-
1
-
-
12844287541
-
Inborn errors of amino acid, organic acid, and fatty acid metabolism
-
Burtis CA, Ashwood ER, Bruns DE, editors, 4th ed. Philadelphia: WB Saunders
-
Rinaldo P, Hahn SH, Matern D. Inborn errors of amino acid, organic acid, and fatty acid metabolism. In: Burtis CA, Ashwood ER, Bruns DE, editors. Tietz textbook of clinical chemistry and molecular diagnostics, 4th ed. Philadelphia: WB Saunders, 2005:2207-2247.
-
(2005)
Tietz textbook of clinical chemistry and molecular diagnostics
, pp. 2207-2247
-
-
Rinaldo, P.1
Hahn, S.H.2
Matern, D.3
-
3
-
-
33744802933
-
Naming and counting disorders (conditions) included in newborn screening panels
-
Sweetman L, Millington DS, Therrell BL, Hannon WH, et al. Naming and counting disorders (conditions) included in newborn screening panels. Pediatrics 2006;17(5 Pt 2):S308-S314.
-
(2006)
Pediatrics
, vol.17
, Issue.5 PART 2
-
-
Sweetman, L.1
Millington, D.S.2
Therrell, B.L.3
Hannon, W.H.4
-
4
-
-
0035241692
-
Mass spectrometry in the clinical laboratory
-
Chace DH. Mass spectrometry in the clinical laboratory. Chem Rev 2001;101:445-477.
-
(2001)
Chem Rev
, vol.101
, pp. 445-477
-
-
Chace, D.H.1
-
5
-
-
0345930501
-
Tandem mass spectrometry in clinical diagnosis
-
Blau N, Duran M, Blaskovics ME, Gibson KM, editors, 2nd ed. Berlin: Springer
-
Millington DS. Tandem mass spectrometry in clinical diagnosis. In: Blau N, Duran M, Blaskovics ME, Gibson KM, editors. Physician's guide to the laboratory diagnosis of metabolic diseases, 2nd ed. Berlin: Springer, 2003:57-75.
-
(2003)
Physician's guide to the laboratory diagnosis of metabolic diseases
, pp. 57-75
-
-
Millington, D.S.1
-
6
-
-
14844292112
-
A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing
-
Chace DH, Kalas TA. A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin Biochem 2005;38:296-309.
-
(2005)
Clin Biochem
, vol.38
, pp. 296-309
-
-
Chace, D.H.1
Kalas, T.A.2
-
7
-
-
0036197207
-
-
Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annu Rev Physiol 2002;64:16.1-26.
-
Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annu Rev Physiol 2002;64:16.1-26.
-
-
-
-
8
-
-
17844383379
-
Inherited abnormalities in mitochondrial fatty acid oxidation
-
Walker WA, Goulet OJ, Kleinman RE, Sanderson IR, et al, editors, 4th ed. Hamilton, Ontario: BC Decker
-
Cuthbert CD, Tortorelli S, Ensenauer R, Rinaldo P, Matern D. Inherited abnormalities in mitochondrial fatty acid oxidation. In: Walker WA, Goulet OJ, Kleinman RE, Sanderson IR, et al, editors. Walker's pediatric gastrointestinal disease, 4th ed. Hamilton, Ontario: BC Decker, 2004:1287-1304.
-
(2004)
Walker's pediatric gastrointestinal disease
, pp. 1287-1304
-
-
Cuthbert, C.D.1
Tortorelli, S.2
Ensenauer, R.3
Rinaldo, P.4
Matern, D.5
-
9
-
-
21244473058
-
Fatty acid oxidation defects as a cause of neuromyopathic disease in infants and adults
-
Olpin SE. Fatty acid oxidation defects as a cause of neuromyopathic disease in infants and adults. Clin Lab 2005;51:289-306.
-
(2005)
Clin Lab
, vol.51
, pp. 289-306
-
-
Olpin, S.E.1
-
10
-
-
39449099363
-
-
Blau N, Duran M, Blaskovics ME, Gibson KM, editors, 3nd ed. Berlin: Springer
-
Blau N, Duran M, Blaskovics ME, Gibson KM, editors. Physician's guide to the laboratory diagnosis of metabolic diseases, 3nd ed. Berlin: Springer, 2006.
