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METHYLMALONIC ACIDURIA, mut(-) TYPE

MedGen UID:
343264
•Concept ID:
C1855116
•
Disease or Syndrome
Synonym: Methylmalonic Aciduria, mut(-) Type
 
OMIM®: 251000; 609058

Professional guidelines

PubMed

Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.
Ling S, Wu S, Shuai R, Yu Y, Qiu W, Wei H, Yang C, Xu P, Zou H, Feng J, Niu T, Hu H, Zhang H, Liang L, Wang Y, Chen T, Xu F, Gu X, Han L
Hum Genomics 2024 Jul 29;18(1):84. doi: 10.1186/s40246-024-00646-0. PMID: 39075538Free PMC Article
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.
Liang L, Ling S, Yu Y, Shuai R, Qiu W, Zhang H, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Gong Z, Chen T, Zhan X, Gu X, Han L
J Med Genet 2023 Dec 21;61(1):8-17. doi: 10.1136/jmg-2022-108682. PMID: 37316190

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