Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type
Author:
Publisher
Elsevier BV
Subject
Ophthalmology,Pediatrics, Perinatology and Child Health
Reference25 articles.
1. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type;Lerner-Ellis;Nat Genet,2006
2. Combined methylmalonic aciduria and homocystinuria (cblC): Phenotype-genotype correlations and ethnic-specific observations;Morel;Mol Genet Metab,2006
3. Late-onset cobalamin-C disorder: A challenging diagnosis;Ben-Omran;Am J Med Genet,2007
4. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance;Tsai;Am J Med Genet,2007
5. Epileptiform ocular movements with methylmalonic aciduria and homocystinuria;Cogan;Am J Ophthalmol,1980
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1. Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review;Orphanet Journal of Rare Diseases;2024-01-20
2. Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort;World Journal of Pediatrics;2023-12-09
3. Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis;Cell Reports Medicine;2022-07
4. Long-term retinal imaging of a case of suspected congenital rubella infection;American Journal of Ophthalmology Case Reports;2022-03
5. Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review;Human Genetics;2021-10-15
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