Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction-Reference-Cited by-同舟云学术

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Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction

Published:2008-05-14 Issue:5 Volume:3 Page:1430-1436
ISSN:1555-9041
Container-title:Clinical Journal of the American Society of Nephrology
language:en
Short-container-title:CJASN

Author:

Bockenhauer Detlef,Bokenkamp Arend,van't Hoff William,Levtchenko Elena,Kist-van Holthe Joana E.,Tasic Velibor,Ludwig Michael

Publisher

American Society of Nephrology (ASN)

Subject

Transplantation,Nephrology,Critical Care and Intensive Care Medicine,Epidemiology

Reference35 articles.

1. ORGANIC-ACIDURIA, DECREASED RENAL AMMONIA PRODUCTION, HYDROPHTHALMOS, AND MENTAL RETARDATIONA Clinical Entity

2. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

3. Dent Disease with Mutations in OCRL1

4. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.

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1. Is hyperammonemia helpful in detecting syndromic tubulopathies with early extrarenal manifestations? A case report of Lowe’s syndrome;Egyptian Pediatric Association Gazette;2024-08-16

2. WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration;Molecular Biology of the Cell;2024-06-01

3. Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome;Pediatric Nephrology;2024-04-08

4. Long-term kidney function of Lowe syndrome: a nationwide study of paediatric and adult patients;Nephrology Dialysis Transplantation;2024-04-03

5. Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia;Journal of Bone and Mineral Metabolism;2024-02-04

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