Results 121 to 130 of about 565,458 (146)

Current Status of Newborn Screening in Southeastern and Central Europe. [PDF]

Int J Neonatal Screen
Požun N, Perko D, Anastasovska V, Barić I, Baša M, Battelino T, Bilandžija I, Brincat I, Brkušanin M, Djordević M, Dimova I, Drole Torkar A, Fumić K, Gladun S, Girginoudis P, Szatmári I, Kavečan I, Katanić J, Kotori V, Marić N, Martić J, Manđarelo O, Milenković T, Mlinarič M, Moldovanu F, Nanu M, Monostori P, Modeva I, Opančina B, Platis D, Raičević M, Remec ŽI, Repič Lampret B, Savov A, Skouma A, Sovtić A, Stoeva I, Toromanović A, Trampuž D, Usurelu N, Višekruna J, Vogazianos M, Zeyda M, Žerjav Tanšek M, Grošelj U.   +44 more
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Retrospective chart review of inherited and idiopathic dystonia. [PDF]

Front Genet
Alakkas A, Shinawi H, Bajwa JA, Alsinaidi O, Al-Hashim A.   +4 more
europepmc   +1 more source

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Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review

Clinica Chimica Acta, 2021
Methylmalonic acidemia (MMA) is a rare inherited metabolic disease caused by methylmalonyl-CoA deficiency or cobalamin metabolism disorder. It is mainly inherited in autosomal recessive mode. According to whether combined with homocysteinemia and the causative genes, it can be divided into many different subtypes.
Jianbo Shu, Chunquan Cai, Chao Wang
exaly   +3 more sources

W009 Pay attention to peripheral smear in patients with methylmalonic academia combined homocystinuria

Clinica Chimica Acta, 2022
L. Pang, B. Jin, J. Guan, N. Duan, Y. Xing, C. Huang, J. Du, H. Li   +7 more
exaly   +2 more sources

Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia

World Journal of Pediatrics, 2017
Isolated methylmalonic acidemia is a rare autosomal recessive metabolic disorder mostly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MUT). This study aimed to verify whether missense mutations in MUT in Chinese patients affect the stability and enzymatic activity of MCM.Eight Chinese patients were identified with novel ...
Lian-Shu, Han, Zhuo, Huang, Feng, Han, Yu, Wang, Zhu-Wen, Gong, Xue-Fan, Gu   +5 more
openaire   +2 more sources

Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment [PDF]

Frontiers in Neurology, 2022
BackgroundThe cblC type methylmalonic acidemia is the most common methylmalonic acidemia (MMA) in China. The biochemical characteristics of this disease include elevated methylmalonic acid and homocysteine (HCY), increased propionylcarnitine (C3 ...
Wenqi Song
exaly   +2 more sources

[Mutation screening and prenatal diagnosis of methylmalonic academia in a Chinese pedigree by Ion Torrent semiconductor sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2016
To identify pathogenic mutations in a Chinese pedigree affected with methylmalonic academia for genetic counseling and prenatal diagnosis.Molecular analysis of the MUT, MMACHC, MMAA and MMAB genes was performed for the proband with methylmalonic academia by Ion Torrent semiconductor sequencing.
Li, Li, Dingyuan, Ma, Yun, Sun, Jingjing, Zhang, Yuguo, Wang, Tao, Jiang, Zhengfeng, Xu   +6 more
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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.

Pakistan journal of pharmaceutical sciences, 2017
This article reported 1 child patient with early-onset methylmalonic acidemia and proceeded gene detection for the child and his parents. The detecting results showed that there were respectively heterozygosis mutations of c.609G>A,p.(Trp203*) and c.567dupT,p.(Ile190Tyrfs*13) in the MMA CHC gene of child's parents, and all of the diseases were entailed
Kai, Liu, Guohong, Chen, Yanli, Ma, Yixin, Xian, Zhang, Zhang   +4 more
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Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia

2023
Nikpour, Sara, Eshraghi, Peyman, Ghayoor, Ehsan, Ghaemi, Nosrat, Bagheri, Sepideh, Norouziasl, Samaneh, Lotfi, Mojtaba   +6 more
openaire   +1 more source

Renal Transplantation for Chronic Renal Failure in Methylmalonic Academia: A Case Report

Transplantation Journal, 2012
I. Matsumoto, T. Kenmochi, M. Maruyama, N. Akutsu, K. Ohtsuki, C. Iwashita, T. Ito, H. Kitamura, S. Yamamoto, Y. Shigematsu, T. Asano   +10 more
openaire   +1 more source