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Stones.
- Published in:
- Current Medical Literature: Urology, 2006, v. 12, n. 3, p. 78
- Publication type:
- Article
Stones.
- Published in:
- Current Medical Literature: Urology, 2006, v. 12, n. 1, p. 24
- Publication type:
- Article
Innentitelbild: A Dynamic Chemical Network for Cystinuria Diagnosis (Angew. Chem. 28/2018).
- Published in:
- Angewandte Chemie, 2018, v. 130, n. 28, p. 8466, doi. 10.1002/ange.201804532
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- Publication type:
- Article
A Dynamic Chemical Network for Cystinuria Diagnosis.
- Published in:
- Angewandte Chemie, 2018, v. 130, n. 28, p. 8557, doi. 10.1002/ange.201802189
- By:
- Publication type:
- Article
Genomic and Functional Investigations of Mutations of the SLC3A1 Gene in Cystinuria.
- Published in:
- Urologia Internationalis, 2002, v. 69, n. 3, p. 207, doi. 10.1159/000063940
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- Publication type:
- Article
The Long-Term Outcome of Cystinuria in Japan.
- Published in:
- Urologia Internationalis, 1998, v. 61, n. 2, p. 86, doi. 10.1159/000030294
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- Publication type:
- Article
Novel human pathological mutations.
- Published in:
- Human Genetics, 2007, v. 121, n. 2, p. 287, doi. 10.1007/s00439-006-0321-z
- Publication type:
- Article
Novel human pathological mutations.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 774, doi. 10.1007/s00439-005-0109-6
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- Publication type:
- Article
Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs.
- Published in:
- Human Genetics, 2000, v. 107, n. 4, p. 295, doi. 10.1007/s004390000392
- By:
- Publication type:
- Article
Association between M467T and 114 C→A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.
- Published in:
- Human Genetics, 2000, v. 106, n. 3, p. 314, doi. 10.1007/s004390000251
- By:
- Publication type:
- Article
A Summary of Current Guidelines and Future Directions for Medical Management and Monitoring of Patients with Cystinuria.
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 5, p. 674, doi. 10.3390/healthcare11050674
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- Publication type:
- Article
Pediatric Nephrolithiasis.
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 4, p. 552, doi. 10.3390/healthcare11040552
- By:
- Publication type:
- Article
Spontaneous Perforation of the Small Intestine, a Novel Manifestation of Classical Homocystinuria in an Adult with New Cystathionine β-synthetase Gene Mutations.
- Published in:
- Collegium Antropologicum, 2011, v. 35, n. 1, p. 181
- Publication type:
- Article
Homocystinuria, a Possible Solution of the Akhenaten's Mystery.
- Published in:
- Collegium Antropologicum, 2010, v. 34, p. 255
- By:
- Publication type:
- Article
Contact allergy to d-penicillamine.
- Published in:
- 1990
- By:
- Publication type:
- Case Study
Natural history and quality of life in patients with cystine urolithiasis: a single centre study.
- Published in:
- BJU International, 2015, v. 116, p. 31, doi. 10.1111/bju.13169
- By:
- Publication type:
- Article
The genetic diversity of cystinuria in a UK population of patients.
- Published in:
- BJU International, 2015, v. 116, n. 1, p. 109, doi. 10.1111/bju.12894
- By:
- Publication type:
- Article
Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 5, p. 1513, doi. 10.1007/s00467-022-05732-w
- By:
- Publication type:
- Article
Cystinuria: an update on pathophysiology, genetics, and clinical management.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 8, p. 1705, doi. 10.1007/s00467-021-05342-y
- By:
- Publication type:
- Article
Nephrotic syndrome in a patient with cystinuria: Answers.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Nephrotic syndrome in a patient with cystinuria: Questions.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Educational review: role of the pediatric nephrologists in the work-up and management of kidney stones.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 3, p. 383, doi. 10.1007/s00467-018-4179-9
- By:
- Publication type:
- Article
Switching from immediate- to extended-release cysteamine in nephropathic cystinosis patients: a retrospective real-life single-center study.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 1, p. 91, doi. 10.1007/s00467-016-3438-x
- By:
- Publication type:
- Article
Orphan drug policies and use in pediatric nephrology.
- Published in:
- 2017
- By:
- Publication type:
- Editorial
Synergistic mutations in <i>SLC3A1</i> and <i>SLC7A9</i> leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 1, p. 155, doi. 10.1007/s00467-013-2617-2
- By:
- Publication type:
- Article
Cystinuria: mechanisms and management.
- Published in:
- Pediatric Nephrology, 2012, v. 27, n. 11, p. 2031, doi. 10.1007/s00467-011-2092-6
- By:
- Publication type:
- Article
Clinical presentation and metabolic features of overt and occult urolithiasis.
