Case series of creatine deficiency syndrome due to guanidinoacetate methyltransferase deficiency

Guanidinoacetate methyltransferase (GAMT) deficiency is the second most common defect in the creatine metabolism pathway resulting in cerebral creatine deficiency syndrome (CCDS). We report three patients from two unrelated families, diagnosed with GAMT deficiency on next-generation sequencing. All...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Vinu Narayan, Sunita Bijarnia Mahay, Ishwar Chander Verma, Ratna Dua Puri
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer Medknow Publications 2020-01-01
Colecção:Annals of Indian Academy of Neurology
Assuntos:
creatine deficiency
guanidinoacetate methyltransferase
happy demeanor
intellectual disability
Acesso em linha:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=3;spage=347;epage=351;aulast=
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados