Sage Journals: Discover world-class research

Free access

Research article

First published 2009-11

Hemochromatosis

Vanessa McElroy

Journal of Diagnostic Medical Sonography

Retricted access

Research article

First published 2006-06

Emerging Strategies for the Treatment of Hereditary Metabolic Storage Disorders

Roscoe O. Brady

Rejuvenation Research

Open access

Review article

First published 2024

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management

Wireko Andrew Awuah, Joecelyn Kirani Tan, Anastasiia D Shkodina [...]

Sage Open Medicine

Retricted access

Announcement

First published 2008-5

Ophthalmologic Abnormalities in Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency: Presentation of a Long-Term Survivor

V. Sturm

European Journal of Ophthalmology

Retricted access

Other

First published 2017-1

Anderson-Fabry disease. Conclusion

Giovanni Duro, Marco Lombardi

Giornale di Tecniche Nefrologiche e Dialitiche

Free access

Review article

First published 2010-03

A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/ hereditary inclusion body myopathy,a sugar-deficient myopathy: a review

May Christine V. Malicdan, Satoru Noguchi, Ichizo Nishino

Therapeutic Advances in Neurological Disorders

Retricted access

Research article

First published 2000-12

Systemic Oxygen-Free Radical Production in Iron-Loaded Mice

Wally J. Bartfay, Emma Bartfay

Western Journal of Nursing Research

Retricted access

Other

First published 2010-03

From Apneic Spells to the Development of Hypertensive Hydrocephalus: A Case Report of Homocystinuria With Early Onset

Rosa Maria Cerbo, Rita Cabano, Giuseppina Lombardi [...]

Journal of Child Neurology

Open access

Review article

First published 2026-3

The hitchhiker’s guide to feline xanthinuria

Michelle M Kim, Brandon D Velie, Paul A Sheehy [...]

Journal of Feline Medicine and Surgery

Retricted access

Research article

First published 2015-5

Etiologic Spectrum of Biopsy-Proven Peripheral Neuropathies in Childhood from a Resource-Poor Setting

Pramod Krishnan, Anita Mahadevan, Parayil Sankaran Bindu [...]

Journal of Child Neurology

Search results