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Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene

• Authors : Shengnan Wang; Xu Wang; Jianxin Xi

Subjects: cobalamin C deficiency; MMACHC; c.484G>A

• Source: Frontiers in Neurology, Vol 13 (2022)

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Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations

• Authors : Weigang Lv; Lili Liang; Xin Chen

Subjects: noninvasive prenatal testing; methylmalonic acidemia cblC type; circulating single molecule amplification and re-sequencing technology

• Source: Frontiers in Genetics, Vol 12 (2022)

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Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis.

• Authors : Wang, Chao^1,2 (AUTHOR); Liu, Yang³ (AUTHOR); Cai, Fengying⁴ (AUTHOR)

• Source: Molecular Genetics & Genomic Medicine. Jun2020, Vol. 8 Issue 6, p1-9. 9p.

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Report on the heterozygosis mutations of c.567dupT, p.(Ilel90Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia.

• Authors : Kai Liu¹; Guohong Chen¹; Yanli Ma¹

Subjects: *HETEROZYGOSITY; *GENETIC mutation; *CHILD patients

• Source: Pakistan Journal of Pharmaceutical Sciences. May2016 Supplement, Vol. 29, p1109-1111. 3p. 1 Graph.

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Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.

• Authors : Gündüz, Mehmet¹ ; Ekici, Filiz² ; Özaydın, Eda³

• Source: European Journal of Pediatrics. Dec2014, Vol. 173 Issue 12, p1707-1710. 4p.

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Combined Methylmalonic Aciduria and Homocystinuria cblC Type of a Taiwanese Infant With c.609G>A and c.567dupT Mutations in the MMACHC Gene

• Authors : Jenn-Tzong Chang; Ying-Yao Chen; Tze-Tze Liu

Subjects: cobalamin; homocystinuria; methylmalonic aciduria

• Source: Pediatrics and Neonatology, Vol 52, Iss 4, Pp 223-226 (2011)

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Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study

• Authors : Ling Su; Huiying Sheng; Xiuzhen Li

Subjects: Methylmalonic aciduria; MMACHC gene; MMUT gene

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-18 (2024)

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Report - Report on the heterozygosis mutations of c.567dupT, p.(Ile190Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia.

• Authors : Liu K; Department of Pediatric Neurology, Zhengzhou Children's Hospital, Henan, China.; Chen G

Subjects: Heterozygote* ; Mutation*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics Methylmalonic acidemia

• Source: Pakistan journal of pharmaceutical sciences [Pak J Pharm Sci] 2016 May; Vol. 29 (3 Suppl), pp. 1109-11.Publisher: Faculty of Pharmacy, University of Karachi Country of Publication: Pakistan NLM ID: 9426356 Publication Model: Print Cited Medium: Print

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Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency

• Authors : Xiaoyu Liu; Huijie Xiao; Yong Yao

Subjects: cblC; MMACHC gene; variant c.80A>G

• Source: Frontiers in Pediatrics, Vol 10 (2023)

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晚发型甲基丙二酸血症临床特征与综合康复治疗.

• Authors : 李艳艳¹; 李 欣¹; 周 璇¹

• Source: Chinese Journal of Rehabilitation Medicine. 2023, Vol. 38 Issue 12, p1683-1688. 6p.

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