Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin‐Treated Patients With Early‐Onset Cobalamin C Disease

ABSTRACT Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain...

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Manylion Llyfryddiaeth

Prif Awduron:	Arthavan Selvanathan, Ashley Hertzog, Jacqui Russell, Rosie Junek, Carolyn Ellaway, Kate Lichkus, Adviye Ayper Tolun, Kaustuv Bhattacharya
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	Wiley 2026-05-01
Cyfres:	JIMD Reports
Pynciau:	biomarkers cobalamin C disease hydroxocobalamin inborn errors of metabolism maculopathy neurocognitive outcomes
Mynediad Ar-lein:	https://doi.org/10.1002/jmd2.70091
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