Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene-Reference-Cited by-同舟云学术

Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene

Published:2014-07 Issue:3 Volume:112 Page:242-246
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Li H.,Spencer L.,Nahhas F.,Miller J.,Fribley A.,Feldman G.,Conway R.,Wolf B.

Funder

Safra Research Fund

Publisher

Elsevier BV

Subject

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

Reference20 articles.

1. Animal biotinidase;Pispa;Ann. Med. Exp. Biol. Fenn.,1965

2. The biotin-dependent carboxylase deficiencies;Wolf;Am. J. Hum. Genet.,1982

3. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency;Wolf;Clin. Chim. Acta,1983

4. Biotinidase deficiency: if you have to have an inherited metabolic disease, this is the one to have;Wolf;Genet. Med.,2012

5. Biotinidase deficiency: initial clinical features and rapid diagnosis;Wolf;Ann. Neurol.,1985

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