Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening-Reference-Cited by-同舟云学术

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening

Published:2012-08 Issue:4 Volume:106 Page:439-441
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Arnold Georgianne L.,Salazar Denise,Neidich Julie A.,Suwannarat Pim,Graham Brett H.,Lichter-Konecki Uta,Bosch Annet M.,Cusmano-Ozog Kristina,Enns Greg,Wright Erica L.,Lanpher Brendan C.,Owen Natalie N.,Lipson Mark H.,Cerone Roberto,Levy Paul,Wong Lee-Jun C.,Dezsofi Antal

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference15 articles.

1. Branched chain organic acidurias;Sweetman,2001

2. Isolated biotin-resistant 3-methylcrotonyl-CoA-carboxylase deficiency in two sibs;Beemer;Eur. J. Pediatr.,1982

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

4. An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency detected by newborn screening for maple syrup urine disease;Ihara;Eur. J. Pediatr.,1997

5. Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology;Mourmans;J. Inherit. Metab. Dis.,1995

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China;Molecular Genetics and Metabolism Reports;2024-09

2. An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test;Molecular Genetics and Metabolism Reports;2024-09

3. Organic Acidemias: Clinical Presentation in Neonates;Newborn;2024-01-05

4. Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening;Turkish Archives of Pediatrics;2023-06-14

5. Disorders of Metabolism of Amino Acids and Related Compounds;Genetic Disorders and the Fetus;2021-04-20