-
(2006)
Physician's guide to the laboratory diagnosis of metabolic diseases
-
-
-
12
-
-
33747591403
-
Newborn screening: Toward a uniform screening panel and system [main report]
-
Watson MS, Lloyd-Puryear MA, Mann MY, Rinaldo P, et al. Newborn screening: Toward a uniform screening panel and system [main report]. Genet Med 2006;8(Suppl):12S-252S.
-
(2006)
Genet Med
, vol.8
, Issue.SUPPL.
-
-
Watson, M.S.1
Lloyd-Puryear, M.A.2
Mann, M.Y.3
Rinaldo, P.4
-
13
-
-
0037730098
-
2-Methyl-3- hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene
-
Ofman R, Ruiter JP, Feenstra M, Duran M, et al. 2-Methyl-3- hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet 2003;72:1300 -1307.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1300-1307
-
-
Ofman, R.1
Ruiter, J.P.2
Feenstra, M.3
Duran, M.4
-
14
-
-
12844261741
-
The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I
-
Tortorelli S, Hahn SH, Cowan TM, Brewster TG et al. The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Mol Genet Metab 2005;84:137-143.
-
(2005)
Mol Genet Metab
, vol.84
, pp. 137-143
-
-
Tortorelli, S.1
Hahn, S.H.2
Cowan, T.M.3
Brewster, T.G.4
-
15
-
-
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, et al. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med 2007;9:108-116.
-
(2007)
Genet Med
, vol.9
, pp. 108-116
-
-
Oglesbee, D.1
He, M.2
Majumder, N.3
Vockley, J.4
-
16
-
-
0033956203
-
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders
-
Shen JJ, Matern D, Millington DS, Hillman S, et al. Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. J Inherit Metab Dis 2000;23:27-44.
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 27-44
-
-
Shen, J.J.1
Matern, D.2
Millington, D.S.3
Hillman, S.4
-
17
-
-
29344463846
-
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts
-
Roe DS, Yang BZ, Vianey-Saban C, Struys E, et al. Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. Mol Genet Metab 2006;87:40-47.
-
(2006)
Mol Genet Metab
, vol.87
, pp. 40-47
-
-
Roe, D.S.1
Yang, B.Z.2
Vianey-Saban, C.3
Struys, E.4
-
18
-
-
17144368393
-
Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse
-
van Vlies N, Tian L, Overmars H, Bootsma AH, et al. Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse. Biochem J 2005;387:185-193.
-
(2005)
Biochem J
, vol.387
, pp. 185-193
-
-
van Vlies, N.1
Tian, L.2
Overmars, H.3
Bootsma, A.H.4
-
19
-
-
0034956576
-
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
-
Chace DH, DiPerna JC, Mitchell BL, Sgroi B, et al. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem 2001;47:1166-1182.
-
(2001)
Clin Chem
, vol.47
, pp. 1166-1182
-
-
Chace, D.H.1
DiPerna, J.C.2
Mitchell, B.L.3
Sgroi, B.4
-
20
-
-
0029090038
-
Diagnosis of inborn errors of metabolism in sudden death cases by acylcarnitine analysis of postmortem bile
-
Rashed MS, Ozand PT, Bennett MJ, Barnard JJ, et al. Diagnosis of inborn errors of metabolism in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem 1995;41:1109-1114.
-
(1995)
Clin Chem
, vol.41
, pp. 1109-1114
-
-
Rashed, M.S.1
Ozand, P.T.2
Bennett, M.J.3
Barnard, J.J.4
-
21
-
-
0035142803
-
Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation
-
Rinaldo P, Studinski A, Matern D. Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation. Prenat Diagn 2001;21:52-54.
-
(2001)
Prenat Diagn
, vol.21
, pp. 52-54
-
-
Rinaldo, P.1
Studinski, A.2
Matern, D.3
-
22
-
-
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, et al. Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening. J Mass Spectrom 2006;41:263-265.
