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First published 2012-2

Distinct Features of Congenital Disorder of Glycosylation Type IIx in Kuwait

Nawal Makhseed, Gursev Dhaunsi, Jaak Jaeken

Journal of Child Neurology

Retricted access

Research article

First published 2007-2

Mass Spectrometry in the Detection and Diagnosis of Congenital Disorders of Glycosylation

Yoshinao Wada

European Journal of Mass Spectrometry

Open access

Review article

First published 2022

Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective

Konstantin Feinberg

Therapeutic Advances in Rare Disease

Open access

Case report

First published 2025

Protein losing enteropathy due to congenital disorder of glycosylation: A case report

Joanna Odenthal, Henry C. Lin, Kimberly Trieschmann

Sage Open Medical Case Reports

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Other

First published 2001-06

Neurologic Course of Congenital Disorders of Glycosylation

Phillip L. Pearl, Donna Krasnewich

Journal of Child Neurology

Open access

Case report

First published 2013-7

rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia ( PMM2 Deficiency)

Bradley S. Miller, Meghann M. Duffy, O. Yaw Addo [...]

Journal of Investigative Medicine High Impact Case Reports

Free access

Other

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

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Research article

First published 2017-5

Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A

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

Journal of Child Neurology

Retricted access

Brief report

First published 2019-6

Unusual Presentation of PMM2-Congenital Disorder of Glycosylation With Isolated Strokelike Episodes in a Young Girl

Rajni Farmania, Puneet Jain, Suvasini Sharma [...]

Journal of Child Neurology

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Other

First published 2009-1

CDG Type Ia and Congenital Cytomegalovirus Infection: Two Coexisting Conditions

Ewa Jamroz, Dariusz Adamek, Justyna Paprocka [...]

Journal of Child Neurology

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