Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria-Reference-Cited by-同舟云学术

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Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria

Published:1986-03 Issue:3 Volume:108 Page:410-415
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Mitchell Grant A.,Watkins David,Melançon Serge B.,Rosenblatt David S.,Geoffroy Guy,Orquin Jacqueline,Homsy Magda Barsoum,Dallaire Louis

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference23 articles.

1. Disorders of propionate and methylmalonate metabolism;Rosenberg,1983

2. Epileptiform ocular movements with methylmalonic aciduria and homocystinuria;Cogan;Am J Ophthalmol,1980

3. Cobalamin deficiency and related disorders in infancy and childhood;Matthews;Eur J Pediatr,1982

4. Abnormal deoxyuridine suppression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man;Carmel;Blood,1982

5. Abnormal cobalamin metabolism in a megaloblastic child with homocystinuria, cystathioninuria, and methylmalonic aciduria;Linnell;J Inter Metab Dis,1983

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1. Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review;Orphanet Journal of Rare Diseases;2024-01-20

2. Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review;Human Genetics;2021-10-15

3. Cobalamin c disease: Cognitive dysfunction, spastic ataxic paraparesis, and cerebral white matter hyperintensities in a genetic but easily treatable cause!;Annals of Indian Academy of Neurology;2021

4. Molecular Disorders of Red Blood Cells, Platelets, and Coagulation System;2017

5. Ocular Manifestations of Inborn Errors of Metabolism;The Eye in Pediatric Systemic Disease;2017

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