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1-6 of 6 results for congenital glycosylation disorder type I

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First published 2014

A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)

Yasser Al-Sarraj, Tawfeg Ben-Omran, Mohammed Tolefat [...]

Journal of Inborn Errors of Metabolism and Screening

Retricted access

Other

First published 2012-2

Nawal Makhseed, Gursev Dhaunsi, Jaak Jaeken

Journal of Child Neurology

Retricted access

Research article

First published 2017-5

Arunabha Ghosh, Jill Urquhart, Sarah Daly [...]

Journal of Child Neurology

Open access

Research article

First published 2018-11

HA Kingma, FH van der Sluijs, MR Heiner-Fokkema

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Open access

Case report

First published 2025

Joanna Odenthal, Henry C. Lin, Kimberly Trieschmann

Sage Open Medical Case Reports

Retricted access

Announcement

First published 2006

E. Morava, M.A. Willemsen, S. Wopereis [...]

European Journal of Ophthalmology