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Research article

First published 2023-5

Angiopathy and Stroke Associated with Homocystinuria in Childhood

Zeferino Demartini, Pedro Juan Furtado Neves, Andre Luis Santos do Carmo [...]

Vascular and Endovascular Surgery

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Other

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

Open access

Research article

First published 2018

Recurrent Encephalopathy During Febrile Illnesses in a 6-Year-Old Boy

Eliza Szuch, Jeanna Auriemma

Sage Open Pediatrics

Open access

Research article

First published 2018-12-20

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium

Nicholas Ah Mew, Avital Cnaan, Robert McCarter [...]

Translational Science of Rare Diseases

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Review article

First published 2010-10

Review: Therapeutic approaches for lysosomal storage diseases

Gregory M. Pastores

Therapeutic Advances in Endocrinology and Metabolism

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Research article

First published 2015-7

Thiamin in Clinical Practice

Laura L. Frank

Journal of Parenteral and Enteral Nutrition

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Research article

First published 2012-7

Intracerebroventricular Transplantation of Human Bone Marrow-Derived Multipotent Progenitor Cells in an Immunodeficient Mouse Model of Mucopolysaccharidosis Type I (MPS-I)

Zhenhong Nan, Laurie Shekels, Oleg Ryabinin [...]

Cell Transplantation

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Review article

First published 1972-6

The Present Status of Vitamin B12 and Folic Acid Deficiency in Psychiatric Illness

Ralph Shulman

The Canadian Journal of Psychiatry

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Other

First published 1996-01

Etiologic Classification of Infantile Spasms in 140 Cases: Role of Positron Emission Tomography

Harry T. Chugani, Jon R. Conti

Journal of Child Neurology

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