Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia-Reference-Cited by-同舟云学术

Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia

Published:2021-01 Issue:1 Volume:132 Page:38-43
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Becker Pierre-Hadrien,Demir Zeynep,Mozer Glassberg Yael,Sevin Caroline,Habes Dalila,Imbard Apolline,Mussini Charlotte,Rozenfeld Bar Lev Michal,Davit-Spraul Anne,Benoist Jean-François,Thérond Patrice,Slama Abdelhamid,Jacquemin Emmanuel,Gonzales Emmanuel,Gaignard Pauline

Funder

Association Belge contre les Maladies Neuro-Musculaires

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference20 articles.

1. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function;Bjursell;Am. J. Hum. Genet.,2011

2. Neonatal hepatic steatosis by disruption of the adenosine kinase gene;Boison;Proc. Natl. Acad. Sci. U. S. A.,2002

3. Adenosine kinase deficiency in the brain results in maladaptive synaptic plasticity;Sandau;J. Neurosci.,2016

4. Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options;Staufner;J. Inherit. Metab. Dis.,2016

5. Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: a case report;Shakiba;Adv Rare Dis.,2016

Cited by 9 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. Novel homozygous ADK out-of-frame deletion causes adenosine kinase deficiency with rare phenotypes of sepsis, metabolites disruption and neutrophil dysfunction;Gene;2024-07

2. Rare Treatable Neurometabolic Condition — Adenosine Kinase Deficiency;Indian Journal of Pediatrics;2024-06-17

3. Developmental and foliation changes due to dysregulation of adenosine kinase in the cerebellum;Scientific Reports;2023-11-14

4. Understanding natural selection in Holocene Europe using multi-locus genotype identity scans;2023-04-25

5. Hypermethioninemia Due to Adenosine Kinase Deficiency;Genetic Syndromes;2023