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Citations to this article

Biochemical and genetic studies in cystinuria: observations on double heterozygotes of genotype I/II
Claude L. Morin, … , Sanford H. Jackson, Andrew Sass-Kortsak
Claude L. Morin, … , Sanford H. Jackson, Andrew Sass-Kortsak
Published September 1, 1971
Citation Information: J Clin Invest. 1971;50(9):1961-1976. https://doi.org/10.1172/JCI106688.
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Research Article Article has an altmetric score of 3

Biochemical and genetic studies in cystinuria: observations on double heterozygotes of genotype I/II

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Abstract

10 families with cystinuria were investigated by measuring: (a) quantitative 24 hr urinary excretion of amino acids by column chromatography; (b) endogenous renal clearances of amino acids and creatinine; (c) intestinal uptake of 34C-labeled L-cystine, L-lysine, and L-arginine using jejunal mucosal biopsies; (d) oral cystine loading tests. All four of these were studied in the probands and the first two in a large number of the family members.

Authors

Claude L. Morin, Margaret W. Thompson, Sanford H. Jackson, Andrew Sass-Kortsak

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Total citations by year

Year: 2023 2017 2015 2014 2013 2012 2009 2008 2004 1999 1998 1995 1993 1992 1989 1988 1985 1984 1983 1982 1981 1980 1979 1978 1977 1976 1975 1974 1973 Total
Citations: 1 1 1 1 1 1 1 2 1 2 1 1 1 1 1 2 1 2 1 1 4 1 1 2 1 1 4 1 1 40
Citation information
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Citations to this article (40)

