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Academic achievement in individuals with infantile nephropathic cystinosis

American Journal of Medical Genetics, 1997
The 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.
D A Trauner
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Long-Term Treatment of Infantile Nephropathic Cystinosis with Cysteamine

New England Journal of Medicine, 1985
CYSTINOSIS is a rare autosomal recessive metabolic disorder of children and adults, characterized biochemically by intracellular accumulation of free, nonprotein cystine crystals in the reticuloend...
V A, da Silva, R P, Zurbrügg, P, Lavanchy, A, Blumberg, H, Suter, S R, Wyss, C M, Lüthy, O H, Oetliker   +7 more
exaly   +3 more sources

The Molecular Basis of Dutch Infantile Nephropathic Cystinosis

Nephron, 2001
Infantile 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.
Sandra G. Heil, Elena Levtchenko, L.A.H. Monnens, Frans J.M. Trijbels, N.M.J. van der Put, Henk J. Blom   +5 more
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PSYCHOSOCIAL AND INTELLECTUAL DEVELOPMENT IN 12 PATIENTS WITH INFANTILE NEPHROPATHIC CYSTINOSIS

Acta Paediatrica, International Journal of Paediatrics, 1982
ABSTRACT. The psychosocial and intellectual development of 12 children with infantile nephropathic cystinosis was investigated longitudinally by use of biographical data, long‐term behavioral observations and psychological assessment. Of the 12 patients, eleven suffered terminal renal failure and 7 of these were followed up after renal transplantation.
Jochen H H Ehrich, G Offner, J Brodehl
exaly   +3 more sources

Cholestatic liver disease in long‐term infantile nephropathic cystinosis

Journal of Gastroenterology and Hepatology, 2008
AbstractBackground:  Cystinosis is a metabolic disease characterized by accumulation of cystine in different organs and tissues, leading to potentially life‐threatening organ dysfunction. Infantile cystinosis typically leads to end‐stage renal disease, necessitating renal replacement therapy.
T. Cornelis, Kathleen Claes, Pieter Gillard, Els Nijs, Tania Roskams, Rita Lombaerts, Frederik Nevens, David Cassiman   +7 more
openalex   +3 more sources

Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis

Journal of Pediatrics, 1992
We report the case of a patient with infantile nephropathic cystinosis who required renal transplantation at age 30 months. Exhaustive evaluation did not identify a cause of progressive renal failure other than cystinosis. The patient's genetic lesion was allelic with those of other patients with cystinosis; fusion of this patient's fibroblasts with ...
H William Schnaper, John M Kissane, Samuel K S So   +2 more
exaly   +3 more sources