The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization-Reference-Cited by-同舟云学术

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The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization

Published:2020-09 Issue:1-2 Volume:131 Page:171-180
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Dindo Mirco,Mandrile Giorgia,Conter Carolina,Montone Rosa,Giachino Daniela,Pelle Alessandra,Costantini Claudio,Cellini Barbara

Funder

Oxalosis and Hyperoxaluria Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference55 articles.

1. Primary Hyperoxalurias: Diagnosis and Treatment PEDIATRIC Nephrology;Ben-Shalom,2015

2. Primary Hyperoxaluria The New England Journal of Medicine;Cochat,2013

3. Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency in Primary Hyperoxaluria Type I FEBS letters;Danpure,1986

4. An update on primary hyperoxaluria nature reviews;Hoppe;Nephrology,2012

5. Hyperoxaluria and Systemic Oxalosis: An update on Current Therapy and Future Directions Expert Opinion on Investigational Drugs;Beck,2013

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2. Navigating the Evolving Landscape of Primary Hyperoxaluria: Traditional Management Defied by the Rise of Novel Molecular Drugs;Biomolecules;2024-04-23

3. Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria;Biochemical Journal;2024-04-22

4. A molecular journey on the pathogenesis of primary hyperoxaluria;Current Opinion in Nephrology & Hypertension;2024-04-11

5. Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium;Kidney International Reports;2023-10

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