Title and authors Publication Year
The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9(-/-) mouse model of cystinuria.
Mayayo-Vallverdú C, López de Heredia M, Prat E, González L, Espino Guarch M, Vilches C, Muñoz L, Asensi MA, Serra C, Llebaria A, Casado M, Artuch R, Garrabou G, Garcia-Roves PM, Pallardó FV, Nunes V
Redox Biology 2023
Environmental cystine drives glutamine anaplerosis and sensitizes cancer cells to glutaminase inhibition
A Muir, LV Danai, DY Gui, CY Waingarten, CA Lewis, MG Heiden
eLife 2017
Pediatric Nephrology
ED Avner, WE Harmon, P Niaudet, N Yoshikawa, F Emma, S Goldstein
Pediatric Nephrology 2015
Comprehensive Physiology
SN Cheuvront, RW Kenefick
Comprehensive Physiology 2014
Pathologie
M Stolte, J Rüschoff, G Klöppel
Der Pathologe 2013
Brenner and Rector's The Kidney
C Brugnara, KU Eckardt
Brenner and Rector's The Kidney 2012
Genetic Diseases of the Kidney
K Ichida, M Hosoyamada, T Hosoya, H Endou
Genetic Diseases of the Kidney 2009
Novartis Foundation Symposia
EJ Campbell
Ciba Foundation Symposium 44 - Research and Medical Practice: Their Interaction 2008
Cystinuria
A Mattoo, DS Goldfarb
Seminars in Nephrology 2008
Lysinuric protein intolerance: mechanisms of pathophysiology
M Palacı́n, J Bertran, J Chillarón, R Estévez, A Zorzano
Molecular Genetics and Metabolism 2004
Reference values of urinary excretion of cystine and dibasic aminoacids: classification of patients with cystinuria in the Valencian Community, Spain
M Guillén, D Corella, ML Cabello, AM García, J Hernández-Yago
Clinical Biochemistry 1999
Pilot screening programme for cystinuria in the Valencian community
M L Cabello-Tomás, A M García-Gómez, M L Guillén-Domínguez
European Journal of Epidemiology 1999
Molecular Biology of Mammalian Plasma Membrane Amino Acid Transporters
M Palacín, R Estévez, J Bertran, A Zorzano
Physiological reviews 1998
Etiology and management of cystine lithiasis
M Gupta, DM Bolton, ML Stoller
Urology 1995
Decreased uptake of L-cystine by duodenal brush border membrane vesicles from patients with cystinuria
TJ Furlong, D Stiel
Australian and New Zealand Journal of Medicine 1993
Balanced translocation (14;20) in a mentally handicapped child with cystinuria
M Sharland, M Jones, M Bain, R Chalmers, J Hammond, MA Patton
Journal of medical genetics 1992
Inheritance of Kidney and Urinary Tract Diseases
A Spitzer, ED Avner
1989
Cystinuria
RD Feld, ZK Shihabi
Critical Reviews in Clinical Laboratory Sciences 1988
Long-Term Followup in Patients with Cystine Urinary Calculi Treated by Percutaneous Ultrasonic Lithotripsy
LD Knoll, JW Segura, DE Patterson, AJ Leroy, LH Smith
The Journal of Urology 1988
Ontogeny modifies manifestations of cystinuria genes: Implications for counseling
CR Scriver, CL Clow, TM Reade, P Goodyer, C Auray-Blais, R Giguère, B Lemieux
The Journal of Pediatrics 1985
Renal tubule reabsorption of amino acids after lysine loading of cystinuric dogs
KC Bovee, S Segal
Metabolism 1984
Transport ofl-cystine in isolated perfused proximal straight tubules
JA Schafer, ML Watkins
Pflügers Archiv - European Journal of Physiology 1984
Dünndarm A
F Bazzoli, R Böhmer, WF Caspary, H Dombrowski, B Eckhardt, B Elsenhans, A Encke, A Ferguson, W Forth, H Fromm, A Gangl, S Gutschmidt, U Hopfer, GJ Kreijs, B Lembcke, KH zum Büschenfelde, G Mödder, G Nell, HF Otto, H Peerenboom, G Rehner, G Rettenmaier, EO Riecken, JW Robinson, K Rommel, H Ruppin, J Seifert, KH Soergel, S Strobel, L Vollrath, R Wanitschke, HJ Weis
1983
Renal transport of lysine and arginine in lysinuric protein intolerance
T Kato, N Mizutani, M Ban
European Journal of Pediatrics 1982
Cystinuria: The disease and its models
AG Craan
Life Sciences 1981
Transport and Inherited Disease
NR Belton, C Toothill
1981
The role of glutathione turnover in the apparent renal secretion of cystine
OW Griffith
The Journal of biological chemistry 1981
Cystine crystalluria and urinary saturation in cystine and non-cystine stone formers
M Labeeuw, C Gerbaulet, N Pozet, P Zech, J Traeger
Urological Research 1981
Transport interactions of cystine and dibasic amino acids in isolated rat renal tubules
JW Foreman, SM Hwang, S Segal
Metabolism 1980
Heterozygous Cystinuria and Calcium Oxalate Urolithiasis
MI Resnick, HO Goodman, WH Boyce
The Journal of Urology 1979
Cystinuria genotypes predicted from excretion patterns
S Kelly, CE Scriver
American Journal of Medical Genetics 1978
Familial enteropathy: A syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy
GP Davidson, E Cutz, JR Hamilton, DG Gall
Gastroenterology 1978
Transport Interaction of Cystine and Dibasic Amino Acids in Renal Brush Border Vesicles
S Segal, PD McNamara, LM Pepe
Science 1977
Small bowel mucosal dysfunction in patients with cystic fibrosis
CL Morin, CC Roy, R Lasalle, A Bonin
The Journal of Pediatrics 1976
Lysinuric protein intolerance
O Simell, J Perheentupa, J Rapola, JK Visakorpi, LE Eskelin
The American Journal of Medicine 1975
A study of the renal handling and intestinal absorption of dibasic amino acids in a patient with genotype +/11 heterozygous cystinuria and idiopathic hypercalcuria
DB Silk, D Perrett, ML Clark, AD Stephens, EF Scowen
Clinica Chimica Acta 1975
The Role of Cyclic Nucleotides in Central Synaptic Function / Renal Transport of Amino Acids
FE Bloom, S Silbernagl, EC Foulkes, P Deetjen
1975
Cystinuric heterozygotes and cystine-loading
R Minami, K Olek, P Wardenbach
Human Genetics 1975
PENICILLAMINE TREATMENT OF CYSTINURIA
M Ekberg, JO Jeppsson, T Denneberg
Acta Medica Scandinavica 1974
A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl
P Jacobsen, M Mikkelsen, F Rosleff
Clinical Genetics 1973

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