-
1
-
-
33744784588
-
Newborn screening: Toward a uniform screening panel and system - Executive summary
-
Watson, M.S.; Mann, M.Y.; Lloyd-Puryear, M.A.; Rinaldo, P.; Howell, R. Newborn Screening: Toward a Uniform Screening Panel and System - Executive Summary. Pediatrics, 2006, 117(S3), S296-S307.
-
(2006)
Pediatrics
, vol.117
, Issue.S3
-
-
Watson, M.S.1
Mann, M.Y.2
Lloyd-Puryear, M.A.3
Rinaldo, P.4
Howell, R.5
-
2
-
-
61549130602
-
Economic evaluation of tandem mass spectrometry newborn screening in Australia
-
Norman, R.; Haas, M.; Chaplin, M.; Joy, P.; Wilcken, B. Economic Evaluation of Tandem Mass Spectrometry Newborn Screening in Australia. Pediatrics, 2009, 123(2), 451-457.
-
(2009)
Pediatrics
, vol.123
, Issue.2
, pp. 451-457
-
-
Norman, R.1
Haas, M.2
Chaplin, M.3
Joy, P.4
Wilcken, B.5
-
3
-
-
84863882527
-
Newborn screening programmes in europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result
-
Loeber, J.G.; Burgard, P.; Cornel, M.C.; Rigter, T.; Weinreich, S.S.; Rupp, K.; Hoffmann, G.F.; Vittozzi, L. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result. J. Inherit. Metab. Dis., 2012, 35(4), 603-11.
-
(2012)
J. Inherit. Metab. Dis.
, vol.35
, Issue.4
, pp. 603-611
-
-
Loeber, J.G.1
Burgard, P.2
Cornel, M.C.3
Rigter, T.4
Weinreich, S.S.5
Rupp, K.6
Hoffmann, G.F.7
Vittozzi, L.8
-
4
-
-
49449105700
-
Newborn screening of metabolic disorders: Recent progress and future developments
-
Rinaldo, P.; Lim, J.S.; Tortorelli, S.; Gavrilov, D.; Matern, D. Newborn screening of metabolic disorders: Recent progress and future developments. Nestle Nutr. Workshop Ser. Pediatr. Program, 2008, 62, 81-93.
-
(2008)
Nestle Nutr. Workshop ser. Pediatr. Program
, vol.62
, pp. 81-93
-
-
Rinaldo, P.1
Lim, J.S.2
Tortorelli, S.3
Gavrilov, D.4
Matern, D.5
-
5
-
-
79955691704
-
Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots
-
Ko, D.H.; Jun, S.H.; Park, K.U.; Song, S.H.; Kim, J.Q.; Song, J. Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots. J. Inherit. Metab. Dis., 2011, 34(2), 409-414.
-
(2011)
J. Inherit. Metab. Dis.
, vol.34
, Issue.2
, pp. 409-414
-
-
Ko, D.H.1
Jun, S.H.2
Park, K.U.3
Song, S.H.4
Kim, J.Q.5
Song, J.6
-
6
-
-
84856382616
-
Neonatal screening for lysosomal storage disorders
-
Fletcher, J.; Wilcken, B. Neonatal screening for lysosomal storage disorders. Lancet. 2012, 379(9813), 294-295.
-
(2012)
Lancet
, vol.379
, Issue.9813
, pp. 294-295
-
-
Fletcher, J.1
Wilcken, B.2
-
7
-
-
79952194543
-
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
-
McHugh, D.M.; Cameron, C.A.; Abdenur, J.E.; Abdulrahman, M.; Adair, O.; Al Nuaimi, S.A.; Åhlman, H.; Allen, J.J.; Antonozzi, I.; Archer, S.; Au, S.; Auray-Blais, C.; Baker, M.; Bamforth, F.; Beckmann, K.; Pino, G.B.; Berberich, S.L.; Binard, R.; Boemer, F.; Bonham, J.; Breen, N.N.; Bryant, S.C.; Caggana, M.; Caldwell, S.G.; Camilot, M.; Campbell, C.; Carducci, C.; Bryant, S.C.; Caggana, M.; Caldwell, S.G.; Camilot, M.; Campbell, C.; Carducci, C.; Cariappa, R.; Carlisle, C.; Caruso, U.; Cassanello, M.; Castilla, A.M.; Ramos, D.E.; Chakraborty, P.; Chandrasekar, R.; Ramos, A.C.; Cheillan, D.; Chien, Y.H.; Childs, T.A.; Chrastina, P.; Sica, Y.C.; de Juan, J.A.; Colandre, M.E.; Espinoza, V.C.; Corso, G.; Currier, R.; Cyr, D.; Czuczy, N.; D'Apolito, O.; Davis, T.; de Sain-Van der Velden, M.G.; Delgado Pecellin, C.; Di Gangi, I.M.; Di Stefano, C.M.; Dotsikas, Y.; Downing, M.; Downs, S.M.; Dy, B.; Dymerski, M.; Rueda, I.; Elvers, B.; Eaton, R.; Eckerd, B.M.; El Mougy, F.; Eroh, S.; Espada, M.; Evans, C.; Fawbush, S.; Fijolek, K.F.; Fisher, L.; Franzson, L.; Frazier, D.M.; Garcia, L.R.; Bermejo, M.S.; Gavrilov, D.; Gerace, R.; Giordano, G.; Irazabal, Y.G.; Greed, L.C.; Grier, R.; Grycki, E.; Gu, X.; Gulamali-Majid, F.; Hagar, A.F.; Han, L.; Hannon, W.H.; Haslip, C.; Hassan, F.A.; He, M.; Hietala, A.; Himstedt, L.; Hoffman, G.L.; Hoffman, W.; Hoggatt, P.; Hopkins, P.V.; Hougaard, D.M.; Hughes, K.; Hunt, P.R.; Hwu, W.L.; Hynes, J.; Ibarra-González, I.; Ingham, C.A.; Ivanova, M.; Jacox, W.B.; John, C.; Johnson, J.P.; Jónsson, J.J.; Karg, E.; Kasper, D.; Klopper, B.; Katakouzinos, D.; Khneisser, I.; Knoll, D.; Kobayashi, H.; Koneski, R.; Kozich, V.; Kouapei, R.; Kohlmueller, D.; Kremensky, I.; la Marca, G.; Lavochkin, M.; Lee, S.Y.; Lehotay, D.C.; Lemes, A.; Lepage, J.; Lesko, B.; Lewis, B.; Lim, C.; Linard, S.; Lindner, M.; Lloyd-Puryear, M.A.; Lorey, F.; Loukas, Y.L.; Luedtke, J.; Maffitt, N.; Magee, J.F.; Manning, A.; Manos, S.; Marie, S.; Hadachi, S.M.; Marquardt, G.; Martin, S.J.; Matern, D.; Mayfield Gibson, S.K.; Mayne, P.; McCallister, T.D.; McCann, M.; McClure, J.; McGill, J.J.; McKeever, C.D.; McNeilly, B.; Morrissey, M.A.; Moutsatsou, P.; Mulcahy, E.A.; Nikoloudis, D.; Norgaard-Pedersen, B.; Oglesbee, D.; Oltarzewski, M.; Ombrone, D.; Ojodu, J.; Papakonstantinou, V.; Reoyo, S.P.; Park, H.D.; Pasquali, M.; Pasquini, E.; Patel, P.; Pass, K.A.; Peterson, C.; Pettersen, R.D.; Pitt, J.J.; Poh, S.; Pollak, A.; Porter, C.; Poston, P.A.; Price, R.W.; Queijo, C.; Quesada, J.; Randell, E.; Ranieri, E.; Raymond, K.; Reddic, J.E.; Reuben, A.; Ricciardi, C.; Rinaldo, P.; Rivera, J.D.; Roberts, A.; Rocha, H.; Roche, G.; Greenberg, C.R.; Mellado, J.M.; Juan-Fita, M.J.; Ruiz, C.; Ruoppolo, M.; Rutledge, S.L.; Ryu, E.; Saban, C; Sahai, I.; García-Blanco, M.I.; Santiago-Borrero, P.; Schenone, A.; Schoos, R.; Schweitzer, B.; Scott, P.; Seashore, M.R.; Seeterlin, M.A.; Sesser, D.E.; Sevier, D.W.; Shone, S.M.; Sinclair, G.; Skrinska, V.A.; Stanley, E.L.; Strovel, E.T.; Jones, A.L.; Sunny, S.; Takats, Z.; Tanyalcin, T.; Teofoli, F.; Thompson, J.R.; Tomashitis, K.; Domingos, M.T.; Torres, J.; Torres, R.; Tortorelli, S.; Turi, S.; Turner, K.; Tzanakos, N.; Valiente, A.G.; Vallance, H.; Vela-Amieva M.; Vilarinho, L.; von Döbeln, U.; Vincent, M.F.; Vorster, B.C.; Watson, M.S.; Webster, D.; Weiss, S.; Wilcken, B.; Wiley, V.; Williams, S.K.; Willis, S.A.; Woontner, M.; Wright, K.; Yahyaoui, R.; Yamaguchi, S.; Yssel, M.; Zakowicz, W.M. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet. Med., 2011, 13(3), 230-54.
-
(2011)
Genet. Med.
, vol.13
, Issue.3
, pp. 230-254
-
-
McHugh, D.M.1
Cameron, C.A.2
Abdenur, J.E.3
Abdulrahman, M.4
Adair, O.5
Al Nuaimi, S.A.6
Åhlman, H.7
Allen, J.J.8
Antonozzi, I.9
Archer, S.10
Au, S.11
Auray-Blais, C.12
Baker, M.13
Bamforth, F.14
Beckmann, K.15
Pino, G.B.16
Berberich, S.L.17
Binard, R.18
Boemer, F.19
Bonham, J.20
Breen, N.N.21
Bryant, S.C.22
Caggana, M.23
Caldwell, S.G.24
Camilot, M.25
Campbell, C.26
Carducci, C.27
Bryant, S.C.28
Caggana, M.29
Caldwell, S.G.30
Camilot, M.31
Campbell, C.32
Carducci, C.33
Cariappa, R.34
Carlisle, C.35
Caruso, U.36
Cassanello, M.37
Castilla, A.M.38
Ramos, D.E.39
Chakraborty, P.40
Chandrasekar, R.41
Ramos, A.C.42
Cheillan, D.43
Chien, Y.H.44
Childs, T.A.45
Chrastina, P.46
Sica, Y.C.47
De Juan, J.A.48
Colandre, M.E.49
Espinoza, V.C.50
Corso, G.51
Currier, R.52
Cyr, D.53
Czuczy, N.54
D'Apolito, O.55
Davis, T.56
De Sain-Van Der Velden, M.G.57
Delgado Pecellin, C.58
Di Gangi, I.M.59
Di Stefano, C.M.60
Dotsikas, Y.61
Downing, M.62
Downs, S.M.63
Dy, B.64
Dymerski, M.65
Rueda, I.66
Elvers, B.67
Eaton, R.68
Eckerd, B.M.69
El Mougy, F.70
Eroh, S.71
Espada, M.72
Evans, C.73
Fawbush, S.74
Fijolek, K.F.75
Fisher, L.76
Franzson, L.77
Frazier, D.M.78
Garcia, L.R.79
Bermejo, M.S.80
Gavrilov, D.81
Gerace, R.82
Giordano, G.83
Irazabal, Y.G.84
Greed, L.C.85
Grier, R.86
Grycki, E.87
Gu, X.88
Gulamali-Majid, F.89
Hagar, A.F.90
Han, L.91
Hannon, W.H.92
Haslip, C.93
Hassan, F.A.94
He, M.95
Hietala, A.96
Himstedt, L.97
Hoffman, G.L.98
Hoffman, W.99
Hoggatt, P.100
more..
