Results 121 to 130 of about 7,413 (226)
Visuomotor Performance in Children with Infantile Nephropathy Cystinosis
, 1996 Infantile nephropathy cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in various organs, including the kidney, cornea, thyroid, and brain.
Kathleen M. Scarvie +2 more
core +1 more source
European Journal of Translational MyologyCystinosis myopathy develops in cystinosis patients with CTNS mutations as the disease progresses despite cysteamine therapy or kidney transplantation. It presents as muscle weakness in distal, swallowing and respiratory muscles1. Muscle biopsy typically
Interuniversity Institute of Myology
doaj
Altered mTOR signalling in nephropathic cystinosis
, 2016 Lysosomes play a central role in regulating autophagy via activation of mammalian target of rapamycin complex 1 (mTORC1). We examined mTORC1 signalling in the lysosomal storage disease nephropathic cystinosis (MIM 219800), in which accumulation of ...
Pastore, Anna +8 more
core +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
Cystinosis in Emerging Adulthood
, 2013 Purpose: Medical advances have allowed for the transmutation of cystinosis, a rare disease, from fatal in childhood, to chronic and manageable into adulthood.
Doyle, Maya Helene
core
The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis
, 2017 Background and objectives Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis gene mutations have been ...
Fatih Ozaltin +54 more
core +1 more source
Mood and illness experiences of adults with cystinosis
, 2015 BACKGROUND: Cystinosis is an autosomal recessive disorder with an estimated incidence of 1/100,000-200,000 live births. The main complications are renal disease, visual impairment, endocrine abnormalities and growth retardation.OBJECTIVE: Our aim was to ...
Weinman, John +5 more
core +1 more source
First Successful Conception Induced by a Male Cystinosis Patient
, 2018 Cystinosis is a rare autosomal recessive lysosomal storage disease characterized by multi-organ cystine accumulation, leading to renal failure and extra-renal organ dysfunction.
Veys, Koenraad +8 more
core +1 more source