Testicular function in males with infantile nephropathic cystinosis

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Pituitary-testicular function in nephropathic cystinosis.

OBJECTIVE To evaluate reproductive function in patients with cystinosis and in renal transplant recipients without cystinosis. DESIGN Cross-sectional study. SETTING Clinical Center, National Institutes of Health. PATIENTS Ten male patients, 15 to 28 years old, with nephropathic cystinosis and renal allografts formed the study group; 11 renal transplant recipients who had a primary renal d...

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Infantile nephropathic cystinosis.

INTRODUCTION Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. OBJECTIVE To examine the prevalence and clinical characteristics of INC in paediatric patients with endstage renal disease (ESRD) in Serbia and give a recent statement of the disease. METHODS ESRD database of the Centre for Paediatric ...

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Ocular Complications of Infantile Nephropathic Cystinosis.

Ocular complications are among the most common cause of discomfort and disability in patients with cystinosis, affecting virtually all individuals with nephropathic cystinosis if left untreated. Photophobia results from accumulation of cystine crystals within the corneal tissue. Compliance with recommended therapy can reverse this change, resulting in resolution of symptoms. Other ocular struct...

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Academic achievement in individuals with infantile nephropathic cystinosis.

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. Individuals with cystinosis have normal intelligence but subtle visual processing impairments. Subjects were 19 child...

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Visuomotor performance in children with infantile nephropathic cystinosis.

Infantile nephropathic 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. To examine further the specific types of deficits in visual processing found in individuals w...

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ژورنال

عنوان ژورنال: Human Reproduction

سال: 2021

ISSN: 0268-1161,1460-2350

DOI: 10.1093/humrep/deab030