-
8
-
-
84892002073
-
-
Hoffmann, G.F., Ed.; Springer-Verlag Berlin Heidelberg: Germany
-
Rinaldo, P.; Matern, D. In: Inherited Metabolic Diseases; Hoffmann, G.F., Ed.; Springer-Verlag Berlin Heidelberg: Germany, 2010; pp. 251-261.
-
(2010)
Inherited Metabolic Diseases
, pp. 251-261
-
-
Rinaldo, P.1
Matern, D.2
-
9
-
-
75949111757
-
Acylcarnitine analysis by tandem mass spectrometry
-
Smith, E.H.; Matern, D. Acylcarnitine analysis by tandem mass spectrometry. Curr. Protoc. Hum. Genet., 2010, S64, 17810-178120.
-
(2010)
Curr. Protoc. Hum. Genet.
, vol.S64
, pp. 17810-178120
-
-
Smith, E.H.1
Matern, D.2
-
10
-
-
0242362630
-
Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns
-
Chace, D.H.; Kalas, T.A.; Naylor, E.W. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin. Chem., 2003, 49(11), 1797-1817.
-
(2003)
Clin. Chem.
, vol.49
, Issue.11
, pp. 1797-1817
-
-
Chace, D.H.1
Kalas, T.A.2
Naylor, E.W.3
-
11
-
-
0036405455
-
The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism
-
Chace, D.H.; Kalas, T.A.; Naylor, E.W. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu. Rev. Genomics. Hum. Genet., 2002, 3, 17-45.
-
(2002)
Annu. Rev. Genomics. Hum Genet.
, vol.3
, pp. 17-45
-
-
Chace, D.H.1
Kalas, T.A.2
Naylor, E.W.3
-
12
-
-
14844292112
-
A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing
-
Chace, D.H.; Kalas, T.A. A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin. Biochem., 2005, 38(4), 296-309.
-
(2005)
Clin. Biochem.
, vol.38
, Issue.4
, pp. 296-309
-
-
Chace, D.H.1
Kalas, T.A.2
-
13
-
-
33646089205
-
Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: Clinical and laboratory aspects
-
Garg, U.; Dasouki, M. Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects. Clin. Biochem., 2006, 39(4), 315-332.
-
(2006)
Clin. Biochem.
, vol.39
, Issue.4
, pp. 315-332
-
-
Garg, U.1
Dasouki, M.2
-
14
-
-
78650901413
-
LC-MS/MS progress in newborn screening
-
Lehotay, D.C.; Hall, P.; Eichhorst, J.C.; Etter, M.L.; Greenberg, C.R. LC-MS/MS progress in newborn screening. Clin. Biochem., 2011, 44(1), 21-31.
-
(2011)
Clin. Biochem.
, vol.44
, Issue.1
, pp. 21-31
-
-
Lehotay, D.C.1
Hall, P.2
Eichhorst, J.C.3
Etter, M.L.4
Greenberg, C.R.5
-
15
-
-
0036288945
-
Application of tandem mass spectrometry to biochemical genetics and newborn screening
-
Carpenter, K.H.; Wiley, V. Application of tandem mass spectrometry to biochemical genetics and newborn screening. Clin. Chim. Acta., 2002, 322(1-2), 1-10.
-
(2002)
Clin. Chim. Acta.
, vol.322
, Issue.1-2
, pp. 1-10
-
-
Carpenter, K.H.1
Wiley, V.2
-
16
-
-
33645668108
-
The tandem mass spectrometry newborn screening experience in north carolina: 1997-2005
-
Frazier, D.M.; Millington, D.S.; McCandless, S.E.; Koeberl, D.D.; Weavil, S.D.; Chaing, S.H.; Muenzer, J. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J. Inherit. Metab. Dis., 2006, 29(1), 76-85.
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, Issue.1
, pp. 76-85
-
-
Frazier, D.M.1
Millington, D.S.2
McCandless, S.E.3
Koeberl, D.D.4
Weavil, S.D.5
Chaing, S.H.6
Muenzer, J.7
-
17
-
-
0034775820
-
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England newborn screening program
-
Zytkovicz, T.H.; Fitzgerald, E.F.; Marsden, D.; Larson, C.A.; Shih, V.E.; Johnson, D.M.; Strauss, A.W.; Comeau, A.M.; Eaton, R.B.; Grady, G.F. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin. Chem., 2001, 47(11), 1945-1955.
-
(2001)
Clin. Chem.
, vol.47
, Issue.11
, pp. 1945-1955
-
-
Zytkovicz, T.H.1
Fitzgerald, E.F.2
Marsden, D.3
Larson, C.A.4
Shih, V.E.5
Johnson, D.M.6
Strauss, A.W.7
Comeau, A.M.8
Eaton, R.B.9
Grady, G.F.10
-
18
-
-
84855605163
-
Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in tuscany: Update on methods to reduce false tests
-
la Marca, G.; Malvagia, S.; Casetta, B.; Pasquini, E.; Donati, M.A.; Zammarchi, E. Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests. J. Inherit. Metab. Dis., 2008, 31(Suppl 2), S395-S404.
-
(2008)
J. Inherit. Metab. Dis.
, vol.31
, Issue.SUPPL. 2
-
-
La Marca, G.1
Malvagia, S.2
Casetta, B.3
Pasquini, E.4
Donati, M.A.5
Zammarchi, E.6
-
19
-
-
79955476700
-
The screening of inborn errors of metabolism in sick Chinese infants by tandem mass spectrometry and gas chromatography/mass spectrometry
-
Sun, W.; Wang, Y.; Yang, Y.; Wang, J.; Cao, Y.; Luo, F.; Lu, W.; Peng, Y.; Yao, H.; Qiu, P. The screening of inborn errors of metabolism in sick Chinese infants by tandem mass spectrometry and gas chromatography/mass spectrometry. Clin. Chim. Acta., 2011, 412(13-14), 1270-1274.
-
(2011)
Clin. Chim. Acta.
, vol.412
, Issue.13-14
, pp. 1270-1274
-
-
Sun, W.1
Wang, Y.2
Yang, Y.3
Wang, J.4
Cao, Y.5
Luo, F.6
Lu, W.7
Peng, Y.8
Yao, H.9
Qiu, P.10
-
20
-
-
0036964933
-
Newborn screening: New opportunities and new challenges
-
Lashley, F.R. Newborn screening: New opportunities and new challenges. Newborn Infant. Nurs. Rev., 2002, 2(4), 228-242.
-
(2002)
Newborn Infant. Nurs. Rev.
, vol.2
, Issue.4
, pp. 228-242
-
-
Lashley, F.R.1
-
21
-
-
79953748161
-
Analysis of organic acids and acylglycines for the diagnosis of related inborn errors of metabolism by GC- and HPLC-MS
-
la Marca, G.; Rizzo, C. Analysis of organic acids and acylglycines for the diagnosis of related inborn errors of metabolism by GC- and HPLC-MS. Methods Mol. Biol., 2011, 708, 73-98.
-
(2011)
Methods Mol. Biol.
, vol.708
, pp. 73-98
-
-
La Marca, G.1
Rizzo, C.2
-
22
-
-
54049121848
-
Maple syrup urine disease: Newborn screening fails to discriminate between classic and variant forms
-
Fingerhut, R.; Simon, E.; Maier, E.M.; Hennermann, J.B.; Wendel, U. Maple syrup urine disease: newborn screening fails to discriminate between classic and variant forms. Clin. Chem., 2008, 54(10), 1739-1741.
-
(2008)
Clin. Chem.
, vol.54
, Issue.10
, pp. 1739-1741
-
-
Fingerhut, R.1
Simon, E.2
Maier, E.M.3
Hennermann, J.B.4
Wendel, U.5
-
23
-
-
0034502503
-
Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation
-
Bodner-Leidecker, A.; Wendel, U.; Saudubray, J.M.; Schadewaldt, P. Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation. J. Inherit. Metab. Dis., 2000, 23(8), 805-818.
-
(2000)
J. Inherit. Metab. Dis.
, vol.23
, Issue.8
, pp. 805-818
-
-
Bodner-Leidecker, A.1
Wendel, U.2
Saudubray, J.M.3
Schadewaldt, P.4
-
24
-
-
79959866973
-
Chromatographic diagnosis of maple syrup urine disease by measuring the lalloisoleucine/L-phenylalanine ratio in dried blood spots
-
Jeong, J.S.; Sim, H.J.; Lee, Y.M.; Yoon, H.R.; Kwon, H.J.; Hong, S.P. Chromatographic diagnosis of maple syrup urine disease by measuring the Lalloisoleucine/L-phenylalanine ratio in dried blood spots. J. Chromatogr. B. Analyt. Technol. Biomed. Life Sci., 2011, 879(22), 2171-2174.
-
(2011)
J. Chromatogr. B. Analyt. Technol. Biomed. Life Sci.
, vol.879
, Issue.22
, pp. 2171-2174
-
-
Jeong, J.S.1
Sim, H.J.2
Lee, Y.M.3
Yoon, H.R.4
Kwon, H.J.5
Hong, S.P.6
-
25
-
-
79951693205
-
Argininosuccinate lyase deficiencyargininosuccinic aciduria and beyond
-
Erez, A.; Nagamani, S.C.; Lee, B. Argininosuccinate lyase deficiencyargininosuccinic aciduria and beyond. Am. J. Med. Genet. C. Semin. Med. Genet., 2011, 157(1), 45-53.
-
(2011)
Am. J. Med. Genet. C. Semin. Med. Genet.
, vol.157
, Issue.1
, pp. 45-53
-
-
Erez, A.1
Nagamani, S.C.2
Lee, B.3
-
26
-
-
12244299896
-
Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency
-
Saheki, T.; Kobayashi, K.; Iijima, M.; Nishi, I.; Yasuda, T.; Yamaguchi, N.; Gao, H.Z.; Jalil, M.A.; Begum, L.; Li, M.X. Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency. Metab. Brain Dis., 2002, 17(4), 335-346.
-
(2002)
Metab. Brain Dis.
