The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency-Reference-Cited by-同舟云学术

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The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

Published:2001-02-15 Issue:4 Volume:107 Page:495-504
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:J. Clin. Invest.

Author:

Baumgartner Matthias R.,Almashanu Shlomo,Suormala Terttu,Obie Cassandra,Cole Robert N.,Packman Seymour,Baumgartner E. Regula,Valle David

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Reference41 articles.

1. Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome

2. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children

3. Newborn Screening by Tandem Mass Spectrometry: A New Era

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1. Structural insight into synergistic activation of human 3-methylcrotonyl-CoA carboxylase;Nature Structural & Molecular Biology;2024-09-02

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

3. The cryo-EM structure of trypanosome 3-methylcrotonyl-CoA carboxylase provides mechanistic and dynamic insights into its enzymatic function;Structure;2024-07

4. An Effective Therapy of Acute Necrotizing Encephalopathy of Childhood: a Case Report;Alexandria Journal of Pediatrics;2024-01

5. The cryo-EM structure of trypanosome 3-methylcrotonyl-CoA carboxylase provides mechanistic and dynamic insights into enzymatic function;2023-11-27

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