Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan-Reference-Cited by-同舟云学术

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Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan

Published:2024-09-03 Issue: Volume: Page:1-7
ISSN:0036-5513
Container-title:Scandinavian Journal of Clinical and Laboratory Investigation
language:en
Short-container-title:Scandinavian Journal of Clinical and Laboratory Investigation

Author:

Ahmed Sibtain¹,Cai Ling²,Akbar Fizza³,Siddiqui Ayra⁴,DeBerardinis Ralph J.⁵⁶,Ni Min⁵,Vu Hieu⁵,Afroze Bushra²

Affiliation:

1. Section of Chemical Pathology, Department of Pathology and Laboratory Medicine, Aga Khan University

2. Quantitative Biomedical Research Center, Peter O’Donnell School of Public Health, UT Southwestern, TX, USA

3. Department of Paediatrics & Child Health, Aga Khan University Hospital, Karachi

4. Medical College, Aga Khan University Hospital, Karachi

5. Children’s Medical Center Research Institute at UT Southwestern, Texas, USA

6. Howard Hughes Medical Institute, UT Southwestern, Texas, USA

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/00365513.2024.2394983

Reference32 articles.

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

2. The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients

3. Combined methylmalonic aciduria and homocystinuria (cblC): Phenotype–genotype correlations and ethnic-specific observations

4. A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

5. The clinical presentation of cobalamin‐related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways

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