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Retricted access

Research article

First published 2006-06

Emerging Strategies for the Treatment of Hereditary Metabolic Storage Disorders

Roscoe O. Brady

Rejuvenation Research

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Research article

First published 2026

Successful multidisciplinary management of pregnancy in a woman with glycogen storage disease type IIIA

Loai A. Shakerdi, Halima Mshelia, Abrar Al Zaher [...]

Obstetric Medicine

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Research article

First published 2014-10

The Relative Frequency of Lysosomal Storage Disorders

Srilatha Kadali, Anusha Kolusu, Maheshwar Reddy Gummadi [...]

Journal of Child Neurology

Retricted access

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

Retricted access

Research article

First published 2012-05

Identification of Mutations Underlying 20 Inborn Errors of Metabolism in the United Arab Emirates Population

Imen Ben-Rebeh, Jozef L. Hertecant, Fatma A. Al-Jasmi [...]

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2023

Successful combined umbilical cord blood and bone marrow transplantation from an HLA-matched sibling for MPS VI: a case report

Pankti Haria, Vinayak Kedage, Pradnya Dalvi [...]

Therapeutic Advances in Rare Disease

Open access

Review article

First published 2019

Metabolic lipid muscle disorders: biomarkers and treatment

Corrado Angelini, Elena Pennisi, Sara Missaglia [...]

Therapeutic Advances in Neurological Disorders

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Other

First published 2017-1

Anderson-Fabry disease. Conclusion

Giovanni Duro, Marco Lombardi

Giornale di Tecniche Nefrologiche e Dialitiche

Open access

Research article

First published 2016

Late Diagnosis of Fanconi-Bickel Syndrome

Nirupama Gupta, Bimota Nambam, David A. Weinstein [...]

Journal of Inborn Errors of Metabolism and Screening

Retricted access

Research article

First published 2000-08

Pathology of Glycosphingolipid Metabolism: The Molecular and Cellular Basis of Neurodegenerative Disease

Michaela Wendeler, Thomas Kolter, Konrad Sandhoff

The Neuroscientist

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