methylmalonic acidemia

نتایج جستجو برای: methylmalonic acidemia

تعداد نتایج: 2180 فیلتر نتایج به سال:

Association Of Esophageal Atresia Without Fistula and Methylmalonic Acidemia: The First Case In The Literature

Journal: :The journal of Dr. Behcet Uz Children s Hospital 2018

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Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type

Journal: :Stem Cell Research 2018

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1291: Recurrent Acidosis in a Pediatric Patient as a Presentation of Late-Onset Methylmalonic Acidemia

Journal: :Critical Care Medicine 2020

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Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia

Journal: :Journal of Genetic Medicine 2017

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Safety and efficacy of liver transplantation for methylmalonic acidemia: A systematic review and meta-analysis

Journal: :Transplantation Reviews 2021

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Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report

Journal: :World Journal of Clinical Cases 2020

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mut0 methylmalonic acidemia: Eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation

Journal: :Human Mutation 2000

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Perioperative characteristics and management of liver transplantation for isolated methylmalonic acidemia—the largest experience in China

Journal: :HepatoBiliary Surgery and Nutrition 2019

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Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings

Journal: :Scientific Reports 2020

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Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations

Journal: :Frontiers in Genetics 2019

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