, vol.17
, Issue.4
, pp. 335-346
-
-
Saheki, T.1
Kobayashi, K.2
Iijima, M.3
Nishi, I.4
Yasuda, T.5
Yamaguchi, N.6
Gao, H.Z.7
Jalil, M.A.8
Begum, L.9
Li, M.X.10
-
27
-
-
79951701209
-
Hypermethioninemias of genetic and non-genetic origin: A review
-
Mudd, S.H. Hypermethioninemias of genetic and non-genetic origin: A review. Am. J. Med. Genet. C. Semin. Med. Genet., 2011, 157(1), 3-32.
-
(2011)
Am. J. Med. Genet. C. Semin. Med. Genet.
, vol.157
, Issue.1
, pp. 3-32
-
-
Mudd, S.H.1
-
28
-
-
18844467936
-
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III
-
Ruetschi, U.; Cerone, R.; Perez-Cerda, C.; Schiaffino, M.C.; Standing, S.; Ugarte, M.; Holme, E. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. Hum. Genet., 2000, 106(6), 654-662.
-
(2000)
Hum. Genet.
, vol.106
, Issue.6
, pp. 654-662
-
-
Ruetschi, U.1
Cerone, R.2
Perez-Cerda, C.3
Schiaffino, M.C.4
Standing, S.5
Ugarte, M.6
Holme, E.7
-
29
-
-
0035721235
-
Outcome of tyrosinaemia type III
-
Ellaway, C.J.; Holme, E.; Standing, S.; Preece, M.A.; Green, A.; Ploechl, E.; Ugarte, M.; Trefz, F.K.; Leonard, J.V. Outcome of tyrosinaemia type III. J. Inherit. Metab. Dis., 2001, 24(8), 824-832.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, Issue.8
, pp. 824-832
-
-
Ellaway, C.J.1
Holme, E.2
Standing, S.3
Preece, M.A.4
Green, A.5
Ploechl, E.6
Ugarte, M.7
Trefz, F.K.8
Leonard, J.V.9
-
30
-
-
13444278657
-
Hyperargininemia due to liver arginase deficiency
-
Crombez, E.A.; Cederbaum, S.D. Hyperargininemia due to liver arginase deficiency. Mol. Genet. Metab., 2005, 84(3), 243-251.
-
(2005)
Mol. Genet. Metab.
, vol.84
, Issue.3
, pp. 243-251
-
-
Crombez, E.A.1
Cederbaum, S.D.2
-
31
-
-
67349085037
-
Disorders of biopterin metabolism
-
Longo, N. Disorders of biopterin metabolism. J. Inherit. Metab. Dis., 2008, 32(3), 333-342.
-
(2008)
J. Inherit. Metab. Dis.
, vol.32
, Issue.3
, pp. 333-342
-
-
Longo, N.1
-
32
-
-
77149127415
-
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country
-
Ibarra-Gonzalez, I.; Fernandez-Lainez, C.; Vela-Amieva, M. Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country. Clin. Biochem., 2010, 43(4-5), 461-466.
-
(2010)
Clin. Biochem.
, vol.43
, Issue.4-5
, pp. 461-466
-
-
Ibarra-Gonzalez, I.1
Fernandez-Lainez, C.2
Vela-Amieva, M.3
-
33
-
-
0001564260
-
-
Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: USA
-
Brusilow, W. S. In: The metabolic and molecular bases of inherited disease; Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: USA, 2001; pp 1909-1963.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1909-1963
-
-
Brusilow, W.S.1
-
34
-
-
33947641461
-
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency
-
Kurokawa, K.; Yorifuji, T.; Kawai, M.; Momoi, T.; Nagasaka, H.; Takayanagi, M.; Kobayashi, K.; Yoshino, M.; Kosho, T.; Adachi, M.; Otsuka, H.; Yamamoto, S.; Murata, T.; Suenaga, A.; Ishii, T.; Terada, K.; Shimura, N.; Kiwaki, K.; Shintaku, H.; Yamakawa, M.; Nakabayashi, H.; Wakutani, Y.; Nakahata, T. Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. J. Hum. Genet., 2007, 52(4), 349-354.
-
(2007)
J. Hum. Genet.
, vol.52
, Issue.4
, pp. 349-354
-
-
Kurokawa, K.1
Yorifuji, T.2
Kawai, M.3
Momoi, T.4
Nagasaka, H.5
Takayanagi, M.6
Kobayashi, K.7
Yoshino, M.8
Kosho, T.9
Adachi, M.10
Otsuka, H.11
Yamamoto, S.12
Murata, T.13
Suenaga, A.14
Ishii, T.15
Terada, K.16
Shimura, N.17
Kiwaki, K.18
Shintaku, H.19
Yamakawa, M.20
Nakabayashi, H.21
Wakutani, Y.22
Nakahata, T.23
more..
-
35
-
-
84868006073
-
-
Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: USA
-
Hamosh, A. In: The metabolic and molecular bases of inherited disease; Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: USA, 2001; pp 2064-2078.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2064-2078
-
-
Hamosh, A.1
-
36
-
-
33748909137
-
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
-
Camacho, J.A.; Mardach, R.; Rioseco-Camacho, N.; Ruiz-Pesini, E.; Derbeneva, O.; Andrade, D.; Zaldivar, F.; Qu, Y.; Cederbaum, S.D. Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatr. Res., 2006, 60(4), 423-429.
-
(2006)
Pediatr. Res.
, vol.60
, Issue.4
, pp. 423-429
-
-
Camacho, J.A.1
Mardach, R.2
Rioseco-Camacho, N.3
Ruiz-Pesini, E.4
Derbeneva, O.5
Andrade, D.6
Zaldivar, F.7
Qu, Y.8
Cederbaum, S.D.9
-
37
-
-
34447570964
-
ESIMS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders
-
Kobayashi, H.; Hasegawa, Y.; Endo, M.; Purevsuren, J.; Yamaguchi, S. ESIMS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders. J. Chromatogr. B. Analyt. Technol. Biomed. Life Sci., 2007, 855(1), 80-87.
-
(2007)
J. Chromatogr. B. Analyt. Technol. Biomed. Life Sci.
, vol.855
, Issue.1
, pp. 80-87
-
-
Kobayashi, H.1
Hasegawa, Y.2
Endo, M.3
Purevsuren, J.4
Yamaguchi, S.5
-
38
-
-
0036304671
-
Branched-chain organic acidurias
-
Ogier de Baulny, H.; Saudubray, J.M. Branched-chain organic acidurias. Semin. Neonatol., 2002, 7(1), 65-74.
-
(2002)
Semin. Neonatol.
, vol.7
, Issue.1
, pp. 65-74
-
-
Ogier De Baulny, H.1
Saudubray, J.M.2
-
39
-
-
56149089771
-
Management of a patient with holocarboxylase synthetase deficiency
-
Van Hove, J.L.; Josefsberg, S.; Freehauf, C.; Thomas, J.A.; Thuy le, P.; Barshop, B.A.; Woontner, M.; Mock, D.M.; Chiang, P.W.; Spector, E.; Meneses-Morales, I.; Cervantes-Roldan, R.; Leon-Del-Rio, A. Management of a patient with holocarboxylase synthetase deficiency. Mol. Genet. Metab., 2008, 95(4), 201-205.
-
(2008)
Mol. Genet. Metab.
, vol.95
, Issue.4
, pp. 201-205
-
-
Van Hove, J.L.1
Josefsberg, S.2
Freehauf, C.3
Thomas, J.A.4
Thuy Le, P.5
Barshop, B.A.6
Woontner, M.7
Mock, D.M.8
Chiang, P.W.9
Spector, E.10
Meneses-Morales, I.11
Cervantes-Roldan, R.12
Leon-Del-Rio, A.13
-
40
-
-
70350169096
-
A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy
-
Yokoi, K.; Ito, T.; Maeda, Y.; Nakajima, Y.; Kurono, Y.; Sugiyama, N.; Togari, H. A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy. Brain Dev., 2009, 31, (10), 775-778.
-
(2009)
Brain Dev.
, vol.31
, Issue.10
, pp. 775-778
-
-
Yokoi, K.1
Ito, T.2
Maeda, Y.3
Nakajima, Y.4
Kurono, Y.5
Sugiyama, N.6
Togari, H.7
-
41
-
-
0345830473
-
2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency: Impaired catabolism of isoleucine presenting as neurodegenerative disease
-
Sass, J.O.; Forstner, R.; Sperl, W. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease. Brain Dev., 2004, 2(1), 12-14.
-
(2004)
Brain Dev.
, vol.2
, Issue.1
, pp. 12-14
-
-
Sass, J.O.1
Forstner, R.2
Sperl, W.3
-
42
-
-
10744220582
-
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening
-
Koeberl, D.D.; Young, S.P.; Gregersen, N.S.; Vockley, J.; Smith, W.E.; Benjamin, D.K., Jr.; An, Y.; Weavil, S.D.; Chaing, S.H.; Bali, D.; McDonald, M.T.; Kishnani, P.S.; Chen, Y.T.; Millington, D.S. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr. Res., 2003, 54(2), 219-223.
-
(2003)
Pediatr. Res.
, vol.54
, Issue.2
, pp. 219-223
-
-
Koeberl, D.D.1
Young, S.P.2
Gregersen, N.S.3
Vockley, J.4
Smith, W.E.5
Benjamin Jr., D.K.6
An, Y.7
Weavil, S.D.8
Chaing, S.H.9
Bali, D.10
McDonald, M.T.11
Kishnani, P.S.12
Chen, Y.T.13
Millington, D.S.14
-
43
-
-
33847081531
-
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-coa dehydrogenase deficiency
-
Oglesbee, D.; He, M.; Majumder, N.; Vockley, J.; Ahmad, A.; Angle, B.; Burton, B.; Charrow, J.; Ensenauer, R.; Ficicioglu, C.H.; Keppen, L.D.; Marsden, D.; Tortorelli, S.; Hahn, S.H.; Matern, D. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet. Med., 2007, 9(2), 108-116.
-
(2007)
Genet. Med.
, vol.9
, Issue.2
, pp. 108-116
-
-
Oglesbee, D.1
He, M.2
Majumder, N.3
Vockley, J.4
Ahmad, A.5
Angle, B.6
Burton, B.7
Charrow, J.8
Ensenauer, R.9
Ficicioglu, C.H.10
Keppen, L.D.11
Marsden, D.12
Tortorelli, S.13
Hahn, S.H.14
Matern, D.15
-
44
-
-
33747605308
-
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening
-
Pedersen, C.B.; Bischoff, C.; Christensen, E.; Simonsen, H.; Lund, A.M.; Young, S.P.; Koeberl, D.D.; Millington, D.S.; Roe, C.R.; Roe, D.S.; Wanders, R.J.; Ruiter, J.P.; Keppen, L.D.; Stein, Q.; Knudsen, I.; Gregersen, N.; Andresen, B.S. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. Pediatr. Res., 2006, 60(3), 315-320.
-
(2006)
Pediatr. Res.