-
(2006)
J Mass Spectrom
, vol.41
, pp. 263-265
-
-
Malvagia, S.1
La Marca, G.2
Casetta, B.3
Gasperini, S.4
-
23
-
-
33645457130
-
Quality Management
-
Burtis CA, Ashwood ER, Bruns DE, editors, 4th ed. Philadelphia: WB Saunders
-
Westgard JO, Klee GG. Quality Management. In: Burtis CA, Ashwood ER, Bruns DE, editors. Tietz textbook of clinical chemistry and molecular diagnostics, 4th ed. Philadelphia: WB Saunders, 2005:485-429.
-
(2005)
Tietz textbook of clinical chemistry and molecular diagnostics
, pp. 485-429
-
-
Westgard, J.O.1
Klee, G.G.2
-
24
-
-
39449121669
-
-
CAP/ACMG Biochemical and Molecular Genetics Resource Committee, Available at
-
CAP/ACMG Biochemical and Molecular Genetics Resource Committee. Committees and leadership. Available at: http://www.cap.org/
-
Committees and leadership
-
-
-
25
-
-
39449134577
-
-
European Research Network for evaluation and improvement of screening, Available at
-
European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism (ERNDIM). Available at: http://www.erndimqa.nl/
-
Diagnosis and treatment of Inherited disorders of Metabolism (ERNDIM)
-
-
-
26
-
-
0031752221
-
Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme
-
Abdenur JE, Chamoles NA, Guinle AE, Schenone AB et al. Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme. J Inherit Metab Dis 1998;21:624-630.
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 624-630
-
-
Abdenur, J.E.1
Chamoles, N.A.2
Guinle, A.E.3
Schenone, A.B.4
-
27
-
-
39449106375
-
Interference of Cefotaxime in plasma acylcarnitine profile mimicking an increase of 3-hydroxypalmitoleylcarnitine (C16:1-OH) using butyl esters
-
Vianey-Saban C, Boyer S, Levrat V, Cheillan D, et al. Interference of Cefotaxime in plasma acylcarnitine profile mimicking an increase of 3-hydroxypalmitoleylcarnitine (C16:1-OH) using butyl esters. J Inherit Metab Dis 2004;27(Suppl 1):94.
-
(2004)
J Inherit Metab Dis
, vol.27
, Issue.SUPPL. 1
, pp. 94
-
-
Vianey-Saban, C.1
Boyer, S.2
Levrat, V.3
Cheillan, D.4
-
28
-
-
77956481841
-
Dextrose - an artifact detectable by newborn screening as a butylated acylcarnitine
-
Magera MJ, Hahn S, Tortorelli S, Rinaldo P, Matern D. Dextrose - an artifact detectable by newborn screening as a butylated acylcarnitine. J Inherit Metab Dis 2005;28(Suppl 1):1.
-
(2005)
J Inherit Metab Dis
, vol.28
, Issue.SUPPL. 1
, pp. 1
-
-
Magera, M.J.1
Hahn, S.2
Tortorelli, S.3
Rinaldo, P.4
Matern, D.5
-
29
-
-
1842586064
-
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation
-
Iacobazzi V, Pasquali M, Singh R, Matern D, et al. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. Am J Med Genet 2004;126A:150-155.
-
(2004)
Am J Med Genet
, vol.126 A
, pp. 150-155
-
-
Iacobazzi, V.1
Pasquali, M.2
Singh, R.3
Matern, D.4
-
30
-
-
0842327448
-
Revised sections F7.5 (quantitative amino acid analysis) and F7.6 (qualitative amino acid analysis): American College of Medical Genetics Standards and Guidelines for Clin Genet Laboratories, 2003
-
Grier RE, Gahl WA, Cowan T, Bernardini I, et al. Revised sections F7.5 (quantitative amino acid analysis) and F7.6 (qualitative amino acid analysis): American College of Medical Genetics Standards and Guidelines for Clin Genet Laboratories, 2003. Genet Med 2004;6:66-68.
-
(2004)
Genet Med
, vol.6
, pp. 66-68
-
-
Grier, R.E.1
Gahl, W.A.2
Cowan, T.3
Bernardini, I.4
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