Results 21 to 30 of about 8,189 (189)

Diagnosis of Methyl Malonicaciduria from 2013 to 2018 [PDF]

Revista Finlay, 2020
Foundation: methylmalonic aciduria is one of the most frequent organic acidurias and groups together a set of genetic defects, characterized by the excretion of elevated levels of urinemethyl malonic acid.
Alina Concepción Álvarez, Ivette Camayd Viera, Norma Elena de León Ojeda, Alina García García, Laritza Martínez Rey, Daniel Quintana Hernández   +5 more
doaj   +3 more sources

Clinical, magnetic resonance imaging, and neuropathological features of suspected inborn methylmalonic aciduria in a domestic shorthair kitten. [PDF]

J Vet Intern Med
A 10-month-old domestic shorthair kitten was evaluated for progressive neurological dysfunction characterized by ataxia, episodic opisthotonus, impaired vision, dysphagia and seizures.
Fisher C, Degl'Innocenti S, Ortiz A, Major A, Rawson F, Scarin G, Fadda A.   +6 more
europepmc   +2 more sources

An expanding spectrum of complications in isolated methylmalonic aciduria. [PDF]

J Mother Child, 2020
Isolated methylmalonic acidurias represent a heterogeneous genetic group of inborn errors of propionate metabolism with the common biochemical hallmark of elevated methylmalonic acid present in tissues and body fluids. It was first described in the 1960s and over the years better understanding of the disease and its presentation, earlier diagnosis, and
Forny P, Grunewald S.
europepmc   +3 more sources

Biochemical and genetic diagnosis of 287 probands with methylmalonic aciduria.

, 2022
Biochemical and genetic diagnosis of 287 probands with methylmalonic aciduria.
Tongfei Wu (1693510), Mengqiu Li (1369623), Chunyan Shi (1416169), Hui Dong (153701), Yupeng Liu (396584), Ruxuan He (12292317), Lulu Kang (684986), Yao Zhang (134381), Jiong Qin (541838), Dongxiao Li (4860226), Jinqing Song (12292320), Yi Liu (36759), Yuan Ding (617135), Junya Chen (12328906), Ying Jin (107917), Yanling Yang (427399), Qiao Wang (174321), Yanyan Ma (2910716), Xiyuan Li (1307673), Zhehui Chen (12292314)   +19 more
core   +1 more source

Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria. [PDF]

Commun Biol
Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting in loss of function of the enzyme methylmalonyl-CoA mutase (MMUT). Despite acute and persistent neurological symptoms, the pathogenesis of MMA in the central nervous system is poorly
Denley MCS, Straub MS, Marcionelli G, Güra MA, Penton D, Delvendahl I, Poms M, Vekeriotaite B, Cherkaoui S, Conte F, von Meyenn F, Froese DS, Baumgartner MR.   +12 more
europepmc   +2 more sources

Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome‐9

Molecular Genetics & Genomic Medicine, 2022
Background Succinate‐CoA ligase/synthetase (SCS) deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Variants in SUCLG1, the nuclear gene encoding the alpha subunit of the SCS enzyme playing a
Yi‐ming Chen, Wei Chen, Yue Xu, Chao‐sheng Lu, Mian‐mian Zhu, Rong‐yue Sun, Yihong Wang, Yuan Chen, Jiaming Shi, Dan Wang   +9 more
doaj   +1 more source

Prenatal diagnosis of 287 fetuses with a family history of methylmalonic aciduria.

, 2022
Prenatal diagnosis of 287 fetuses with a family history of methylmalonic aciduria.
Tongfei Wu (1693510), Mengqiu Li (1369623), Chunyan Shi (1416169), Hui Dong (153701), Yupeng Liu (396584), Ruxuan He (12292317), Lulu Kang (684986), Yao Zhang (134381), Jiong Qin (541838), Dongxiao Li (4860226), Jinqing Song (12292320), Yi Liu (36759), Yuan Ding (617135), Junya Chen (12328906), Ying Jin (107917), Yanling Yang (427399), Qiao Wang (174321), Yanyan Ma (2910716), Xiyuan Li (1307673), Zhehui Chen (12292314)   +19 more
core   +1 more source

Evaluation of methylmalonic aciduria-related markers in 222 amniotic fluid samples.

, 2022
Evaluation of methylmalonic aciduria-related markers in 222 amniotic fluid samples.
Tongfei Wu (1693510), Mengqiu Li (1369623), Chunyan Shi (1416169), Hui Dong (153701), Yupeng Liu (396584), Ruxuan He (12292317), Lulu Kang (684986), Yao Zhang (134381), Jiong Qin (541838), Dongxiao Li (4860226), Jinqing Song (12292320), Yi Liu (36759), Yuan Ding (617135), Junya Chen (12328906), Ying Jin (107917), Yanling Yang (427399), Qiao Wang (174321), Yanyan Ma (2910716), Xiyuan Li (1307673), Zhehui Chen (12292314)   +19 more
core   +1 more source

Methylmalonic aciduria-related markers in amniotic fluid samples detected using GC/MS and LC/MS/MS.

, 2022
Methylmalonic aciduria-related markers in amniotic fluid samples detected using GC/MS and LC/MS/MS.
Tongfei Wu (1693510), Mengqiu Li (1369623), Chunyan Shi (1416169), Hui Dong (153701), Yupeng Liu (396584), Ruxuan He (12292317), Lulu Kang (684986), Yao Zhang (134381), Jiong Qin (541838), Dongxiao Li (4860226), Jinqing Song (12292320), Yi Liu (36759), Yuan Ding (617135), Junya Chen (12328906), Ying Jin (107917), Yanling Yang (427399), Qiao Wang (174321), Yanyan Ma (2910716), Xiyuan Li (1307673), Zhehui Chen (12292314)   +19 more
core   +1 more source

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data

International Journal of Neonatal Screening, 2020
Sweden has one neonatal screening laboratory, receiving 115 to 120 thousand samples per year. Among the one million babies screened by tandem mass spectrometry from November 2010 until July 2019, a total of 665 babies were recalled and 311 verified as ...
Lene Sörensen, Ulrika von Döbeln, Henrik Åhlman, Annika Ohlsson, Martin Engvall, Karin Naess, Carolina Backman-Johansson, Yvonne Nordqvist, Anna Wedell, Rolf H. Zetterström   +9 more
doaj   +1 more source