, vol.60
, Issue.3
, pp. 315-320
-
-
Pedersen, C.B.1
Bischoff, C.2
Christensen, E.3
Simonsen, H.4
Lund, A.M.5
Young, S.P.6
Koeberl, D.D.7
Millington, D.S.8
Roe, C.R.9
Roe, D.S.10
Wanders, R.J.11
Ruiter, J.P.12
Keppen, L.D.13
Stein, Q.14
Knudsen, I.15
Gregersen, N.16
Andresen, B.S.17
-
45
-
-
33646513039
-
Ethylmalonic encephalopathy-report of two cases
-
Heberle, L.C.; Al Tawari, A.A.; Ramadan, D.G.; Ibrahim, J.K. Ethylmalonic encephalopathy-report of two cases. Brain Dev., 2006, 28(5), 329-331.
-
(2006)
Brain Dev.
, vol.28
, Issue.5
, pp. 329-331
-
-
Heberle, L.C.1
Al Tawari, A.A.2
Ramadan, D.G.3
Ibrahim, J.K.4
-
46
-
-
33750631826
-
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation
-
Di Rocco, M.; Caruso, U.; Briem, E.; Rossi, A.; Allegri, A.E.; Buzzi, D.; Tiranti, V. A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. Mol. Genet. Metab., 2006, 89(4), 395-397.
-
(2006)
Mol. Genet. Metab.
, vol.89
, Issue.4
, pp. 395-397
-
-
Di Rocco, M.1
Caruso, U.2
Briem, E.3
Rossi, A.4
Allegri, A.E.5
Buzzi, D.6
Tiranti, V.7
-
47
-
-
0031863503
-
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism
-
Nowaczyk, M.J.; Lehotay, D.C.; Platt, B.A.; Fisher, L.; Tan, R.; Phillips, H.; Clarke, J.T. Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. Metabolism, 1998, 47(7), 836-839.
-
(1998)
Metabolism
, vol.47
, Issue.7
, pp. 836-839
-
-
Nowaczyk, M.J.1
Lehotay, D.C.2
Platt, B.A.3
Fisher, L.4
Tan, R.5
Phillips, H.6
Clarke, J.T.7
-
48
-
-
33745111909
-
Neonatal screening for glutaric aciduria type I: Strategies to proceed
-
Lindner, M.; Ho, S.; Fang-Hoffmann, J.; Hoffmann, G.F.; Kolker, S. Neonatal screening for glutaric aciduria type I: strategies to proceed. J. Inherit. Metab. Dis., 2006, 29(2-3), 378-382.
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, Issue.2-3
, pp. 378-382
-
-
Lindner, M.1
Ho, S.2
Fang-Hoffmann, J.3
Hoffmann, G.F.4
Kolker, S.5
-
49
-
-
33646498143
-
Glutaric acidemia type 1
-
Hedlund, G.L.; Longo, N.; Pasquali, M. Glutaric acidemia type 1. Am. J. Med. Genet. C. Semin. Med. Genet., 2006, 142C(2), 86-94.
-
(2006)
Am. J. Med. Genet. C. Semin. Med. Genet.
, vol.142 C
, Issue.2
, pp. 86-94
-
-
Hedlund, G.L.1
Longo, N.2
Pasquali, M.3
-
50
-
-
40749100691
-
Early detection of glutaric aciduria type I by newborn screening in Taiwan
-
Hsieh, C.T.; Hwu, W.L.; Huang, Y.T.; Huang, A.C.; Wang, S.F.; Hu, M.H.; Chien, Y.H. Early detection of glutaric aciduria type I by newborn screening in Taiwan. J. Formos. Med. Assoc., 2008, 107(2), 139-144.
-
(2008)
J. Formos. Med. Assoc.
, vol.107
, Issue.2
, pp. 139-144
-
-
Hsieh, C.T.1
Hwu, W.L.2
Huang, Y.T.3
Huang, A.C.4
Wang, S.F.5
Hu, M.H.6
Chien, Y.H.7
-
51
-
-
77951204836
-
Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids
-
Al-Dirbashi, O.Y.; Fisher, L.; McRoberts, C.; Siriwardena, K.; Geraghty, M.; Chakraborty, P. Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids. Clin. Biochem., 2010, 43, 691-693.
-
(2010)
Clin. Biochem.
, vol.43
, pp. 691-693
-
-
Al-Dirbashi, O.Y.1
Fisher, L.2
McRoberts, C.3
Siriwardena, K.4
Geraghty, M.5
Chakraborty, P.6
-
52
-
-
0042508736
-
Type I glutaric aciduria, part 1: Natural history of 77 patients
-
Strauss, K.A.; Puffenberger, E.G.; Robinson, D.L.; Morton, D.H. Type I glutaric aciduria, part 1: natural history of 77 patients. Am. J. Med. Genet. C. Semin. Med. Genet., 2003, 121C(1), 38-52.
-
(2003)
Am. J. Med. Genet. C. Semin. Med. Genet.
, vol.121 C
, Issue.1
, pp. 38-52
-
-
Strauss, K.A.1
Puffenberger, E.G.2
Robinson, D.L.3
Morton, D.H.4
-
53
-
-
33745106324
-
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-coa dehydrogenase deficiency
-
Kolker, S.; Garbade, S.F.; Greenberg, C.R.; Leonard, J.V.; Saudubray, J.M.; Ribes, A.; Kalkanoglu, H.S.; Lund, A.M.; Merinero, B.; Wajner, M.; Troncoso, M.; Williams, M.; Walter, J.H.; Campistol, J.; Marti-Herrero, M.; Caswill, M.; Burlina, A.B.; Lagler, F.; Maier, E.M.; Schwahn, B.; Tokatli, A.; Dursun, A.; Coskun, T.; Chalmers, R.A.; Koeller, D.M.; Zschocke, J.; Christensen, E.; Burgard, P.; Hoffmann, G.F. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr. Res., 2006, 59(6), 840-847.
-
(2006)
Pediatr. Res.
, vol.59
, Issue.6
, pp. 840-847
-
-
Kolker, S.1
Garbade, S.F.2
Greenberg, C.R.3
Leonard, J.V.4
Saudubray, J.M.5
Ribes, A.6
Kalkanoglu, H.S.7
Lund, A.M.8
Merinero, B.9
Wajner, M.10
Troncoso, M.11
Williams, M.12
Walter, J.H.13
Campistol, J.14
Marti-Herrero, M.15
Caswill, M.16
Burlina, A.B.17
Lagler, F.18
Maier, E.M.19
Schwahn, B.20
Tokatli, A.21
Dursun, A.22
Coskun, T.23
Chalmers, R.A.24
Koeller, D.M.25
Zschocke, J.26
Christensen, E.27
Burgard, P.28
Hoffmann, G.F.29
more..
-
54
-
-
33646533134
-
Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
-
Vockley, J.; Ensenauer, R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am. J. Med. Genet. C. Semin. Med. Genet., 2006, 142C(2), 95-103.
-
(2006)
Am. J. Med. Genet. C. Semin. Med. Genet.
, vol.142 C
, Issue.2
, pp. 95-103
-
-
Vockley, J.1
Ensenauer, R.2
-
55
-
-
23044444836
-
Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia
-
Loots, D.T.; Erasmus, E.; Mienie, L.J. Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia. Clin. Chem., 2005, 51(8), 1510-1512.
-
(2005)
Clin. Chem.
, vol.51
, Issue.8
, pp. 1510-1512
-
-
Loots, D.T.1
Erasmus, E.2
Mienie, L.J.3
-
56
-
-
33847168609
-
2-methylbutyryl-coa dehydrogenase deficiency in hmong infants identified by expanded newborn screen
-
van Calcar, S.C.; Gleason, L.A.; Lindh, H.; Hoffman, G.; Rhead, W.; Vockley, G.; Wolff, J.A.; Durkin, M.S. 2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen. W.M.J., 2007, 106(1), 12-15.
-
(2007)
W.M.J.
, vol.106
, Issue.1
, pp. 12-15
-
-
Van Calcar, S.C.1
Gleason, L.A.2
Lindh, H.3
Hoffman, G.4
Rhead, W.5
Vockley, G.6
Wolff, J.A.7
Durkin, M.S.8
-
57
-
-
14544272325
-
2-ethylhydracrylic aciduria in short/branched-chain acyl-coa dehydrogenase deficiency: Application to diagnosis and implications for the rpathway of isoleucine oxidation
-
Korman, S.H.; Andresen, B.S.; Zeharia, A.; Gutman, A.; Boneh, A.; Pitt, J.J. 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the Rpathway of isoleucine oxidation. Clin. Chem., 2005, 51(3), 610-617.
-
(2005)
Clin. Chem.
, vol.51
, Issue.3
, pp. 610-617
-
-
Korman, S.H.1
Andresen, B.S.2
Zeharia, A.3
Gutman, A.4
Boneh, A.5
Pitt, J.J.6
-
58
-
-
33750606395
-
Inborn errors of isoleucine degradation: A review
-
Korman, S.H. Inborn errors of isoleucine degradation: a review. Mol. Genet. Metab., 2006, 89(4), 289-299.
-
(2006)
Mol. Genet. Metab.
, vol.89
, Issue.4
, pp. 289-299
-
-
Korman, S.H.1
-
59
-
-
0033754125
-
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-coa dehydrogenase deficiency: Identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-coa dehydrogenases in isoleucine and valine metabolism
-
Andresen, B.S.; Christensen, E.; Corydon, T.J.; Bross, P.; Pilgaard, B.; Wanders, R.J.; Ruiter, J.P.; Simonsen, H.; Winter, V.; Knudsen, I.; Schroeder, L.D.; Gregersen, N.; Skovby, F. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am. J. Hum. Genet., 2000, 67(5), 1095-1103.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, Issue.5
, pp. 1095-1103
-
-
Andresen, B.S.1
Christensen, E.2
Corydon, T.J.3
Bross, P.4
Pilgaard, B.5
Wanders, R.J.6
Ruiter, J.P.7
Simonsen, H.8
Winter, V.9
Knudsen, I.10
Schroeder, L.D.11
Gregersen, N.12
Skovby, F.13
-
60
-
-
84897922434
-
The first case of mitochondrial acetoacetyl-coa thiolase deficiency identified by expanded newborn metabolic screening in Italy: The importance of an integrated diagnostic approach
-
DOI: 10.1007/s10545-009-9028-3 URL
-
Catanzano, F.; Ombrone, D.; Di Stefano, C.; Rossi, A.; Nosari, N.; Scolamiero, E.; Tandurella, I.; Frisso, G.; Parenti, G.; Ruoppolo, M.; Andria, G.; Salvatore, F. The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach. J. Inherit. Metab. Dis., 2010, DOI: 10.1007/s10545-009-9028-3: Available from: URL'.http://www.springerlink. com/content/qxv8612p7005q128/.
