COBALAMIN C DISEASE AND EXPANDED NEWBORN SCREENING: THE CALIFORNIA EXPERIENCE.-Reference-Cited by-同舟云学术

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COBALAMIN C DISEASE AND EXPANDED NEWBORN SCREENING: THE CALIFORNIA EXPERIENCE.

Published:2007-01 Issue:1 Volume:55 Page:S90
ISSN:1081-5589
Container-title:Journal of Investigative Medicine
language:en
Short-container-title:Journal of Investigative Medicine

Author:

Cusmano-Ozog K.,Lorey F.,Levine S.,Martin M.,Nicholas E.,Packman S.,Rosenblatt D. S.,Cowan T. M.,Enns G. M.

Publisher

BMJ

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Cited by 7 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. Pearls & Oy-sters: Late-Onset Cobalamin C Deficiency Presenting With Subacute Combined Degeneration;Neurology;2023-03-07

2. Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl;Clinica Chimica Acta;2022-08

3. Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet;Frontiers in Pediatrics;2022-07-12

4. Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations;Frontiers in Genetics;2022-01-07

5. Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis;Molecular Genetics & Genomic Medicine;2020-03-21

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