Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis [PDF]
, 2018 Cystinosis is a rare multisystemic progressive disorder mandating lifelong medical treatment. Knowledge on the intellectual and motor functioning, health-related quality of life and psychosocial adjustment in children with cystinosis is limited.
Ha Vinh, Russia +6 more
core
Fainting Fanconi syndrome clarified by proxy: a case report [PDF]
, 2017 BACKGROUND: Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses.
Bass, P +7 more
core +4 more sources
Renal Transplantation in Patients with Cystinosis – A Case Series
Indian Journal of TransplantationCystinosis is a rare autosomal recessive lysosomal storage disorder causing intracellular accumulation of cystine in different organs, leading to several organ dysfunctions. Renal involvement is the most serious manifestation of cystinosis leading to end-
Yashwanth Raj Thiagarajan +3 more
doaj +1 more source
Genome-Wide Association Scan for Diabetic Nephropathy Susceptibility Genes in Type 1 Diabetes [PDF]
, 2011 OBJECTIVE—Despite extensive evidence for genetic susceptibility to diabetic nephropathy, the identification of susceptibility genes and their variants has had limited success.
Barati, Michelle T. +28 more
core +1 more source
CTNS mutations in publicly-available human cystinosis cell lines
Molecular Genetics and Metabolism Reports, 2015 Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information.
Artem Zykovich +3 more
doaj +1 more source
Progress in clinical and biological research, 1976 This paper about cystinosis is focused primarily on nosology and genetic heterogeneity, the recurrent themes of these conferences. It briefly discusses cystinosis in relation to other disorders which cause the renal Fanconi syndrome with or without glomerular insufficiency, points out the methods for its reliable diagnosis, and then summarizes evidence
openaire +2 more sources
Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]
, 2016 BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I +7 more
core +3 more sources
Cystinosis. A Clinico-pathological Study of Cystinosis in Two Siblings [PDF]
, 1952 R. Brown
openalex +1 more source
Treatment of corneal cystine crystal accumulation in patients with cystinosis
Clinical Ophthalmology, 2014 Fatemeh Shams, Iain Livingstone, Dilys Oladiwura, Kanna Ramaesh Department of Ophthalmology, Gartnavel General Hospital, Glasgow, Scotland Abstract: Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within ...
Shams F +3 more
doaj
The Effect of a Continuous Intravenous Infusion of Inorganic Phosphate on the Rachitic Lesions in Cystinosis [PDF]
, 1961 R Steendijk
openalex +1 more source