-
(2010)
J. Inherit. Metab. Dis.
-
-
Catanzano, F.1
Ombrone, D.2
Di Stefano, C.3
Rossi, A.4
Nosari, N.5
Scolamiero, E.6
Tandurella, I.7
Frisso, G.8
Parenti, G.9
Ruoppolo, M.10
Andria, G.11
Salvatore, F.12
-
61
-
-
0031848401
-
Mitochondrial acetoacetyl-coa thiolase (betaketothiolase) deficiency and pregnancy
-
Sewell, A.C.; Herwig, J.; Wiegratz, I.; Lehnert, W.; Niederhoff, H.; Song, X.Q.; Kondo, N.; Fukao, T. Mitochondrial acetoacetyl-CoA thiolase (betaketothiolase) deficiency and pregnancy. J. Inherit. Metab. Dis., 1998, 21(4), 441-442.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, Issue.4
, pp. 441-442
-
-
Sewell, A.C.1
Herwig, J.2
Wiegratz, I.3
Lehnert, W.4
Niederhoff, H.5
Song, X.Q.6
Kondo, N.7
Fukao, T.8
-
62
-
-
34247122413
-
Neuroimage findings in 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency
-
Cazorla, M.R.; Verdu, A.; Perez-Cerda, C.; Ribes, A. Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency. Pediatr. Neurol., 2007, 36(4), 264-267.
-
(2007)
Pediatr. Neurol.
, vol.36
, Issue.4
, pp. 264-267
-
-
Cazorla, M.R.1
Verdu, A.2
Perez-Cerda, C.3
Ribes, A.4
-
63
-
-
0033667891
-
Progressive infantile neurodegeneration caused by 2-methyl-3- hydroxybutyryl-coa dehydrogenase deficiency: A novel inborn error of branched-chain fatty acid and isoleucine metabolism
-
Zschocke, J.; Ruiter, J.P.; Brand, J.; Lindner, M.; Hoffmann, G.F.; Wanders, R.J.; Mayatepek, E. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr. Res., 2000, 48(6), 852-855.
-
(2000)
Pediatr. Res.
, vol.48
, Issue.6
, pp. 852-855
-
-
Zschocke, J.1
Ruiter, J.P.2
Brand, J.3
Lindner, M.4
Hoffmann, G.F.5
Wanders, R.J.6
Mayatepek, E.7
-
64
-
-
84881071542
-
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult
-
DOI: 10.1007/s10545-009-1048-5 URL
-
Reimão, S.; Morgado, C.; Almeida, I.T.; Silva, M.; Real, H.C.; Campos, J. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult. J. Inherit. Metab. Dis., 2009, DOI: 10.1007/s10545-009-1048-5: Available from: URL'. http://www.springerlink.com/ content/c778439v144l1w33/.
-
(2009)
J. Inherit. Metab. Dis.
-
-
Reimão, S.1
Morgado, C.2
Almeida, I.T.3
Silva, M.4
Real, H.C.5
Campos, J.6
-
65
-
-
77956061703
-
A case of dilated cardiomyopathy associated with 3-hydroxy-3- methylglutaryl-coenzyme A (HMG CoA) lyase deficiency
-
2009 DOI: 10.1155/2009/183125 URL
-
Leung, A.A.; Chan, A.K.; Ezekowitz, J.A.; Leung, A.K. A Case of dilated cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-Coenzyme A (HMG CoA) lyase deficiency. Case report Med, 2009, 2009, 183125, DOI: 10.1155/2009/183125: Available from: URL'. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773375/? tool=pubmed.
-
(2009)
Case Report Med
, pp. 183125
-
-
Leung, A.A.1
Chan, A.K.2
Ezekowitz, J.A.3
Leung, A.K.4
-
66
-
-
84984956480
-
Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, south America
-
DOI: 10.1007/s10545-007-0756-y URL
-
Vargas, C.R.; Sitta, A.; Schmitt, G.; Ferreira, G.C.; Cardoso, M.L.; Coelho, D.; Gibson, K.M.; Wajner, M. Incidence of 3-hydroxy-3-methylglutaryl- coenzyme A lyase (HL) deficiency in Brazil, South America. J. Inherit. Metab. Dis., 2007, DOI: 10.1007/s10545-007-0756-y: Available from: URL'. http://www.springerlink.com/content/e5763250245487hv/fulltext.pdf.
-
(2007)
J. Inherit. Metab. Dis.
-
-
Vargas, C.R.1
Sitta, A.2
Schmitt, G.3
Ferreira, G.C.4
Cardoso, M.L.5
Coelho, D.6
Gibson, K.M.7
Wajner, M.8
-
67
-
-
0343729942
-
3-methylglutaconyl-coa hydratase deficiency: A new patient with speech retardation as the leading sign
-
Ensenauer, R.; Muller, C.B.; Schwab, K.O.; Gibson, K.M.; Brandis, M.; Lehnert, W. 3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign. J. Inherit. Metab. Dis., 2000, 23(4), 341-344.
-
(2000)
J. Inherit. Metab. Dis.
, vol.23
, Issue.4
, pp. 341-344
-
-
Ensenauer, R.1
Muller, C.B.2
Schwab, K.O.3
Gibson, K.M.4
Brandis, M.5
Lehnert, W.6
-
68
-
-
0036229938
-
Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: A comprehensive table
-
Kumps, A.; Duez, P.; Mardens Y. Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table. Clin. Chem., 2002, 48(5), 708-717.
-
(2002)
Clin. Chem.
, vol.48
, Issue.5
, pp. 708-717
-
-
Kumps, A.1
Duez, P.2
Mardens, Y.3
-
69
-
-
0003237157
-
-
Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: USA
-
Sweetman, L. In: The metabolic and molecular bases of inherited disease; Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: USA, 2001; pp 2125-2193.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2125-2193
-
-
Sweetman, L.1
-
70
-
-
0037381036
-
Tandem mass spectrometric determination of malonylcarnitine: Diagnosis and neonatal screening of malonyl-coa decarboxylase deficiency
-
Santer, R.; Fingerhut, R.; Lassker, U.; Wightman, P.J.; Fitzpatrick, D.R.; Olgemoller, B.; Roscher, A.A. Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency. Clin. Chem., 2003, 49(4), 660-662.
-
(2003)
Clin. Chem.
, vol.49
, Issue.4
, pp. 660-662
-
-
Santer, R.1
Fingerhut, R.2
Lassker, U.3
Wightman, P.J.4
Fitzpatrick, D.R.5
Olgemoller, B.6
Roscher, A.A.7
-
71
-
-
77955653743
-
Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis
-
Marin-Valencia, I.; Roe, C.R.; Pascual, J.M. Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Mol. Genet. Metab., 2010, 101(1), 9-17
-
(2010)
Mol. Genet. Metab.
, vol.101
, Issue.1
, pp. 9-17
-
-
Marin-Valencia, I.1
Roe, C.R.2
Pascual, J.M.3
-
72
-
-
39049136977
-
Disorders of fatty acid oxidation in the era of tandem mass spectrometry in newborn screening
-
Banta-Wright, S.A.; Shelton, K.C. Bennett, M.J. Disorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening. Newborn. Infant. Nurs. Rev., 2008, 8(1), 18-29.
-
(2008)
Newborn. Infant. Nurs. Rev.
, vol.8
, Issue.1
, pp. 18-29
-
-
Banta-Wright, S.A.1
Shelton, K.C.2
Bennett, M.J.3
-
73
-
-
33947610527
-
Expanded newborn screening identifies maternal primary carnitine deficiency
-
Schimmenti, L.A.; Crombez, E.A.; Schwahn, B.C.; Heese, B.A.; Wood, T.C.; Schroer, R.J.; Bentler, K.; Cederbaum, S.; Sarafoglou, K.; McCann, M.; Rinaldo, P.; Matern, D.; di San Filippo, C.A.; Pasquali, M.; Berry, S.A.; Longo, N. Expanded newborn screening identifies maternal primary carnitine deficiency. Mol. Genet. Metab., 2007, 90(4), 441-445.
-
(2007)
Mol. Genet. Metab.
, vol.90
, Issue.4
, pp. 441-445
-
-
Schimmenti, L.A.1
Crombez, E.A.2
Schwahn, B.C.3
Heese, B.A.4
Wood, T.C.5
Schroer, R.J.6
Bentler, K.7
Cederbaum, S.8
Sarafoglou, K.9
McCann, M.10
Rinaldo, P.11
Matern, D.12
Di San Filippo, C.A.13
Pasquali, M.14
Berry, S.A.15
Longo, N.16
-
74
-
-
3342882804
-
Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy
-
Kinali, M.; Olpin, S.E.; Clayton, P.T.; Daubeney, P.E.; Mercuri, E.; Manzur, A.Y.; Tein, I.; Leonard, J.; Muntoni, F. Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy. Eur. J. Paediatr. Neurol., 2004, 8(4), 217-219.
-
(2004)
Eur. J. Paediatr. Neurol.
, vol.8
, Issue.4
, pp. 217-219
-
-
Kinali, M.1
Olpin, S.E.2
Clayton, P.T.3
Daubeney, P.E.4
Mercuri, E.5
Manzur, A.Y.6
Tein, I.7
Leonard, J.8
Muntoni, F.9
-
75
-
-
77950518841
-
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening
-
Lee, N.C.; Tang, N.L.; Chien, Y.H.; Chen, C.A.; Lin, S.J.; Chiu, P.C.; Huang, A.C.; Hwu, W.L. Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. Mol. Genet. Metab., 2010, 100(1), 46-50.
-
(2010)
Mol. Genet. Metab.
, vol.100
, Issue.1
, pp. 46-50
-
-
Lee, N.C.1
Tang, N.L.2
Chien, Y.H.3
Chen, C.A.4
Lin, S.J.5
Chiu, P.C.6
Huang, A.C.7
Hwu, W.L.8
-
76
-
-
84857689250
-
Genotype-phenotype correlation in primary carnitine deficiency
-
Rose, E.C.; di San Filippo, C.A.; Ndukwe Erlingsson, U.C.; Ardon, O.; Pasquali, M.; Longo, N. Genotype-phenotype correlation in primary carnitine deficiency. Hum. Mutat., 2012, 33(1), 118-123.
-
(2012)
Hum. Mutat.
, vol.33
, Issue.1
, pp. 118-123
-
-
Rose, E.C.1
Di San Filippo, C.A.2
Ndukwe Erlingsson, U.C.3
Ardon, O.4
Pasquali, M.5
Longo, N.6
-
77
-
-
70350780534
-
An overview of beta-oxidation disorders
-
Moczulski, D.; Majak, I.; Mamczur, D. An overview of beta-oxidation disorders. Postepy. Hig. Med. Dosw. (Online)., 2009, 63, 266-277.
