Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations-Reference-Cited by-同舟云学术

Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations

Published:2020-03 Issue: Volume:22 Page:100559
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Wesół-Kucharska Dorota,Kaczor Magdalena,Pajdowska Magdalena,Ehmke vel Emczyńska-Seliga Ewa,Bogdańska Anna,Kozłowski Dariusz,Piekutowska-Abramczuk Dorota,Ciara Elżbieta,Rokicki Dariusz

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference26 articles.

1. Causes of and diagnostic approach to methylmalonic acidurias;Fowler;J. Inherit. Metab. Dis.,2008

2. Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres;Zwickler;J. Inherit. Metab. Dis.,2008

3. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters;Hörster;J. Inherit. Metab. Dis.,2009

4. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to Mut,cblA or cblB complementation group;Merinero;J. Inherit. Metab. Dis.,2008

5. Mutation and biochemical analysis of 19 probands with mut0 and 13 with Mut- methylmalonic aciduria: identification of seven novel mutations;Lempp;Mol. Genet. Metab.,2007

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study;Orphanet Journal of Rare Diseases;2024-05-15

2. Efficient mass spectrometric characterization and classification of methylmalonic aciduria subtypes through urinary and blood metabolic profiles fusion;Microchemical Journal;2022-10

3. Integrative Proteo-Genomic Analysis for Recurrent Survival Prognosis in Colon Adenocarcinoma;Frontiers in Oncology;2022-06-30

4. Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report;BMC Pediatrics;2021-12