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Management of bone disease in cystinosis: Statement from an international conference
Journal of Inherited Metabolic Disease, 2019 Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized ...
Fernando Santos +2 more
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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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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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