Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance-Reference-Cited by-同舟云学术

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Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance

Published:2015-04 Issue:4 Volume:114 Page:537-546
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Weisfeld-Adams James D.,McCourt Emily A.,Diaz George A.,Oliver Scott C.

Publisher

Elsevier BV

Subject

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

Reference100 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. Decyanation of vitamin B12 by a trafficking chaperone;Kim;PNAS,2008

3. General health-related quality of life in preschool children with strabismus or amblyopia;Wen;Ophthalmology,2011

4. Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type;Gerth;J. AAPOS,2008

5. Late-onset cobalamin-C disorder: a challenging diagnosis;Ben-Omran;Am. J. Med. Genet. A,2007

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2. Vitamin B12 Deficiency and the Nervous System: Beyond Metabolic Decompensation—Comparing Biological Models and Gaining New Insights into Molecular and Cellular Mechanisms;International Journal of Molecular Sciences;2024-01-02

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4. Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?;Molecular Genetics and Metabolism;2023-11

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