-
(2009)
Postepy. Hig. Med. Dosw. (Online)
, vol.63
, pp. 266-277
-
-
Moczulski, D.1
Majak, I.2
Mamczur, D.3
-
78
-
-
0025277176
-
2,4-dienoyl-coenzyme A reductase deficiency: A possible new disorder of fatty acid oxidation
-
Roe, C.R.; Millington, D.S.; Norwood, D.L.; Kodo, N.; Sprecher, H.; Mohammed, B.S.; Nada, M.; Schulz, H.; McVie, R. 2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation. J. Clin. Invest., 1990, 85(5), 1703-1707.
-
(1990)
J. Clin. Invest.
, vol.85
, Issue.5
, pp. 1703-1707
-
-
Roe, C.R.1
Millington, D.S.2
Norwood, D.L.3
Kodo, N.4
Sprecher, H.5
Mohammed, B.S.6
Nada, M.7
Schulz, H.8
McVie, R.9
-
79
-
-
0038121926
-
Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: Difficulties in practical discrimination
-
Shigematsu, Y.; Hirano, S.; Hata, I.; Tanaka, Y.; Sudo, M.; Tajima, T.; Sakura, N.; Yamaguchi, S.; Takayanagi, M. Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination. J. Chromatogr. B. Analyt. Technol. Biomed. Life. Sci., 2003, 792(1), 63-72.
-
(2003)
J. Chromatogr. B. Analyt. Technol. Biomed. Life. Sci.
, vol.792
, Issue.1
, pp. 63-72
-
-
Shigematsu, Y.1
Hirano, S.2
Hata, I.3
Tanaka, Y.4
Sudo, M.5
Tajima, T.6
Sakura, N.7
Yamaguchi, S.8
Takayanagi, M.9
-
80
-
-
77957602067
-
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
-
Wanders, R.J.; Ruiter, J.P.; L, I.J.; Waterham, H.R.; Houten, S.M. The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. J. Inherit. Metab. Dis., 2010, 33(5), 479-494.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
, Issue.5
, pp. 479-494
-
-
Wanders, R.J.1
Ruiter, J.P.2
L, I.J.3
Waterham, H.R.4
Houten, S.M.5
-
81
-
-
77951024685
-
Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan
-
Tsuburaya, R.; Sakamoto, O.; Arai, N.; Kobayashi, H.; Hasegawa, Y.; Yamaguchi, S.; Shigematsu, Y.; Takayanagi, M.; Ohura, T.; Tsuchiya, S. Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan. Brain Dev., 2010, 32(5), 409-411.
-
(2010)
Brain Dev.
, vol.32
, Issue.5
, pp. 409-411
-
-
Tsuburaya, R.1
Sakamoto, O.2
Arai, N.3
Kobayashi, H.4
Hasegawa, Y.5
Yamaguchi, S.6
Shigematsu, Y.7
Takayanagi, M.8
Ohura, T.9
Tsuchiya, S.10
-
82
-
-
4444307033
-
Carnitine palmitoyltransferases 1 and 2: Biochemical, molecular and medical aspects
-
Bonnefont, J.P.; Djouadi, F.; Prip-Buus, C.; Gobin, S.; Munnich, A.; Bastin, J. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol. Aspects. Med, 2004, 25(5-6), 495-520.
-
(2004)
Mol. Aspects. Med
, vol.25
, Issue.5-6
, pp. 495-520
-
-
Bonnefont, J.P.1
Djouadi, F.2
Prip-Buus, C.3
Gobin, S.4
Munnich, A.5
Bastin, J.6
-
83
-
-
0042377348
-
Carnitine-acylcarnitine translocase deficiency: Case report and review of the literature
-
Rubio-Gozalbo, M.E.; Vos, P.; Forget, P.P.; Van Der Meer, S.B.; Wanders, R.J.; Waterham, H.R.; Bakker, J.A. Carnitine-acylcarnitine translocase deficiency: case report and review of the literature. Acta Paediatr., 2003, 92(4), 501-504.
-
(2003)
Acta Paediatr.
, vol.92
, Issue.4
, pp. 501-504
-
-
Rubio-Gozalbo, M.E.1
Vos, P.2
Forget, P.P.3
Van Der Meer, S.B.4
Wanders, R.J.5
Waterham, H.R.6
Bakker, J.A.7
-
84
-
-
4444323965
-
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects
-
Rubio-Gozalbo, M.E.; Bakker, J.A.; Waterham, H.R.; Wanders, R.J. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Mol. Aspects Med., 2004, 25(5-6), 521-532.
-
(2004)
Mol. Aspects Med.
, vol.25
, Issue.5-6
, pp. 521-532
-
-
Rubio-Gozalbo, M.E.1
Bakker, J.A.2
Waterham, H.R.3
Wanders, R.J.4
-
85
-
-
77953289907
-
Fatty acid oxidation disorders: Maternal health and neonatal outcomes
-
Rector, R.S.; Ibdah, J.A. Fatty acid oxidation disorders: maternal health and neonatal outcomes. Semin. Fetal Neonatal Med., 2010, 15(3), 122-128.
-
(2010)
Semin. Fetal Neonatal Med.
, vol.15
, Issue.3
, pp. 122-128
-
-
Rector, R.S.1
Ibdah, J.A.2
-
86
-
-
77649107219
-
-
Region 4 Genetics Collaborative Accessed Nov 11, 2011
-
Region 4 Genetics Collaborative. MS/MS data project. http://www. region4genetics.org/msms-data-project/data-project-home.aspx (Accessed Nov 11, 2011).
-
MS/MS Data Project
-
-
-
87
-
-
0033801802
-
Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency
-
Van Hove, J.L.; Kahler, S.G.; Feezor, M.D.; Ramakrishna, J.P.; Hart, P.; Treem, W.R.; Shen, J.J.; Matern, D.; Millington, D.S. Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency. J. Inherit. Metab. Dis., 2000, 23(6), 571-582.
-
(2000)
J. Inherit. Metab. Dis.
, vol.23
, Issue.6
, pp. 571-582
-
-
Van Hove, J.L.1
Kahler, S.G.2
Feezor, M.D.3
Ramakrishna, J.P.4
Hart, P.5
Treem, W.R.6
Shen, J.J.7
Matern, D.8
Millington, D.S.9
-
88
-
-
79955898166
-
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-coa dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening
-
Sykut-Cegielska, J.; Gradowska, W.; Piekutowska-Abramczuk, D.; Andresen, B.S.; Olsen, R.K.; Oltarzewski, M.; Pronicki, M.; Pajdowska, M.; Bogdanska, A.; Jablonska, E.; Radomyska, B.; Kusmierska, K.; KrajewskaWalasek, M.; Gregersen, N.; Pronicka, E. Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. J. Inherit. Metab. Dis., 2011, 34(1), 185-195.
-
(2011)
J. Inherit. Metab. Dis.
, vol.34
, Issue.1
, pp. 185-195
-
-
Sykut-Cegielska, J.1
Gradowska, W.2
Piekutowska-Abramczuk, D.3
Andresen, B.S.4
Olsen, R.K.5
Oltarzewski, M.6
Pronicki, M.7
Pajdowska, M.8
Bogdanska, A.9
Jablonska, E.10
Radomyska, B.11
Kusmierska, K.12
KrajewskaWalasek, M.13
Gregersen, N.14
Pronicka, E.15
-
89
-
-
55349127028
-
Increased C3-carnitine in a healthy premature infant
-
Chapman, K.A.; Bennett, M.J.; Sondheimer, N. Increased C3-carnitine in a healthy premature infant. Clin. Chem., 2008, 54(11), 1914-1918.
-
(2008)
Clin. Chem.
, vol.54
, Issue.11
, pp. 1914-1918
-
-
Chapman, K.A.1
Bennett, M.J.2
Sondheimer, N.3
-
90
-
-
33744515180
-
Two newborns with nutritional vitamin B12 deficiency: Challenges in newborn screening for vitamin B12 deficiency
-
Campbell, C.D.; Ganesh, J.; Ficicioglu, C. Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. Haematologica., 2005, 90(12 Suppl), ECR45.
-
(2005)
Haematologica.
, vol.90
, Issue.12 SUPPL.
-
-
Campbell, C.D.1
Ganesh, J.2
Ficicioglu, C.3
-
91
-
-
41849104490
-
Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: Identi- fication by expanded newborn screening
-
Marble, M.; Copeland, S.; Khanfar, N.; Rosenblatt, D.S. Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identi- fication by expanded newborn screening. J. Pediatr., 2008, 152(5), 731-733.
-
(2008)
J. Pediatr.
, vol.152
, Issue.5
, pp. 731-733
-
-
Marble, M.1
Copeland, S.2
Khanfar, N.3
Rosenblatt, D.S.4
-
92
-
-
77953288432
-
Maternal and neonatal vitamin B12 deficiency detected through expanded newborn screening United States, 2003-2007
-
Hinton, C.F.; Ojodu, J.A,; Fernhoff, P.M.; Rasmussen, S.A.; Scanlon, K.S.; Hannon, W.H. Maternal and neonatal vitamin B12 deficiency detected through expanded newborn screening-United States, 2003-2007. J. Pediatr., 2010, 157(1), 162-163.
-
(2010)
J. Pediatr.
, vol.157
, Issue.1
, pp. 162-163
-
-
Hinton, C.F.1
Ojodu, J.A.2
Fernhoff, P.M.3
Rasmussen, S.A.4
Scanlon, K.S.5
Hannon, W.H.6
-
93
-
-
78651265106
-
Plasma concentration of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans
-
Stratton, S.L.; Horvath, T.D.; Bogusiewicz, A.; Matthews, N.I.; Henrich, C.L.; Spencer, H.J.; Moran, J.H.; Mock, D.M. Plasma concentration of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans. Am. J. Clin. Nutr., 2010, 92(6), 1399-1405.
-
(2010)
Am. J. Clin. Nutr.
, vol.92
, Issue.6
, pp. 1399-1405
-
-
Stratton, S.L.1
Horvath, T.D.2
Bogusiewicz, A.3
Matthews, N.I.4
Henrich, C.L.5
Spencer, H.J.6
Moran, J.H.7
Mock, D.M.8
-
95
-
-
44449105719
-
Spectrum of medium-chain acyl-coa dehydrogenase deficiency detected by newborn screening
-
Hsu, H.W.; Zytkovicz, T.H.; Comeau, A.M.; Strauss, A.W.; Marsden, D.; Shih, V.E.; Grady, G.F.; Eaton, R.B. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. Pediatrics., 2008, 121(5), e1108-1114.
-
(2008)
Pediatrics.
, vol.121
, Issue.5
-
-
Hsu, H.W.1
Zytkovicz, T.H.2
Comeau, A.M.3
Strauss, A.W.4
Marsden, D.5
Shih, V.E.6
Grady, G.F.7
Eaton, R.B.8
-
96
-
-
0345930501
-
-
Blau, N.; Duran M.; Blaskovics E.M.; Michael-gibson, K., Eds.; Springer: Berlin
-
Millington, D.S. In Physician's guide to the laboratory diagnosis of metabolic diseases. Blau, N.; Duran, M.; Blaskovics, E.M.; Michael-Gibson, K., Eds.; Springer: Berlin, 2003, pp. 57-76.
