[Infantile cystinosis. Description of 3 cases].
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Child, Preschool↗
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[Physiopathological considerations on the limits of detection of certain metabolic syndromes of the cystinuria-cystinosis type. Possibilities of rapid diagnosis].
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Amino Acid Metabolism, Inborn Errors↗
Infantile cystinosis: a reappraisal of early and late symptoms.
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Adolescent↗
[Metabolic errors of the cystinuria-lysinuria, cystinosis type detected in the newborn infant and child with renal and ocular diseases].
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Adolescent↗
[Cystinosis--symptoms, etiology and prenatal diagnosis].
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Child↗
[Renal transplantation in cystinosis. Report of a case].
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Child↗
HLA types and the clinical course of cystinosis.
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Cystinosis↗
[Urinary prostaglandins and effect of indomethacin therapy in cystinosis].
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Child↗
[Pediatric cystinosis: an experience with indomethacin therapy for nearly 4 years].
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Child, Preschool↗
Cystinosis in non-caucasian children.
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Child↗
[Treatment of rickets caused by infantile cystinosis using 1 alpha-hydroxyvitamin D].
Two unrelated girls presented with cystinotic rickets: bone lesions were severe in the first case despite high vitamin D intake, and moderate but significant in the second patient who received physiologic vitamin D prophylaxis since early life. At 56 and 13 months respectively, both patients were given 1 alpha hydroxyvitamin D, 0.5 to 1 microgram/d, with good to excellent results. These data suggest that: 1. Cystinotic bone lesions are to some extent dependent on renal 1 alpha hydroxylase deficiency; 2. 1 alpha OHD thus appears as an effective and appropriate therapy.
Child, Preschool↗
[Kidney changes in infantile and adolescent (nephropathic) cystinosis].
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Adolescent↗
[Nephropathy caused by cystinosis with secondary Bartter's syndrome. Personal experience in a case treated with prolonged diet therapy and acetylsalicylic acid therapy].
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Aspirin↗
[Infantile nephrotic cystinosis].
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Acidosis, Renal Tubular↗
A patient with cystinosis presenting with the features of Bartter syndrome.
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Bartter Syndrome↗
[Cystinosis in adolescence - clinical and histopathological study].
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Adolescent↗
[Ergothioneine and reduced ergothioneine/glutathione (GSH) ratio in erythrocytes of patients with cystinosis and in heterozygotes].
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Animals↗