Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature-Reference-Cited by-同舟云学术

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

Published:2022-12 Issue: Volume:33 Page:100931
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Priestley Jessica R.C.,Pace Lisa M.,Sen Kuntal,Aggarwal Anjali,Alves Cesar Augusto P.F.,Campbell Ian M.,Cuddapah Sanmati R.,Engelhardt Nicole M.,Eskandar Marina,Jolín García Paloma C.,Gropman Andrea,Helbig Ingo,Hong Xinying,Gowda Vykuntaraju K.,Lusk Laina,Trapane Pamela,Srinivasan Varunvenkat M.,Suwannarat Pim,Ganetzky Rebecca D.

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

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3. Bi-allelic variants in MDH2: expanding the clinical phenotype;Ticci;Clin. Genet.,2022

4. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene;Sobreira;Hum. Mutat.,2015

5. Comparison of post-mortem urinary and vitreous humour organic acids;Bennett;Ann. Clin. Biochem.,1992

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