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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...
Uloženo v:
| Vydáno v: | Ann Indian Acad Neurol |
|---|---|
| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wolters Kluwer - Medknow
2020
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| Témata: | |
| On-line přístup: | 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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