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Results: 1 to 20 of 91

2.

[Inborn errors of metabolism in adult neurology].

Sedel F.

Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S63-9. doi: 10.1016/S0035-3787(13)70062-6. Review. French.

PMID:
23452774
[PubMed - indexed for MEDLINE]
3.

Inborn errors of metabolism in infancy: a guide to diagnosis.

Burton BK.

Pediatrics. 1998 Dec;102(6):E69. Review.

PMID:
9832597
[PubMed - indexed for MEDLINE]
4.

[Inborn errors of metabolism in adults].

Saudubray JM, Sedel F.

Ann Endocrinol (Paris). 2009 Mar;70(1):14-24. doi: 10.1016/j.ando.2008.12.004. French.

PMID:
19178907
[PubMed - indexed for MEDLINE]
5.

An introduction to nutritional treatment in inborn errors of metabolism--different disorders, different approaches.

Wilcken B.

Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:198-201.

PMID:
15906735
[PubMed - indexed for MEDLINE]
6.

Clinical approach to treatable inborn metabolic diseases: an introduction.

Saudubray JM, Sedel F, Walter JH.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):261-74. Review.

PMID:
16763886
[PubMed - indexed for MEDLINE]
7.

Inborn errors of metabolism and expanded newborn screening: review and update.

Mak CM, Lee HC, Chan AY, Lam CW.

Crit Rev Clin Lab Sci. 2013 Nov;50(6):142-62. doi: 10.3109/10408363.2013.847896.

PMID:
24295058
[PubMed - in process]
8.

Clinical biochemical genetics in the twenty-first century.

Rinaldo P, Hahn S, Matern D.

Acta Paediatr Suppl. 2004 May;93(445):22-6; discussion 27.

PMID:
15176715
[PubMed - indexed for MEDLINE]
9.

Genetics and metabolic cardiomyopathies.

Wicks EC, Elliott PM.

Herz. 2012 Sep;37(6):598-610. Review.

PMID:
22936369
[PubMed - indexed for MEDLINE]
10.

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A.

Pediatrics. 2001 Jul;108(1):E19.

PMID:
11433098
[PubMed - indexed for MEDLINE]
11.

Newborn screening of lysosomal storage disorders.

Marsden D, Levy H.

Clin Chem. 2010 Jul;56(7):1071-9. doi: 10.1373/clinchem.2009.141622. Epub 2010 May 20. Review.

PMID:
20489136
[PubMed - indexed for MEDLINE]
Free Article
12.

[Inborn errors of metabolism (IEM) in adults. A new challenge to internal medicine].

Schwarz M, Wendel U.

Med Klin (Munich). 2005 Sep 15;100(9):547-52. Review. German.

PMID:
16170643
[PubMed - indexed for MEDLINE]
13.

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

Applegarth DA, Toone JR, Lowry RB.

Pediatrics. 2000 Jan;105(1):e10.

PMID:
10617747
[PubMed - indexed for MEDLINE]
14.

The eye in metabolic diseases: clues to diagnosis.

Poll-The BT, Maillette de Buy Wenniger-Prick CJ.

Eur J Paediatr Neurol. 2011 May;15(3):197-204. doi: 10.1016/j.ejpn.2011.03.005. Epub 2011 Apr 20. Review.

PMID:
21511505
[PubMed - indexed for MEDLINE]
15.

Metabolic myopathies: update 2009.

van Adel BA, Tarnopolsky MA.

J Clin Neuromuscul Dis. 2009 Mar;10(3):97-121. doi: 10.1097/CND.0b013e3181903126. Review.

PMID:
19258857
[PubMed - indexed for MEDLINE]
16.

Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review.

Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S.

Health Technol Assess. 2004 Mar;8(12):iii, 1-121. Review.

PMID:
14982654
[PubMed - indexed for MEDLINE]
Free Article
17.

[Clinical presentation of inborn metabolic diseases in the neonatal period].

Labarthe F, Tardieu M, de Parscau L, Lamireau D.

Arch Pediatr. 2012 Sep;19(9):953-8. doi: 10.1016/j.arcped.2012.06.008. Epub 2012 Aug 9. French.

PMID:
22877859
[PubMed - indexed for MEDLINE]
18.

Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong.

Lee HC, Mak CM, Lam CW, Yuen YP, Chan AO, Shek CC, Siu TS, Lai CK, Ching CK, Siu WK, Chen SP, Law CY, Tai HL, Tam S, Chan AY.

Chin Med J (Engl). 2011 Apr;124(7):983-9.

PMID:
21542954
[PubMed - indexed for MEDLINE]
Free Article
19.

Human biochemical genetics: an insight into inborn errors of metabolism.

Yu C, Scott CR.

J Zhejiang Univ Sci B. 2006 Feb;7(2):165-6.

PMID:
16421978
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

[Adult-onset metabolic diseases].

García Ribes A, Martínez González M, García Cazorla A.

An Sist Sanit Navar. 2008;31 Suppl 2:75-89. Spanish.

PMID:
18953373
[PubMed - indexed for MEDLINE]
Free Article

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