Associated Papers
Unveiling long-standing low-molecular-weight proteinuria: A proximal tubular mitochondrial enzyme impairment caused by EHHADH mutation.
Tanaka H et al.
Pediatric Nephrology (berlin, Germany), 2026
46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review.
Correa Brito L et al.
International Journal of Molecular Sciences, 2026
The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities.
Rollier P et al.
Molecular Genetics and Metabolism Reports, 2025
Inherited non-FGF23-mediated phosphaturic disorders: A kidney-centric review.
Walker E et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2024
Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia.
Ragate DC et al.
Journal of Bone and Mineral Metabolism, 2024
Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology.
Lemaire M
American Journal of Physiology. Renal Physiology, 2021
Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM.
Forst AL et al.
Frontiers in Physiology, 2021
Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs.
Chong CS et al.
International Journal of Molecular Sciences, 2019
Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.
Assmann N et al.
Cell Reports, 2016
Renal Fanconi syndrome: taking a proximal look at the nephron.
Klootwijk ED et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2015
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
Klootwijk ED et al.
The New England Journal of Medicine, 2014