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Article

Two Novel Heterozygous MCCC1 Mutations in a Neonate with Asymptomatic 3-methylcrotonyl-coenzyme A Carboxylase Deficiency.

Indian pediatrics - 15 Jun 2018

Yang Bicheng, Wang Feng

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Identifiers

PMID: 29978827

Genes

MCCC1

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Related research

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Research trail→

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Two Novel Heterozygous MCCC1 Mutations in a Neonate with Asymptomatic 3-methylcrotonyl-coenzyme A Carboxylase Deficiency.PMID 29978827Read ↗

[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency].Semantic proximity Read ↗

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.Semantic proximity Read ↗

[Clinical and genetic features of children with 3-methylcrotonyl-coenzyme A carboxylase deficiency: an analysis of six cases].Semantic proximity Read ↗

[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency].Semantic proximity Read ↗

3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.Semantic proximity Read ↗

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.Semantic proximity Read ↗

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.Semantic proximity Read ↗

Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.Semantic proximity Read ↗

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.Semantic proximity Read ↗

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.Semantic proximity Read ↗

3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.Semantic proximity Read ↗

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.Semantic proximity Read ↗

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