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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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| Publicado no: | Ann Indian Acad Neurol |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer - Medknow
2020
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| Assuntos: | |
| Acesso em linha: | 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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