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ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.

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Bibliographic Details
Title: ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.
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
Description
ISSN:1364-6753
DOI:10.1007/s10048-026-00878-3