Results 21 to 30 of about 575 (134)
Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients [PDF]
Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 183-191, March 2022., 2021 Abstract Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disease caused by biallelic mutations in the cystinosin gene, leading to cystine accumulation in various organs. The aim of this cross‐sectional study was to investigate neuromuscular complications in a cohort of 55 patients (aged 2.8‐41.3 years, median 18.5 years) with INC ...
Katharina Vill +10 more
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Infantile nephropathic cystinosis [PDF]
Kidney International, 2007 CASE PRESENTATION A Caucasian girl, the product of a non-consanguineous union, was delivered after a full-term uneventful pregnancy with a birth weight of 4.1 kg. At 15 months, she presented to the emergency room with signs of a respiratory illness and was found to weigh 6.14 kg, below the 3rd percentile for age.
Michael B. Stokes +2 more
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Saudi Journal of Kidney Diseases and Transplantation, 2016 Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj +2 more sources
Behavioral profiles of children with infantile nephropathic cystinosis [PDF]
Developmental Medicine & Child Neurology, 2005 Children with infantile nephropathic cystinosis have evidence of visuospatial and arithmetic deficits on a background of normal intellectual and verbal skills. This study aimed to define further their behavioral phenotype. The Achenbach Child Behavior Checklist was completed by parents of: 64 children and adolescents with cystinosis (33 females, 31 ...
Gustavo Delgado +4 more
openalex +3 more sources
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study [PDF]
Journal of Inherited Metabolic Disease, 2022 AbstractInfantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs). Cysteamine postpones the onset of end‐stage kidney disease (ESKD) and reduces the incidence of ERCs; however, cysteamine is generally ...
Koenraad Veys +19 more
openalex +9 more sources
Kurdistan Journal of Applied Research, 2018 Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms.
Hunar Jamal Hussein +2 more
doaj +3 more sources
Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region [PDF]
ChildrenCystinosis is a rare systemic disease characterized by the accumulation of cystine in tissues, leading to multi-organ damage. Infantile nephropathic cystinosis is the dominant and severe form of cystinosis with critical renal manifestations that require ...
Hassan Aleid +9 more
doaj +2 more sources
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
Frontiers in Pediatrics, 2018 Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body ...
Lutz T Weber, Weber Lutz T
exaly +3 more sources
Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis. [PDF]
Mol Genet Metab, 2022 Nießl C +31 more
europepmc +2 more sources