Results 201 to 210 of about 7,764 (252)
Let Food Be Thy Medicine: Potential of Dietary Management in Cystinosis.
J Am Soc NephrolLevtchenko E, Arcolino FO.
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Journal of Inherited Metabolic Disease, 1995
SummaryNephropathic cystinosis is an autosomal recessive inborn error of metabolism characterized by the lysosomal storage of the disulphide amino acid cystine. It produces a variety of clinical manifestations including failure to thrive, the renal Fanconi syndrome, eye findings, and end‐stage renal disease.
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SummaryNephropathic cystinosis is an autosomal recessive inborn error of metabolism characterized by the lysosomal storage of the disulphide amino acid cystine. It produces a variety of clinical manifestations including failure to thrive, the renal Fanconi syndrome, eye findings, and end‐stage renal disease.
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2018
Cystinosis is a rare autosomal recessive disease caused by mutations in the lysosomal cystine transporter cystinosin encoded by the CTNS gene (17p.13.2). Cystinosis is characterized by lysosomal cystine accumulation throughout the body with renal Fanconi syndrome being the most common presenting symptom of a multisystem disorder.
Elena N. Levtchenko, Mirian C. Janssen
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Cystinosis is a rare autosomal recessive disease caused by mutations in the lysosomal cystine transporter cystinosin encoded by the CTNS gene (17p.13.2). Cystinosis is characterized by lysosomal cystine accumulation throughout the body with renal Fanconi syndrome being the most common presenting symptom of a multisystem disorder.
Elena N. Levtchenko, Mirian C. Janssen
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Nihon rinsho. Japanese journal of clinical medicine, 1992
Recent progress of the study of the pathogenesis, diagnosis, and treatment of a lysosomal transport disorder, cystinosis is reviewed. Cystinosis is an autosomal recessively inherited disease that is caused by the accumulation of cystine in lysosome due to lack of the cystine transport system in lysosome.
H, Watanabe, S, Kamoshita
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Recent progress of the study of the pathogenesis, diagnosis, and treatment of a lysosomal transport disorder, cystinosis is reviewed. Cystinosis is an autosomal recessively inherited disease that is caused by the accumulation of cystine in lysosome due to lack of the cystine transport system in lysosome.
H, Watanabe, S, Kamoshita
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