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...

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Detalles Bibliográficos
Autores principales: Narayan, Vinu, Mahay, Sunita Bijarnia, Verma, Ishwar Chander, Puri, Ratna Dua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313580/
https://www.ncbi.nlm.nih.gov/pubmed/32606525
http://dx.doi.org/10.4103/aian.AIAN_367_18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313580/
https://www.ncbi.nlm.nih.gov/pubmed/32606525
http://dx.doi.org/10.4103/aian.AIAN_367_18

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