Chargement en cours...

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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Ann Indian Acad Neurol
Auteurs principaux: Narayan, Vinu, Mahay, Sunita Bijarnia, Verma, Ishwar Chander, Puri, Ratna Dua
Format: Artigo
Langue:Inglês
Publié: Wolters Kluwer - Medknow 2020
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7313580/
https://ncbi.nlm.nih.gov/pubmed/32606525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/aian.AIAN_367_18
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!