-
1
-
-
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;39:315-332.
-
(2006)
Clin Biochem
, vol.39
, pp. 315-332
-
-
Garg, U.1
Dasouki, M.2
-
2
-
-
17844408661
-
Maple syrup urine disease-treatment and outcome in patients of turkish descent in Germany
-
Simon E, Wendel U, Schadewaldt P. Maple syrup urine disease-treatment and outcome in patients of turkish descent in Germany. Turk J Pediatr 2005;47:8-13.
-
(2005)
Turk J Pediatr
, vol.47
, pp. 8-13
-
-
Simon, E.1
Wendel, U.2
Schadewaldt, P.3
-
3
-
-
0036889928
-
Phenylketonuria: An update
-
Cederbaum S. Phenylketonuria: an update. Curr Opin Pediatr 2002;14:702-706.
-
(2002)
Curr Opin Pediatr
, vol.14
, pp. 702-706
-
-
Cederbaum, S.1
-
4
-
-
33846162470
-
-
Online Mendelian Inheritance in Man [database, Available at:, Accessed sept 18, 2006
-
National Center for Biotechnology Information. OMIM: Online Mendelian Inheritance in Man [database]. Available at: www.ncbi.nlm.nih.gov/entrez/query. fcgi?db_OMIM. Accessed sept 18, 2006.
-
National Center for Biotechnology Information. OMIM
-
-
-
5
-
-
50449108939
-
-
Chuang DT, Shih VE. Maple Syrup Urine Disease (Branched-Chain Ketoaciduria). En: The Metabolic and Molecular Basis of Inherited Disease. Scriver CR, Beaudet AL, Valle D (Eds.) McGraw-Hill Inc., 8a Edición, New York, EUA, 2001, pp 1991-1995.
-
Chuang DT, Shih VE. Maple Syrup Urine Disease (Branched-Chain Ketoaciduria). En: The Metabolic and Molecular Basis of Inherited Disease. Scriver CR, Beaudet AL, Valle D (Eds.) McGraw-Hill Inc., 8a Edición, New York, EUA, 2001, pp 1991-1995.
-
-
-
-
6
-
-
0012199060
-
Branched-Chain Organic Acidurias. En: Inborn Metabolic Diseases Diagnosis and Treatment
-
Eds, Springer, 3a Edición, New York, EUA
-
Ogier de Baulny H, Saudubray JM. Branched-Chain Organic Acidurias. En: Inborn Metabolic Diseases Diagnosis and Treatment. Fernandes J, Saudubray JM, Van den Berghe G (Eds.) Springer, 3a Edición, New York, EUA, 2000, pp 197.
-
(2000)
Fernandes J, Saudubray JM, Van den Berghe G
, pp. 197
-
-
Ogier de Baulny, H.1
Saudubray, J.M.2
-
7
-
-
0036264313
-
Diagnosis and treatment of Maple Syrup Urine Disease: A study of 36 Patients
-
Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI. Diagnosis and treatment of Maple Syrup Urine Disease: A study of 36 Patients. Pediatrics 2002;109:999-1007.
-
(2002)
Pediatrics
, vol.109
, pp. 999-1007
-
-
Morton, D.H.1
Strauss, K.A.2
Robinson, D.L.3
Puffenberger, E.G.4
Kelley, R.I.5
-
8
-
-
33749046765
-
Committee on Genetics; Accurso F, La Franchi S, Lane PA, Hope N, Sonya P, G Bradley S, Michele A LP. Newborn screening fact sheets
-
Kaye CI, Committee on Genetics; Accurso F, La Franchi S, Lane PA, Hope N, Sonya P, G Bradley S, Michele A LP. Newborn screening fact sheets. Pediatrics 2006;118:934-963.
-
(2006)
Pediatrics
, vol.118
, pp. 934-963
-
-
Kaye, C.I.1
-
9
-
-
0038306717
-
Diagnosis of maple syrup urine disease by determination of L-valine, L-isoleucine, L-leucine and L-phenylalanine in neonatal blood spots by gas chromatography-mass spectrometry
-
Deng C, Deng Y. Diagnosis of maple syrup urine disease by determination of L-valine, L-isoleucine, L-leucine and L-phenylalanine in neonatal blood spots by gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 2003; 792:261-268.
-
(2003)
J Chromatogr B Analyt Technol Biomed Life Sci
, vol.792
, pp. 261-268
-
-
Deng, C.1
Deng, Y.2
-
10
-
-
4644297666
-
A simple and rapid enzymatic assay for the branched-chain alpha-ketoacid dehydrogenase complex using high performance liquid cromatography
-
Tajima G, Yofune H, Bahagia Febriani AD, Nishimura Y, Ono H, Sakura N. A simple and rapid enzymatic assay for the branched-chain alpha-ketoacid dehydrogenase complex using high performance liquid cromatography. J Inherit Metab Dis 2004;27:633-639.
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 633-639
-
-
Tajima, G.1
Yofune, H.2
Bahagia Febriani, A.D.3
Nishimura, Y.4
Ono, H.5
Sakura, N.6
-
11
-
-
33746749546
-
Mutational spectrum of maple syrup urine diasease in Spain
-
Rogríguez-Pombo P, Navarrete R, Merinero B, Gomez-Puertas P, Ugarte M. Mutational spectrum of maple syrup urine diasease in Spain. Hum Mutat 2006;27:715.
-
(2006)
Hum Mutat
, vol.27
, pp. 715
-
-
Rogríguez-Pombo, P.1
Navarrete, R.2
Merinero, B.3
Gomez-Puertas, P.4
Ugarte, M.5
-
12
-
-
31544455515
-
Lessons from genetic disorders of branched-chain amino acid metabolism
-
Chuang DT, Chuang JL, Wynn RM. Lessons from genetic disorders of branched-chain amino acid metabolism. J Nutr 2006;136(1 Suppl):243S-249S.
-
(2006)
J Nutr
, vol.136
, Issue.1 SUPPL.
-
-
Chuang, D.T.1
Chuang, J.L.2
Wynn, R.M.3
-
13
-
-
33644892168
-
Elective liver transplantation for the treatment of classical maple syrup urine disease
-
Strauss KA, Mazariegos GV, Sindhi R, Squires R, Finegold DN, Vockley G, et al. Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Transplant 2006;6:557-564.
-
(2006)
Am J Transplant
, vol.6
, pp. 557-564
-
-
Strauss, K.A.1
Mazariegos, G.V.2
Sindhi, R.3
Squires, R.4
Finegold, D.N.5
Vockley, G.6
-
14
-
-
33646438536
-
Domino liver transplantation in maple syrup urine disease
-
Khanna A, Hart M, Nyhan WL, Hassanein T, Panyard-Davis J, Barshop BA. Domino liver transplantation in maple syrup urine disease. Liver Transpl 2006;12:876-882.
-
(2006)
Liver Transpl
, vol.12
, pp. 876-882
-
-
Khanna, A.1
Hart, M.2
Nyhan, W.L.3
Hassanein, T.4
Panyard-Davis, J.5
Barshop, B.A.6
-
15
-
-
50449088437
-
-
Snyderman SE. In response to le Roux et al. J Inherit Metab Dis 2006;29:690.
-
Snyderman SE. In response to le Roux et al. J Inherit Metab Dis 2006;29:690.
-
-
-
-
16
-
-
33645696890
-
The longest-surviving patient with classical maple syrup urine disease
-
le Roux C, Murphy E, Lilburn M, Lee PJ. The longest-surviving patient with classical maple syrup urine disease. J Inherit Metab Dis. 2006;29:190-194.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 190-194
-
-
le Roux, C.1
Murphy, E.2
Lilburn, M.3
Lee, P.J.4
-
17
-
-
50449089061
-
-
Norma Oficial Mexicana-007-SSA2-1993. Atención a la mujer durante el embarazo, parto y puerperio y del RN, criterios y procedimientos para la prestación del servicio. Diario Oficial de la Federación Tomo CDXCVI No.5 México, D.F. viernes 6 de enero de 1995.
-
Norma Oficial Mexicana-007-SSA2-1993. Atención a la mujer durante el embarazo, parto y puerperio y del RN, criterios y procedimientos para la prestación del servicio. Diario Oficial de la Federación Tomo CDXCVI No.5 México, D.F. viernes 6 de enero de 1995.
-
-
-
-
18
-
-
0342264567
-
Diagnosis of inborn errors of metabolism
-
Velázquez A, Vela M, Ciceron I, Ibarra I, Pérez M, Olivares Z, et al. Diagnosis of inborn errors of metabolism. Arch Med Res 2000;31:145-150.
-
(2000)
Arch Med Res
, vol.31
, pp. 145-150
-
-
Velázquez, A.1
Vela, M.2
Ciceron, I.3
Ibarra, I.4
Pérez, M.5
Olivares, Z.6
-
19
-
-
17144393693
-
An early diagnosis leads to a good prognosis: A patient with maple syrup urine disease -screened by tandem mass spectrometry
-
Lin JF, Chiu PC, Hsu HY, Lin SM, Chen YY, Hsieh KS. An early diagnosis leads to a good prognosis: a patient with maple syrup urine disease -screened by tandem mass spectrometry. Acta paediatr Taiwán 2004;45:287-289.
-
(2004)
Acta paediatr Taiwán
, vol.45
, pp. 287-289
-
-
Lin, J.F.1
Chiu, P.C.2
Hsu, H.Y.3
Lin, S.M.4
Chen, Y.Y.5
Hsieh, K.S.6
-
20
-
-
15244341398
-
Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification
-
Heldt K, Schwahn B, Marquardt I, Grotzke M, Wendel U. Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification. Mol Genet Metab 2005;84:313-316.
-
(2005)
Mol Genet Metab
, vol.84
, pp. 313-316
-
-
Heldt, K.1
Schwahn, B.2
Marquardt, I.3
Grotzke, M.4
Wendel, U.5
-
21
-
-
33744814955
-
American Academy of Pediatrics Newborn Screening Task Force recommendations: How far have we come?
-
Lloyd-Puryear MA, Tonniges T, van Dyck PC, Mann MY, Brin A, Johnson K, et al. American Academy of Pediatrics Newborn Screening Task Force recommendations: how far have we come? Pediatrics 2006;117:S194-S211.
-
(2006)
Pediatrics
, vol.117
-
-
Lloyd-Puryear, M.A.1
Tonniges, T.2
van Dyck, P.C.3
Mann, M.Y.4
Brin, A.5
Johnson, K.6
-
22
-
-
0028534941
-
Maple syrup urine disease: Clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity
-
Korein J, Sansaricq C, Kalmijn M, Honig J, Lange B. Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity. Int J Neurosci 1994;79:21-45.
-
(1994)
Int J Neurosci
, vol.79
, pp. 21-45
-
-
Korein, J.1
Sansaricq, C.2
Kalmijn, M.3
Honig, J.4
Lange, B.5
-
23
-
-
0025910020
-
Cerebral edema causing death in children with maple syrup urine disease
-
Riviello JJ Jr, Rezvani I, DiGeorge AM, Foley CM. Cerebral edema causing death in children with maple syrup urine disease. J Pediatr 1991;119:42-45.
-
(1991)
J Pediatr
, vol.119
, pp. 42-45
-
-
Riviello Jr, J.J.1
Rezvani, I.2
DiGeorge, A.M.3
Foley, C.M.4
|