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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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Bibliografske podrobnosti
izdano v:Ann Indian Acad Neurol
Main Authors: Narayan, Vinu, Mahay, Sunita Bijarnia, Verma, Ishwar Chander, Puri, Ratna Dua
Format: Artigo
Jezik:Inglês
Izdano: Wolters Kluwer - Medknow 2020
Teme:
Online dostop: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
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