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Bridging the gap: pyridoxine-dependent epilepsy (PDE-ALDH7A1) diagnosis and management in a low-resource setting.

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Title: Bridging the gap: pyridoxine-dependent epilepsy (PDE-ALDH7A1) diagnosis and management in a low-resource setting.
Authors: Nugrahanto AP; Division of Neurology, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia., Triono A; Division of Neurology, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia. agung.triono@ugm.ac.id., Nurani N; Division of Nutrition and Metabolic, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia., Iskandar K; Division of Neurology, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/UGM Academic Hospital, Yogyakarta, Indonesia., Nurputra DK; Division of Neurology, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia., Hidayati IS; Division of Nutrition and Metabolic, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia., Herini ES; Division of Neurology, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.
Source: Neurogenetics [Neurogenetics] 2025 Sep 19; Vol. 26 (1), pp. 67. Date of Electronic Publication: 2025 Sep 19.
Publication Type: Case Reports; Journal Article
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/s10048-025-00850-7