Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy-Reference-Cited by-同舟云学术

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy

Published:2015-02-17 Issue:3 Volume:36 Page:270-275
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Collison Frederick T.,Xie Yajing (Angela),Gambin Tomasz,Jhangiani Shalini,Muzny Donna,Gibbs Richard,Lupski James R.,Fishman Gerald A.,Allikmets Rando

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.3109/13816810.2015.1010736

Reference19 articles.

1. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management

2. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

3. Long-term Visual Outcome of Methylmalonic Aciduria and Homocystinuria, Cobalamin C Type

4. The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

5. Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. 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

3. An Educational Assessment of Evidence Used for Variant Classification;The Journal of Molecular Diagnostics;2022-06

4. Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists;Orphanet Journal of Rare Diseases;2022-02-02

5. Neurodevelopmental and Neuropsychiatric Disorders in Cobalamin C Disease: A Case Report and Review of the Literature;Molecular Case Studies;2022-02-01