Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype-Reference-Cited by-同舟云学术

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Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype

Published:2011-07-23 Issue:9 Volume:48 Page:602-605
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Alfares A.,Nunez L. D.,Al-Thihli K.,Mitchell J.,Melancon S.,Anastasio N.,Ha K. C. H.,Majewski J.,Rosenblatt D. S.,Braverman N.

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 38 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. Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report;Journal of Korean Medical Science;2023

2. Identification of ACSF gene family as therapeutic targets and immune-associated biomarkers in hepatocellular carcinoma;Aging;2022-10-04

3. Function Identification of Bovine ACSF3 Gene and Its Association With Lipid Metabolism Traits in Beef Cattle;Frontiers in Veterinary Science;2022-01-06

4. Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients;Frontiers in Pediatrics;2021-11-25

5. Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2021-10

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