Results 131 to 140 of about 1,618 (169)
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Infantile nephropathic cystinosis: Clinical features and outcome
Asian Journal of Pediatric Nephrology, 2020Background: Nephropathic infantile cystinosis, the most common cause of renal Fanconi syndrome, presents in early infancy with impaired growth, polyuria and polydipsia, and progresses to end stage renal disease during the first decade. Diagnosis is based
S. Raut +7 more
semanticscholar +2 more sources
Nephropathic infantile cystinosis in an 8-year-old girl: First case report from Bangladesh
Paediatric Nephrology Journal of Bangladesh, 2021Nephropathic infantile cystinosis is a rare congenital metabolic disorder with an autosomal recessive penetrance in the family, which causes the accumulation of cystine in the lysosomes of different organs of the body.
Mohamed Abdul Qader +3 more
semanticscholar +2 more sources
The Importance of the Early Diagnosis of Infantile Nephropathic Cystinosis: A Case Report
Klinische Pädiatrie, 2020Cystinosis is a rare autosomal recessive lyso somal storage disease characterized by de fective transport of the aminoacid cystine across the lysosomal membrane leading to lysosomal accumulation of cystine in many organs, mainly kidneys and eyes ...
E. Polat, E. Torun, Bilge Akkaya
semanticscholar +3 more sources
Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis
Pediatric Nephrology, 2022Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African population. Here, we investigated twelve patients with nephropathic cystinosis belonging to eight Tunisian families
M. El Younsi +9 more
semanticscholar +3 more sources
Ocular Complications of Infantile Nephropathic Cystinosis
The Journal of Pediatrics, 2017R. Bishop
semanticscholar +3 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 ...
G. Delgado +4 more
semanticscholar +3 more sources
Ocular manifestations and multimodal imaging in infantile nephropathic cystinosis.
QJM: An International Journal of MedicineS. Waghamare +3 more
semanticscholar +2 more sources
Academic achievement in individuals with infantile nephropathic cystinosis.
American Journal of Medical Genetics, 1997The present study examined academic skills in children and young adults with infantile nephropathic cystinosis. Cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in various tissues and organs, including the kidney, cornea, thyroid, and brain.
Angela O. Ballantyne +2 more
semanticscholar +3 more sources
The Molecular Basis of Dutch Infantile Nephropathic Cystinosis
Nephron, 2001Infantile nephropathic cystinosis, an inborn error of metabolism with an autosomal recessive inheritance pattern, is characterized by lysosomal storage of the amino acid cystine due to an impaired transport of cystine out of the lysosomes. Initial clinical features consist of the renal Fanconi syndrome and crystals in the cornea.
Heil, S.G. +5 more
openaire +4 more sources
Nephropathic Infantile Form of Cystinosis About One Case
Fetal and Pediatric Pathology, 2012Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with a failure to thrive and with signs of renal proximal tubular damage. This is a study of a case report of cystinosis revealed by a growth failure and chronic dehydration.
Lamia, Sfaihi +4 more
openaire +2 more sources