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Research article

First published 2016-11

Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation

Linda Dainese, Nicolas Adam, Sabah Boudjemaa [...]

Pediatric and Developmental Pathology

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Other

First published 2008-03

A Case of Congenital Glycogen Storage Disease Type IV With a Novel GBE1 Mutation

G. Praveen Raju, Hsin-Chang Li, Deeksha S. Bali [...]

Journal of Child Neurology

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Other

First published 2012-2

Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation

Sing-Chung Li, Wuh-Liang Hwu, Ju-Li Lin [...]

Journal of Child Neurology

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Case report

First published 2020-8

Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy

Daniel C Butler, W Bailey Glen, Cynthia Schandl [...]

Pediatric and Developmental Pathology

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Research article

First published 2017-03

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy

Haiqing Yi, Quan Zhang, Elizabeth D. Brooks [...]

Human Gene Therapy

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Review article

First published 2026

Liver Biopsy-Associated Diagnosis of Glycogen Storage Disease Type IV (Andersen Disease)

Ryou Ishikawa, Takeo Kondo, Sonoko Kondo [...]

Pediatric and Developmental Pathology

Open access

Research article

First published 2024

A United States-based patient-reported adult polyglucosan body disease registry: initial results

Jacy Sparks, Francesco Michelassi, John L. P. Thompson [...]

Therapeutic Advances in Rare Disease

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Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation

A Case of Congenital Glycogen Storage Disease Type IV With a Novel GBE1 Mutation

Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation

Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy

Liver Biopsy-Associated Diagnosis of Glycogen Storage Disease Type IV (Andersen Disease)

A United States-based patient-reported adult polyglucosan body disease registry: initial results