3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children-Reference-Cited by-同舟云学术

3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children

Published:1998-03 Issue:3 Volume:132 Page:519-523
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Gibson K.M.,Bennett M.J.,Naylor E.W.,Morton D.H.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference13 articles.

1. Disorders of leucine metabolism;Gibson,1996

2. Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome;Bannwart;J Inherit Metab Dis,1992

3. Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency;Elpeleg;J Pediatr,1992

4. Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age 20 months with sopor, hypoglycemia and ketoacidosis;Gitzelmann;J Inherit Metab Dis,1987

5. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness;Layward;J Inherit Metab Dis,1989

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