Results 111 to 120 of about 3,487 (162)
Genetic kidney diseases - from discovery to precision care. [PDF]
Med GenetSimons M, Hoefele J.
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Hypophosphatemic rickets: diagnosis and treatment. [PDF]
Arch Endocrinol MetabBruneau H, Bergwitz C.
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An Extremely Low-Birth-Weight Infant With Bone Fragility Due to Fanconi Syndrome. [PDF]
Kidney MedYoshida R +7 more
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Journal of the American Medical Association, 1957
• In contrast to the disease in children, which is usually fatal, cystinosis (deposits of cystine crystals in tissues of the body) in the two reported instances occurring in adults was a relatively benign condition. This condition, sometimes called Lignac-Fanconi syndrome, should not be confused with benign cystinuria of adults, in which the cystine ...
D G, COGAN +4 more
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• In contrast to the disease in children, which is usually fatal, cystinosis (deposits of cystine crystals in tissues of the body) in the two reported instances occurring in adults was a relatively benign condition. This condition, sometimes called Lignac-Fanconi syndrome, should not be confused with benign cystinuria of adults, in which the cystine ...
D G, COGAN +4 more
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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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American Journal of Roentgenology, 1977
It has recently been shown that hypothyroidism complicates cystinosis. The radiographic bone changes of hypothyroidism (retarded skeletal age) cannot be detected while the patient has overt rickets, since the secondary ossification centers are not ossified.
M, Grünebaum, R L, Lebowitz
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It has recently been shown that hypothyroidism complicates cystinosis. The radiographic bone changes of hypothyroidism (retarded skeletal age) cannot be detected while the patient has overt rickets, since the secondary ossification centers are not ossified.
M, Grünebaum, R L, Lebowitz
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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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New England Journal of Medicine, 1985
Cystinosis is a recessively inherited disorder characterized by an accumulation of free cystine within lysosomes.
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Cystinosis is a recessively inherited disorder characterized by an accumulation of free cystine within lysosomes.
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PRENTAL DIAGNOSIS OF CYSTINOSIS
Obstetrical & Gynecological Survey, 1974Abstract We diagnosed cystinosis in an 18-week-old fetus on the basis of an increased content of nonprotein cystine in cultured amniotic-fluid cells.
J A, Schneider +9 more
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