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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Bibliografische gegevens

Hoofdauteurs:	Arthavan Selvanathan, Ashley Hertzog, Jacqui Russell, Rosie Junek, Carolyn Ellaway, Kate Lichkus, Adviye Ayper Tolun, Kaustuv Bhattacharya
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	Wiley 2026-05-01
Reeks:	JIMD Reports
Onderwerpen:	biomarkers cobalamin C disease hydroxocobalamin inborn errors of metabolism maculopathy neurocognitive outcomes
Online toegang:	https://doi.org/10.1002/jmd2.70091
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