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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.
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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  Data: ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.
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  Data: <searchLink fieldCode="AU" term="%22Triono+A%22">Triono A</searchLink>; Division of Neurology, Department of Child Health, Faculty of Medicine, Public Health and Nursing/Sardjito General Hospital, Universitas Gadjah Mada, Yogyakarta, 55281, Indonesia.<br /><searchLink fieldCode="AU" term="%22Iskandar+K%22">Iskandar K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Nurani+N%22">Nurani N</searchLink>; Division of Nutrition and Metabolic, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.<br /><searchLink fieldCode="AU" term="%22Hidayati+IS%22">Hidayati IS</searchLink>; Division of Nutrition and Metabolic, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.<br /><searchLink fieldCode="AU" term="%22Nugrahanto+AP%22">Nugrahanto AP</searchLink>; Division of Neurology, Department of Child Health, Faculty of Medicine, Public Health and Nursing/Sardjito General Hospital, Universitas Gadjah Mada, Yogyakarta, 55281, Indonesia.<br /><searchLink fieldCode="AU" term="%22Mooiindie+KH%22">Mooiindie KH</searchLink>; Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.<br /><searchLink fieldCode="AU" term="%22Herini+ES%22">Herini ES</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229709714%22">Neurogenetics</searchLink> [Neurogenetics] 2026 Jan 16; Vol. 27 (1), pp. 9. <i>Date of Electronic Publication: </i>2026 Jan 16.
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  Data: Journal Article; Case Reports; Review
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag%22">Springer-Verlag </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9709714 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1364-6753 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213646745%22">13646745 </searchLink><i>NLM ISO Abbreviation: </i>Neurogenetics <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s10048-026-00878-3
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        Text: English
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      – TitleFull: ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.
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              Text: 2026 Jan 16
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              Y: 2026
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