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Research article

First published 1992-4

CT and MRI of the Brain in Inherited Neurometabolic Disorders

Jan Brismar

Journal of Child Neurology

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Research article

First published 2023-5

Use of Thalamus L-Sign to Differentiate Periventricular Leukomalacia From Neurometabolic Disorders

Sabahattin Yuzkan, Merve Emecen Sanli, Merve Balci [...]

Journal of Child Neurology

Free access

Book review

First published 1964-6

Book Review: Neurometabolic Disorders in Childhood

Alfred White Franklin

Journal of the Royal Society of Medicine

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Other

First published 2010-03

Lead Encephalopathy in an Infant Mimicking a Neurometabolic Disorder

Jitendra K. Sahu, Suvasini Sharma, Mahesh Kamate [...]

Journal of Child Neurology

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Research article

First published 2024-5

Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One

Muhammad Talal Alrifai, Yousof Alrumayyan, Duaa Baarmah [...]

Journal of Child Neurology

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Research article

First published 2026

A Wolf in Metabolic Clothing: Familial HLH Mimicking a Neurometabolic Disorder

Shubham Raj, Sanjhi Paliwal, Aniket Chhapariya [...]

Journal of Child Neurology

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Research article

First published 2014-11

Neurometabolic Disorder With Microcephaly,Dystonia,and Central Cyanosis Masquerading as Cerebral Palsy

Kalpana Devadathan, Mini Sreedharan, Sanuja Sarasam [...]

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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Case report

First published 2026

Severe Triosephosphate Isomerase Deficiency in Homozygous Twin Sisters: A Rare Cause of Neonatal Hemolytic Anemia and Neurometabolic Disorder

Chiraz Regaieg, Amel Ben Hamed, Manel Charfi [...]

Journal of Neonatology

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Research article

First published 2015-2

Long-Term Clinical Course of Glut1 Deficiency Syndrome

Aliza S. Alter, Kristin Engelstad, Veronica J. Hinton [...]

Journal of Child Neurology

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