Sage Journals: Discover world-class research

Retricted access

Case report

First published 2009-04

Spondylocostal Dysostosis Associated with Methylmalonic Aciduria

Rachel S. Honjo, Erasmo B. Casella, Maria A. Vieira [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2020-04-13

Practical recommendations for the transition to adulthood for the adolescent with a genetic diagnosis. Special emphasis on inborn errors of metabolism

Mauricio De Castro, Clesson Turner, Brian Kirmse

Translational Science of Rare Diseases

Free access

Research article

First published 2016-11-29

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

Emil Ylikallio, Mari Auranen, Ibrahim Mahjneh [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2020-5

Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis

Prajay Patel, Georgia Antoniou, Damian Clark [...]

Journal of Child Neurology

Free access

Case report

First published 2022-03-01

Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report

Danique Beijer, Kiran Polavarapu, Veeramani Preethish-Kumar [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2015-6

Inborn Errors in Immunity

N.M. Moutsopoulos, M.S. Lionakis, G. Hajishengallis

Journal of Dental Research

Retricted access

Review article

First published 2019-5

Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities

Gustavo H.B. Maegawa

Journal of Child Neurology

Retricted access

Other

First published 2010-03

Utilization of Blood Spot Testing for Metabolic-Genetic Disorders in Honduras: Is it Time for Newborn Screening?

Jonathan L. Slaughter, Lesby Espinoza, Isaac Molinero [...]

Journal of Child Neurology

Open access

Research article

First published 2020-04-13

How do I treat when there is no treatment?

Debra S. Regier, E. Hallie Andrew, Miriam Bloom [...]

Translational Science of Rare Diseases

Open access

Case report

First published 2025-3

Sinonasal Manifestations of Severe Cherubism: A Case with 11-year Follow-up

Keun-Woo Jung, Ji Min Yun, Jeon Mi Lee [...]

Ear,Nose & Throat Journal

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