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Visuomotor Performance in Children with Infantile Nephropathy Cystinosis
Perceptual and Motor Skills, 1996Infantile nephropathy cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in various organs, including the kidney, cornea, thyroid, and brain. Despite normal intellect, individuals with cystinosis may have specific impairments in the processing of visual information.
K M, Scarvie +2 more
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British Journal of Urology, 1998 Infantile nephropathic cystinosis presenting as incomplete fanconi syndrome and refractory rickets
The Indian Journal of Pediatrics, 1989Hernia around the umbilicus is common in this part of the world. Most are supraumbilical hernias and are usually symptomlcss. In a previous study it was found that most parents would not want surgical repair. Cosmetic desire is most frequcnt indication for surgery in the uncomplicated hernias.
V S, Rajadurai +5 more
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Early-onset chronic renal failure as a presentation of infantile nephropathic cystinosis
Pediatric Nephrology, 1995We report an 18-month-old girl who presented in chronic renal failure after an illness characterised by protracted diarrhoea, poor weight gain and anaemia. There were no symptoms and signs suggestive of a renal Fanconi syndrome, but a diagnosis of nephropathic cystinosis was suggested by renal biopsy and confirmed by an elevated leucocyte cystine ...
W G, van't Hoff +3 more
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Cornea, 2002
As a result of successful renal transplantation, patients with nephropathic cystinosis are now living into adulthood. As these patients age, anterior segment ocular complications, other than deposition of corneal crystals, become more evident. With our experience with 172 patients followed up at the National Institutes of Health between 1976 and 2000 ...
Ekaterini T, Tsilou +5 more
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As a result of successful renal transplantation, patients with nephropathic cystinosis are now living into adulthood. As these patients age, anterior segment ocular complications, other than deposition of corneal crystals, become more evident. With our experience with 172 patients followed up at the National Institutes of Health between 1976 and 2000 ...
Ekaterini T, Tsilou +5 more
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The Importance of the Early Diagnosis of Infantile Nephropathic Cystinosis: A Case Report
Klinische Pädiatrie, 2020Emine, Polat +2 more
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