GROWTH RETARDATION AND URINARY LOSS OF GROWTH HORMONE IN CYSTINOSIS [PDF]
, 1993 Niels Thomas Hertel +3 more
openalex +1 more source
Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay [PDF]
, 1999 Lionel Forestier +8 more
openalex +1 more source
Rehabilitation of young adults during renal replacement therapy in Europe: The presence of disabilities [PDF]
, 2017 The aim of this study was to analyse rehabilitation during RRT in 617 young adults from different European countries who started dialysis or transplantation before the age of 15 years. The data were derived from the EDTA Registry patient data files and a
Broyer, M. +9 more
core
The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion [PDF]
, 2000 Jeffrey W. Touchman +9 more
openalex +1 more source
NeuroImage: Clinical, 2020 Cystinosis, a genetic rare disease characterized by cystine accumulation and crystallization, results in significant damage in a multitude of tissues and organs, such as the kidney, thyroid, eye, and brain.
Ana A. Francisco +3 more
doaj
Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter [PDF]
, 2001 Vasiliki Kalatzis
openalex +1 more source
Insuficiência Renal Crónica – Casuística de 16 Anos (1986-2001) da Unidade de Nefrologia do Hospital de Dona Estefânia [PDF]
, 2003 Entre Janeiro 1986 e Dezembro de 2001 foram seguidos na nossa Unidade 100 doentes com Insuficiência Renal Crónica com idade igual ou inferior a 15 anos (M:F = 54:46; idade ≥ 0 ≤15 anos).
Castro, I
core
The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences with the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis If Mutated in a Critical Region [PDF]
, 2001 Chanika Phornphutkul +6 more
openalex +1 more source