Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program-Reference-Cited by-同舟云学术

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

Published:2015-11-13 Issue:2 Volume:39 Page:211-217
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Rips Jonathan,Almashanu Shlomo,Mandel Hanna,Josephsberg Sagi,Lerman-Sagie Tally,Zerem Ayelet,Podeh Ben,Anikster Yair,Shaag Avraham,Luder Anthony,Staretz Chacham Orna,Spiegel Ronen

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-015-9899-4.pdf

Reference21 articles.

1. Arnold GL, Koeberl DD, Matern D et al (2008) A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 93:363–370

2. Arnold GL, Salazar D, Neidich JA et al (2012) Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. Mol Genet Metab 106(4):439–441

3. Bannwart C, Wermuth B, Baumgartner R, Suormala T, Wiesmann UN (1992) Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. J Inherit Metab Dis 15:863–868

4. Baumgartner MR, Almashanu S, Suormala T et al (2001) The molecular basis of human 3- methylcrotonyl-CoA carboxylase deficiency. J Clin Invest 107:495–504

5. Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, Baumgartner MR (2005) 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Hum Mutat 26:164

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