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Emergency management of inherited metabolic diseases

Published:2002-11 Issue:7 Volume:25 Page:531-546
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Prietsch V.¹,Lindner M.¹,Zschocke J.²,Nyhan W. L.³,Hoffmann G. F.¹

Affiliation:

1. ; Division of Metabolic and Endocrine Diseases; University Children′s Hospital Heidelberg; Heidelberg

2. ; Institute of Human Genetics; University of Heidelberg; Heidelberg Germany

3. Department of Pediatrics; University of San Diego; California USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1022040422590/fullpdf

Reference43 articles.

1. Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease;Berry;N Engl J Med,1991

2. Postoperative metabolic decompensation in maple syrup urine disease is completely prevented by insulin;Biggemann;J Inherit Metab Dis,1993

3. Assessment of energy expenditure in metabolic disorders;Bodamer;Eur J Pediatr,1997

4. Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy;Brown-Harrison;Biochem Mol Med,1996

5. Urinary excretion of l-carnitine and acylcarnitines by patients withdisorders of organic acid metabolism: evidence for secondary insuficiency of l-carnitine;Chalmers;Pediatr Res,1984

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