-
(2003)
Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases
, pp. 57-76
-
-
Millington, D.S.1
-
97
-
-
82255191686
-
Impact of premature birth and critical illness on neonatal range of plasma amino acid concentrations determined by LC-MS/MS
-
Oladipo, O.O.; Weindel, A.L.; Saunders, A.N.; Dietzen, D.J. Impact of premature birth and critical illness on neonatal range of plasma amino acid concentrations determined by LC-MS/MS. Mol. Genet. Metab., 2011, 104(4), 476-479.
-
(2011)
Mol. Genet. Metab.
, vol.104
, Issue.4
, pp. 476-479
-
-
Oladipo, O.O.1
Weindel, A.L.2
Saunders, A.N.3
Dietzen, D.J.4
-
98
-
-
12444344852
-
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: A diagnostic trap
-
Mudd, H.S.; Braverman, N.; Pomper, M.; Tezcan, K.; Kronick, J.; Jayakar, P.; Garganta, C.; Ampola, M.G.; Levy, H.L.; McCandless, S.E.; Wiltse, H.; Stabler, S.P.; Allen, R.H.; Wagner, C.; Borschel, M.W. Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. Mol. Genet. Metab., 2003, 79(1), 6-16.
-
(2003)
Mol. Genet. Metab.
, vol.79
, Issue.1
, pp. 6-16
-
-
Mudd, H.S.1
Braverman, N.2
Pomper, M.3
Tezcan, K.4
Kronick, J.5
Jayakar, P.6
Garganta, C.7
Ampola, M.G.8
Levy, H.L.9
McCandless, S.E.10
Wiltse, H.11
Stabler, S.P.12
Allen, R.H.13
Wagner, C.14
Borschel, M.W.15
-
99
-
-
77956461984
-
Tandem mass spectrometric identification of dextrose markers in dried-blood spots from infants receiving total parenteral nutrition
-
Chace, D.H.; De Jesús, V.R.; Lim, T.H.; Hannon, W.H.; Spitzer, A.R. Tandem mass spectrometric identification of dextrose markers in dried-blood spots from infants receiving total parenteral nutrition. Clin. Chim. Acta., 2010, 411(21-22), 1806-1816.
-
(2010)
Clin. Chim. Acta.
, vol.411
, Issue.21-22
, pp. 1806-1816
-
-
Chace, D.H.1
De Jesús, V.R.2
Lim, T.H.3
Hannon, W.H.4
Spitzer, A.R.5
-
100
-
-
35748952413
-
-
Blau, N.; Duran, M.; Blaskovics, E.M.; Michael-Gibson, K., Eds.; Springer: Berlin
-
Shih, E.V. In: Physician's guide to the laboratory diagnosis of metabolic diseases. Blau, N.; Duran, M.; Blaskovics, E.M.; Michael-Gibson, K., Eds.; Springer: Berlin, 2003; pp. 11-26.
-
(2003)
Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases
, pp. 11-26
-
-
Shih, E.V.1
-
101
-
-
79952191770
-
-
Blau, N.; Duran, M.; Gibson, K.M., Eds.; Springer: Berlin
-
Duran, M. In: Laboratory guide to the methods in biochemical genetics; Blau, N.; Duran, M.; Gibson, K.M., Eds.; Springer: Berlin, 2008; pp. 53-89.
-
(2008)
Laboratory Guide to the Methods in Biochemical Genetics
, pp. 53-89
-
-
Duran, M.1
-
102
-
-
69549118945
-
National academy of clinical biochesmistry laboratory medicine practice guidelines: Follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary
-
Dietzen, D.J.; Rinaldo, P.; Whitley, R.J.; Rhead, W.J.; Hannon, W.H.; Garg, U.C. National academy of clinical biochesmistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary. Clin. Chem., 2009, 55(9), 1615-1626.
-
(2009)
Clin. Chem.
, vol.55
, Issue.9
, pp. 1615-1626
-
-
Dietzen, D.J.1
Rinaldo, P.2
Whitley, R.J.3
Rhead, W.J.4
Hannon, W.H.5
Garg, U.C.6
-
103
-
-
80755163561
-
Evaluation of valproate effects on acylcarnitine in epileptic children by LC-MS/MS
-
Nakajima, Y.; Ito, T.; Maeda, Y.; Ichiki, S.; Kobayashi, S.; Ando, N.; Hussein, M.H.; Kurono, Y.; Sugiyama, N.; Togari, H. Evaluation of valproate effects on acylcarnitine in epileptic children by LC-MS/MS. Brain. Dev., 2011, 33(10), 816-823.
-
(2011)
Brain. Dev.
, vol.33
, Issue.10
, pp. 816-823
-
-
Nakajima, Y.1
Ito, T.2
Maeda, Y.3
Ichiki, S.4
Kobayashi, S.5
Ando, N.6
Hussein, M.H.7
Kurono, Y.8
Sugiyama, N.9
Togari, H.10
-
104
-
-
33846235102
-
Effects of valproate on acylcarnitines in children with epilepsy using ESI-MS/MS
-
Werner, T.; Treiss, I.; Kohlmueller, D.; Mehlem, P.; Teich, M.; Longin, E.; Gerstner, T.; Koenig, S.A.; Schulze, A. Effects of valproate on acylcarnitines in children with epilepsy using ESI-MS/MS. Epilepsia., 2007, 48(1), 72-76.
-
(2007)
Epilepsia.
, vol.48
, Issue.1
, pp. 72-76
-
-
Werner, T.1
Treiss, I.2
Kohlmueller, D.3
Mehlem, P.4
Teich, M.5
Longin, E.6
Gerstner, T.7
Koenig, S.A.8
Schulze, A.9
-
105
-
-
0031752221
-
Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme
-
Abdenur, J.E.; Chamoles, N.A.; Guinle, A.E.; Schenone, A.B.; Fuertes, A.N. Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme. J. Inherit. Metab. Dis., 1998, 21(6), 624-630.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, Issue.6
, pp. 624-630
-
-
Abdenur, J.E.1
Chamoles, N.A.2
Guinle, A.E.3
Schenone, A.B.4
Fuertes, A.N.5
-
106
-
-
34548476003
-
Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The mayo clinic experience (2004-2007)
-
Matern, D.; Tortorelli, S.; Oglesbee, D.; Gavrilov, D.; Rinaldo, P., Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007). J. Inherit. Metab. Dis., 2007, 30(4), 585-592.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, Issue.4
, pp. 585-592
-
-
Matern, D.1
Tortorelli, S.2
Oglesbee, D.3
Gavrilov, D.4
Rinaldo, P.5
-
107
-
-
73949114277
-
-
Blau, N.; Duran, M.; Gibson, K.M., Eds.; Springer: Germany
-
Matern, D. In: Laboratory guide to the methods in biochemical genetics; Blau, N.; Duran, M.; Gibson, K.M., Eds.; Springer: Germany, 2008; pp. 171-206.
-
(2008)
Laboratory Guide to the Methods in Biochemical Genetics
, pp. 171-206
-
-
Matern, D.1
-
108
-
-
77955653443
-
Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency
-
Eichhorst, J.; Alcorn, J.; Lepage, J.; Etter, M.; Antonishyn, N.A.; Fitterer, B.; Birch, D.A.; Agopsowicz, K.L.; Ruthnum, L.; Greenberg, C.R.; Lehotay, D.C. Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency. Mol. Genet. Metab., 2010, 101(1), 84-86.
-
(2010)
Mol. Genet. Metab.
, vol.101
, Issue.1
, pp. 84-86
-
-
Eichhorst, J.1
Alcorn, J.2
Lepage, J.3
Etter, M.4
Antonishyn, N.A.5
Fitterer, B.6
Birch, D.A.7
Agopsowicz, K.L.8
Ruthnum, L.9
Greenberg, C.R.10
Lehotay, D.C.11
-
109
-
-
40849118431
-
A delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency
-
Arnold, G.L.; Koeberl, D.D.; Matern, D.; Barshop, B.; Braverman, N.; Burton, B.; Cederbaum, S.; Fiegenbaum, A.; Garganta, C.; Gibson, J.; Goodman, S.I.; Harding, C.; Kahler, S.; Kronn, D.; Longo, N. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol. Genet. Metab., 2008, 93(4), 363-370.
-
(2008)
Mol. Genet. Metab.
, vol.93
, Issue.4
, pp. 363-370
-
-
Arnold, G.L.1
Koeberl, D.D.2
Matern, D.3
Barshop, B.4
Braverman, N.5
Burton, B.6
Cederbaum, S.7
Fiegenbaum, A.8
Garganta, C.9
Gibson, J.10
Goodman, S.I.11
Harding, C.12
Kahler, S.13
Kronn, D.14
Longo, N.15
-
110
-
-
0000134296
-
-
Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: New York
-
Scriver, R.C. In: The metabolic and molecular bases of inherited disease; Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: New York, 2001; pp. 1667-1724.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1667-1724
-
-
Scriver, R.C.1
-
111
-
-
41949109641
-
Maternal glutaric acidemia, type I identified by newborn screening
-
Crombez, E.A., Cederbaum, S.D.; Spector, E.; Chan, E.; Salazar, D.; Neidich, J.; Goodman, S. Maternal glutaric acidemia, type I identified by newborn screening. Mol. Genet. Metab., 2008, 94(1), 132-134.
-
(2008)
Mol. Genet. Metab.
, vol.94
, Issue.1
, pp. 132-134
-
-
Crombez, E.A.1
Cederbaum, S.D.2
Spector, E.3
Chan, E.4
Salazar, D.5
Neidich, J.6
Goodman, S.7
-
112
-
-
75649118189
-
Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects
-
El-Hattab, A.W.; Li, F.Y.; Shen, J.; Powell, B.R.; Bawle, E.V.; Adams, D.J.; Wahl, E.; Kobori, J.A.; Graham, B.; Scaglia, F.; Wong, L.J. Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet. Med., 2010, 12(1), 19-24.
-
(2010)
Genet. Med.
, vol.12
, Issue.1
, pp. 19-24
-
-
El-Hattab, A.W.1
Li, F.Y.2
Shen, J.3
Powell, B.R.4
Bawle, E.V.5
Adams, D.J.6
Wahl, E.7
Kobori, J.A.8
Graham, B.9
Scaglia, F.10
Wong, L.J.11
-
113
-
-
7944238046
-
Molecular biomarkers in drug development
-
Lewin, D.A.; Weiner, M.P. Molecular biomarkers in drug development. D.D.T., 2004, 9(22), 976-983.
-
(2004)
D.D.T.
, vol.9
, Issue.22
, pp. 976-983
-
-
Lewin, D.A.1
Weiner, M.P.2
-
114
-
-
79953765653
-
-
Metz, T.O., Ed.; Springer Science+Business Media: New York
-
Millington, D.S.; Stevens, R.D. In: Metabolic profiling, methods in molecular biology; Metz, T.O., Ed.; Springer Science+Business Media: New York, 2011; pp. 55-72.
