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Open access

Case report

First published 2026

Clinical Presentation of a Patient With Hemochromatosis After Bariatric Surgery With HFE (H63D) Mutation

Samuele Petridis, Karla Baez Rodriguez, Naresh Punjabi [...]

Journal of Investigative Medicine High Impact Case Reports

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

Open access

Case report

First published 2024-5

Xanthinuria in a familial group of Munchkin cats and an unrelated domestic shorthair cat

Emily C Pritchard, Bianca Haase, Meredith J Wall [...]

Journal of Feline Medicine and Surgery

Free access

Research article

First published 2009-11

Hemochromatosis

Vanessa McElroy

Journal of Diagnostic Medical Sonography

Retricted access

Research article

First published 2024-10

Special low protein foods for phenylketonuria in Turkey: An examination of their nutritional composition compared to regular food

Ezgi Arslan, Gulden Fatma Gokcay

Nutrition and Health

Retricted access

Review article

First published 1998-02

Book Review: Neurology of Hereditary Metabolic Diseases of Children,2nd edition,by G. Lyon,R. D. Adams,and E. H. Kolodny. Published in 1997 by McGraw-Hill,New York,378 pages,$ 75. 00

Fatima de N. A. P. Shelton

Journal of Child Neurology

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

Review article

First published 2006-09

Review: Severe mental illness,antipsychotic drugs and the metabolic syndrome

Richard Ig Holt

The British Journal of Diabetes & Vascular Disease

Retricted access

Other

First published 2017-1

Anderson-Fabry disease. Conclusion

Giovanni Duro, Marco Lombardi

Giornale di Tecniche Nefrologiche e Dialitiche

Open access

Case report

First published 2023-6

Diabetic ketoacidosis in a patient known with Gitelman syndrome

Ida Ringsing Nielsen, Patricia Almine Skat-Rørdam, Ivan Werner Jensen

JRSM Open

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