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PDF) Cystathionine β‐synthase deficiency in the E‐HOD registry‐Part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency - Yverneau - 2022 - Journal of Inherited Metabolic Disease - Wiley Online Library
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis - Kožich - 2021 - Journal of Inherited Metabolic Disease - Wiley