-
(2011)
Metabolic Profiling, Methods in Molecular Biology
, pp. 55-72
-
-
Millington, D.S.1
Stevens, R.D.2
-
115
-
-
0000362736
-
-
Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: New York
-
Mitchell, G.A.; Grompe, M.; Lambert, M.; Tanguay, R.M. In: The metabolic and molecular basis of inherited metabolic disease; Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: New York, 2001; pp. 1777-1797.
-
(2001)
The Metabolic and Molecular Basis of Inherited Metabolic Disease
, pp. 1777-1797
-
-
Mitchell, G.A.1
Grompe, M.2
Lambert, M.3
Tanguay, R.M.4
-
116
-
-
6344262303
-
Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: Analysis of succinylacetone extracted from dried blood spots
-
Allard, P.; Genier, A.; Korson, M.S.; Zytkovicz, T.H. Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clin. Biochem., 2004, 37(11), 1010-15.
-
(2004)
Clin Biochem.
, vol.37
, Issue.11
, pp. 1010-1015
-
-
Allard, P.1
Genier, A.2
Korson, M.S.3
Zytkovicz, T.H.4
-
117
-
-
79955881552
-
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry
-
Al-Dirbashi, O.Y.; Kolker, S.; Ng, D.; Fisher, L.; Rupar, T.; Lepage, N.; Rashed, M.S.; Santa, T.; Goodman, S.I.; Geraghty, M.T.; Zschocke, J.; Christensen, E.; Hoffmann, G.F.; Chakraborty, P. Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry. J. Inherit. Metab. Dis., 2011, 34(1), 173-180.
-
(2011)
J. Inherit. Metab. Dis.
, vol.34
, Issue.1
, pp. 173-180
-
-
Al-Dirbashi, O.Y.1
Kolker, S.2
Ng, D.3
Fisher, L.4
Rupar, T.5
Lepage, N.6
Rashed, M.S.7
Santa, T.8
Goodman, S.I.9
Geraghty, M.T.10
Zschocke, J.11
Christensen, E.12
Hoffmann, G.F.13
Chakraborty, P.14
-
118
-
-
33745297628
-
Expanded newborn screening for biochemical disorders: The effect of a false-positive result
-
Gurian, E.A.; Kinnamon, D.D.; Henry, J.J.; Waisbren S.E. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics., 2006, 117(6), 1915-1921.
-
(2006)
Pediatrics
, vol.117
, Issue.6
, pp. 1915-1921
-
-
Gurian, E.A.1
Kinnamon, D.D.2
Henry, J.J.3
Waisbren, S.E.4
-
119
-
-
32944481866
-
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening
-
Malvagia, S.; La Marca, G.; Casetta, B.; Gasperini, S.; Pasquini, E.; Donati, M.A.; Zammarchi, E. Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening. J. Mass. Spec., 2006, 41(2), 263-65.
-
(2006)
J. Mass. Spec.
, vol.41
, Issue.2
, pp. 263-265
-
-
Malvagia, S.1
La Marca, G.2
Casetta, B.3
Gasperini, S.4
Pasquini, E.5
Donati, M.A.6
Zammarchi, E.7
-
120
-
-
33845972665
-
Making the case for objective performance metrics in newborn screening by tandem mass spectrometry
-
Rinaldo, P.; Zafari, S.; Tortorelli, S.; Matern, D. Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Ment. Retard. Dev. Disabil. Res. Rev., 2006, 12(4), 255-261.
-
(2006)
Ment. Retard. Dev. Disabil. Res. Rev.
, vol.12
, Issue.4
, pp. 255-261
-
-
Rinaldo, P.1
Zafari, S.2
Tortorelli, S.3
Matern, D.4
-
121
-
-
77649113667
-
Improving and assuring newborn screening laboratory quality worldwide: 30-year experience at the centers for disease control and prevention
-
De Jesús, V.R.; Mei, J.V.; Bell, C.J.; Hannon, W.H. Improving and assuring newborn screening laboratory quality worldwide: 30-year experience at the Centers for Disease Control and Prevention. Semin. Perinatol., 2010, 34(2), 125-133.
-
(2010)
Semin. Perinatol.
, vol.34
, Issue.2
, pp. 125-133
-
-
De Jesús, V.R.1
Mei, J.V.2
Bell, C.J.3
Hannon, W.H.4
-
122
-
-
79952189283
-
Quality improvement of newborn screening in real time
-
Howell, R.R. Quality improvement of newborn screening in real time. Genet. Med., 2011, 13(3), 205.
-
(2011)
Genet. Med.
, vol.13
, Issue.3
, pp. 205
-
-
Howell, R.R.1
-
123
-
-
0031454302
-
Age-specific distribution of plasma amino acid concentrations in a healthy pediatric population
-
Lepage, N.; McDonald, N.; Dallaire, L.; Lambert, M. Age-specific distribution of plasma amino acid concentrations in a healthy pediatric population. Clin. Chem., 1997, 43(12), 2397-2402.
-
(1997)
Clin. Chem.
, vol.43
, Issue.12
, pp. 2397-2402
-
-
Lepage, N.1
McDonald, N.2
Dallaire, L.3
Lambert, M.4
-
124
-
-
16244409538
-
Age-related variations in acylcarnitine and free carnitine concentrations measured by tandem mass spectrometry
-
Cavedon, C.T.; Bourdoux, P.; Mertens, K.; Van-Thi, H.V.; Herremans, N.; de Laet, C.; Goyens, P. Age-related variations in acylcarnitine and free carnitine concentrations measured by tandem mass spectrometry. Clin. Chem., 2005, 51(4), 745-752.
-
(2005)
Clin. Chem.
, vol.51
, Issue.4
, pp. 745-752
-
-
Cavedon, C.T.1
Bourdoux, P.2
Mertens, K.3
Van-Thi, H.V.4
Herremans, N.5
De Laet, C.6
Goyens, P.7
-
125
-
-
79952669937
-
Postnatal varia- tions in blood free and acylcarnitines
-
De, T.; Kruthika-Vinod, T.P.; Nagaraja, D.; Christopher, R. Postnatal varia- tions in blood free and acylcarnitines. J. Clin. Lab. Anal., 2011, 25(2), 126-129.
-
(2011)
J. Clin. Lab. Anal.
, vol.25
, Issue.2
, pp. 126-129
-
-
De, T.1
Kruthika-Vinod, T.P.2
Nagaraja, D.3
Christopher, R.4
-
126
-
-
84868016265
-
Clinical and laboratory standards institute (CLSI), newborn screening for preterm, low birth weight, and sick newborns; approved guideline
-
Miller, J.; Tuerck, J.; Awad, K.; Chace, D.H.; Copeland, S.; Rasmussen, S.A.; Rien, L.; Valentine, C.J.; Webster, D.R.; Wilcken, B. Clinical and Laboratory Standards Institute (CLSI), Newborn screening for preterm, low birth weight, and sick newborns; approved guideline. CLSI document I/LA31-A. Clinical and Laboratory Standards Institute: Wayne, PA, 2009.
-
(2009)
CLSI Document I/LA31-A. Clinical and Laboratory Standards Institute: Wayne, PA
-
-
Miller, J.1
Tuerck, J.2
Awad, K.3
Chace, D.H.4
Copeland, S.5
Rasmussen, S.A.6
Rien, L.7
Valentine, C.J.8
Webster, D.R.9
Wilcken, B.10
-
127
-
-
4344671931
-
Pseudo-glutarylcarnitinaemia in medium-chain-acyl-coa dehydrogenase deficiency detected by tandem mass spectrometry newborn screening
-
Napolitano, N.; Wiley, V.; Pitt, J.J. Pseudo-glutarylcarnitinaemia in medium-chain-acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening. J. Inherit. Metab. Dis., 2004, 27(4), 465-471.
-
(2004)
J. Inherit. Metab. Dis.
, vol.27
, Issue.4
, pp. 465-471
-
-
Napolitano, N.1
Wiley, V.2
Pitt, J.J.3
-
129
-
-
77957325732
-
How to use acylcarnitine profiles to help diagnose inborn errors of metabolism
-
Santra, S.; Hendriksz, C. How to use acylcarnitine profiles to help diagnose inborn errors of metabolism. Arch. Dis. Educ. Pract. Ed., 2010, 95(5), 151-156.
-
(2010)
Arch. Dis. Educ. Pract. Ed.
, vol.95
, Issue.5
, pp. 151-156
-
-
Santra, S.1
Hendriksz, C.2
-
130
-
-
73949144057
-
Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening
-
Lin, H.J.; Neidich, J.A.; Salazar, D.; Thomas-Johnson, E.; Ferreira, B.F.; Kwong, A.M.; Lin, A.M.; Jonas, A.J.; Levine, S.; Lorey, F.; Rosenblatt,
-
(2009)
J. Pediatr.
, vol.155
, Issue.6
, pp. 924-927
-
-
Lin, H.J.1
Neidich, J.A.2
Salazar, D.3
Thomas-Johnson, E.4
Ferreira, B.F.5
Kwong, A.M.6
Lin, A.M.7
Jonas, A.J.8
Levine, S.9
Lorey, F.10
Rosenblatt, D.S.11
-
131
-
-
84878612543
-
-
Accessed Nov 11, 2011
-
American College of Medical Genetics and Genomics. http://www.acmg.net/ AM/Template.cfm?Section=NBS-ACT-Sheets-and-A lgorithms-Table&Template=/CM/ HTMLDisplay.cfm&ContentID=5072 (Accessed Nov 11, 2011).
-
American College of Medical Genetics and Genomics
-
-
-
132
-
-
3242662769
-
Optimal management of phenylketonuria: A centralized expert team is more successful than a decentralized model of care
-
Camfield, C.S.; Joseph, M.; Hurley, T.; Campbell, K.; Sanderson, S.; Cam-field, P.R. Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care. J. Pediatr., 2004, 145, 53-57.
-
(2004)
J. Pediatr.
, vol.145
, pp. 53-57
-
-
Camfield, C.S.1
Joseph, M.2
Hurley, T.3
Campbell, K.4
Sanderson, S.5
Cam-Field, P.R.6
-
134
-
-
82255192456
-
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme
-
Couce, M.L.; Castiñeiras, D.E.; Bóveda, M.D.; Baña, A.; Cocho, J.A.; Iglesias, A.J.; Colón, C.; Alonso-Fernández, J.R.; Fraga, J.M. Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme. Mol. Genet. Metab., 2011, 104(4), 470-475.
-
(2011)
Mol. Genet. Metab.
, vol.104
, Issue.4
, pp. 470-475
-
-
Couce, M.L.1
Castiñeiras, D.E.2
Bóveda, M.D.3
Baña, A.4
Cocho, J.A.5
Iglesias, A.J.6
Colón, C.7
Alonso-Fernández, J.R.8
Fraga, J.M.9
|