ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.
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| Title: | ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review. |
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| Authors: | Triono A; Division of Neurology, Department of Child Health, Faculty of Medicine, Public Health and Nursing/Sardjito General Hospital, Universitas Gadjah Mada, Yogyakarta, 55281, Indonesia., Iskandar K; Division of Neurology, Department of Child Health, Faculty of Medicine, Public Health and Nursing/UGM Academic Hospital, Universitas Gadjah Mada, Yogyakarta, Indonesia.; Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia., Nurani N; Division of Nutrition and Metabolic, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia., Hidayati IS; Division of Nutrition and Metabolic, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia., Nugrahanto AP; Division of Neurology, Department of Child Health, Faculty of Medicine, Public Health and Nursing/Sardjito General Hospital, Universitas Gadjah Mada, Yogyakarta, 55281, Indonesia., Mooiindie KH; Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia., Herini ES; Division of Neurology, Department of Child Health, Faculty of Medicine, Public Health and Nursing/Sardjito General Hospital, Universitas Gadjah Mada, Yogyakarta, 55281, Indonesia. herini_es@yahoo.com. |
| Source: | Neurogenetics [Neurogenetics] 2026 Jan 16; Vol. 27 (1), pp. 9. Date of Electronic Publication: 2026 Jan 16. |
| Publication Type: | Journal Article; Case Reports; Review |
| Journal Info: | Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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