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Research article

First published 1992-4

Treatment of Inherited Neurometabolic Diseases: The Future

Pinar T. Ozand, Generoso G. Gascon

Journal of Child Neurology

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Review article

First published 2019-10

Gene-Based Approaches to Inherited Neurometabolic Diseases

Valentina Poletti, Alessandra Biffi

Human Gene Therapy

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Research article

First published 1992-4

Neurometabolic Diseases at a National Referral Center: Five Years Experience at the King Faisal Specialist Hospital and Research Centre

Pinar T. Ozand, Edward B. Devol, Generoso G. Gascon

Journal of Child Neurology

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Review article

First published 2012-5

Epilepsy in Children—When Should We Think Neurometabolic Disease?

Radhika Dhamija, Marc C. Patterson, Elaine C. Wirrell

Journal of Child Neurology

Free access

Case report

First published 1993-10

Posterior Paroxysmal Discharge: An Aid to Early Diagnosis in Lafora Disease

S Ponsford, I F Pye, E J Elliot

Journal of the Royal Society of Medicine

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Research article

First published 2026

Expanding the Genotypic Spectrum of SLC18A2 Mutation–Related Disorder—A Novel Mutation and Review of Literature

Sophia Brewer, Praveen Kumar Ramani, Kapil Arya

Journal of Child Neurology

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Research article

First published 2021-11

Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency

Kirt Martin, Alice McConnell, Sarah H. Elsea

Journal of Child Neurology

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Other

First published 2005-03

A Pediatric Neurologist's Clinical Experiences in Saudi Arabia

Enrique Chaves-Carballo

Journal of Child Neurology

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Other

First published 1999-04

Inherited Neurodegenerative Disease: The Evolution of Our Thinking

Alan K. Percy

Journal of Child Neurology

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Research article

First published 2026

Profound Biotinidase Deficiency as a Treatable Cause of Pediatric Diffuse Leukoencephalopathy and Diffusion Restriction

Soumya Jyoti Raha, Arushi Gahlot Saini, Savita Verma Attri [...]

Journal of Child Neurology

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