- Published in:
- Pediatric Nephrology, 2012, v. 27, n. 1, p. 101, doi. 10.1007/s00467-011-1940-8
- By:
- Publication type:
- Article
Hydration and Nephrolithiasis in Pediatric Populations: Specificities and Current Recommendations.
- Published in:
- Nutrients, 2023, v. 15, n. 3, p. 728, doi. 10.3390/nu15030728
- By:
- Publication type:
- Article
The Impact of Diet on Urinary Risk Factors for Cystine Stone Formation.
- Published in:
- Nutrients, 2021, v. 13, n. 2, p. 528, doi. 10.3390/nu13020528
- By:
- Publication type:
- Article
Cystinuria in a patient with polycystic kidney disease.
- Published in:
- NDT Plus, 2009, v. 2, n. 1, p. 30, doi. 10.1093/ndtplus/sfn166
- By:
- Publication type:
- Article
Cystinuria-transitory recovery: is it possible?
- Published in:
- NDT Plus, 2008, v. 1, n. 6, p. 461, doi. 10.1093/ndtplus/sfn134
- By:
- Publication type:
- Article
Diagnostic Significance of Urinary Thiodiglycolic Acid as a Possible Tool for Studying the Role of Vitamins B<sub>12</sub> and Folates in the Metabolism of Thiolic Substances.
- Published in:
- Physiological Research, 2007, v. 56, n. 1, p. 113, doi. 10.33549/physiolres.930902
- By:
- Publication type:
- Article
Homocystinuria due to cystathionine β-synthase deficiency associated with megaloblastic anaemia.
- Published in:
- Journal of Internal Medicine, 2001, v. 250, n. 5, p. 453, doi. 10.1046/j.1365-2796.2001.00811.x
- By:
- Publication type:
- Article
The ancillary proteins of HATs: SLC3 family of amino acid transporters.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2004, v. 447, n. 5, p. 490, doi. 10.1007/s00424-003-1062-7
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- Publication type:
- Article
CATs and HATs: the SLC7 family of amino acid transporters.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2004, v. 447, n. 5, p. 532, doi. 10.1007/s00424-003-1086-z
- By:
- Publication type:
- Article
Collagen and elastin changes in D-penicillamine-induced pseudoxanthoma elasticum-like skin.
- Published in:
- British Journal of Dermatology, 1986, v. 114, n. 3, p. 381, doi. 10.1111/j.1365-2133.1986.tb02832.x
- By:
- Publication type:
- Article
(35) Elastosis perforans serpiginosa after penicillamine for cystrinuria.
- Published in:
- 1983
- By:
- Publication type:
- Case Study
Progressive dermopathy akin to pseudoxanthoma elasticum after D-penicillamine use in a patient with cystinuria.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Clinical utility gene card for: Cystinuria.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 1, doi. 10.1038/ejhg.2011.163
- By:
- Publication type:
- Article
Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1029, doi. 10.1038/sj.ejhg.5201881
- By:
- Publication type:
- Article
Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children.
- Published in:
- Clinical Laboratory, 2018, v. 64, n. 7/8, p. 1145, doi. 10.7754/Clin.Lab.2018.180110
- By:
- Publication type:
- Article
Untargeted metabolomic analysis of urine samples in the diagnosis of some inherited metabolic disorders.
- Published in:
- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2015, v. 159, n. 4, p. 582, doi. 10.5507/bp.2014.048
- By:
- Publication type:
- Article
Cystinuria.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Cystine calculi: challenging group of stones.
- Published in:
- Postgraduate Medical Journal, 2006, v. 82, n. 974, p. 799, doi. 10.1136/pgmj.2005.044156
- By:
- Publication type:
- Article
Cystinuria in a group of children in Iraq.
- Published in:
- Iraqi Journal of Medical Sciences, 2009, v. 7, n. 2, p. 26
- By:
- Publication type:
- Article
Delineation of cystinuria in Saudi Arabia: A case series.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Investigation and management of renal stone disease.
- Published in:
- Nephrology Dialysis Transplantation, 2017, v. 32, n. 12, p. 1984, doi. 10.1093/ndt/gfx306
- By:
- Publication type:
- Article
When to suspect a genetic disorder in a patient with renal stones, and why.
- Published in:
- Nephrology Dialysis Transplantation, 2013, v. 28, n. 4, p. 811, doi. 10.1093/ndt/gfs545
- By:
- Publication type:
- Article
CYSTINE, METHIONINE AND SULPHATE EXCRETION IN CYSTINURIA.
- Published in:
- Australian Journal of Experimental Biology & Medical Science, 1951, v. 29, n. 2, p. 85, doi. 10.1038/icb.1951.11
- By:
- Publication type:
- Article