Milder clinical and biochemical phenotypes associated with the c.482G > A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening-Reference-Cited by-同舟云学术

Milder clinical and biochemical phenotypes associated with the c.482G > A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening

Published:2017-09 Issue:1-2 Volume:122 Page:60-66
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Almannai Mohammed,Marom Ronit,Divin Kristian,Scaglia Fernando^ORCID,Sutton V. Reid,Craigen William J.,Lee Brendan,Burrage Lindsay C.,Graham Brett H.^ORCID

Funder

NIH

Publisher

Elsevier BV

Subject

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

Reference42 articles.

1. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte;Weisfeld-Adams;Mol. Genet. Metab.,2010

2. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type;Lerner-Ellis;Nat. Genet.,2006

3. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management;Carrillo-Carrasco;J. Inherit. Metab. Dis.,2012

4. Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes;Carrillo-Carrasco;J. Inherit. Metab. Dis.,2012

5. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC);Rosenblatt;J. Inherit. Metab. Dis.,1997

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