Results 101 to 110 of about 6,103 (223)
SULFUR METABOLISM IN CYSTINURIA 1 [PDF]
, 1935 James C. Andrews, Alexander Randall
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A Dynamic Chemical Network for Cystinuria Diagnosis.
Angewandte Chemie, 2018 The study of molecular networks represents a conceptual revolution in chemistry. Building on previous knowledge and after understanding the rules of non-covalent interactions, the design of stimulus-responsive chemical systems is possible.
María J. Lafuente +2 more
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α-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria
Nature Network Boston, 2017 Cystinuria is an incompletely dominant disorder characterized by defective urinary cystine reabsorption that results in the formation of cystine-based urinary stones.
Tiffany Zee +18 more
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Research and Reports in Urology, 2023 Thomas Hughes,1 Lazaros Tzelves,2 Bhaskar K Somani3 1Department of Urology, Warwick Hospital, Warwick, UK; 2Department of Urology, Sismanogleio Hospital, National and Kapodistrian University of Athens, Athens, Greece; 3Department of Urology, University ...
Hughes T, Tzelves L, Somani BK
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Chromosomal Microdeletions and Genes\u27 Functions: A Cluster of Chromosomal Microdeletions and the Deleted Genes\u27 Functions [PDF]
, 2007 Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. Patients present with generalized hypotonia at birth, failure to thrive, growth retardation and cystinuria type I.
Heulens, Inge +3 more
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Stature and Nutrition in Cystinuria and Hartnup Disease [PDF]
, 1963 J. E. Colliss, A J Levi, M. D. Milne
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The Effects of Various Therapeutics on Cystine Stone Formation [PDF]
, 2017 Cystinuria is an autosomal recessive genetic disorder characterized by the defect of a renal transporter involved in cystine reabsorption. When this transporter is deficient, cystine cannot be broken down and reabsorbed by the body and is excreted via ...
Yang, See
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Genetic and clinical analysis of Chinese pediatric patients with cystinuria
Urolithiasis, 2022 R. Zhan +4 more
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Cystinuria: biochemical evidence for three genetically distinct diseases. [PDF]
, 1966 Leah Rosenberg +3 more
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