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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
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- Publication type:
- Article
A Summary of Current Guidelines and Future Directions for Medical Management and Monitoring of Patients with Cystinuria.
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- Healthcare (2227-9032), 2023, v. 11, n. 5, p. 674, doi. 10.3390/healthcare11050674
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- Publication type:
- Article
Evaluation of Children with Cystine Stones: A single-Center Experience.
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- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2022, v. 16, n. 1, p. 5, doi. 10.12956/tchd.830509
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- Publication type:
- Article
Laterality of nephrocalcinosis in kidney stone formers with severe hypocitraturia.
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- BJU International, 2011, v. 107, n. 1, p. 106, doi. 10.1111/j.1464-410X.2010.09492.x
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- Publication type:
- Article
Laparoscopic vs open living donor nephrectomy: a contemporary series from one centre.
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- BJU International, 2006, v. 98, n. 1, p. 133, doi. 10.1111/j.1464-410X.2006.06265.x
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- Publication type:
- Article
Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis.
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- BJU International, 2006, v. 97, n. 6, p. 1285, doi. 10.1111/j.1464-410X.2006.06169.x
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- Publication type:
- Article
Nephrotic syndrome occurring during tiopronin treatment for cystinuria.
- Published in:
- 2011
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- Publication type:
- journal article
Penicillamine Revisited: Historic Overview and Review of the Clinical Uses and Cutaneous Adverse Effects.
- Published in:
- American Journal of Clinical Dermatology, 2013, v. 14, n. 3, p. 223, doi. 10.1007/s40257-013-0022-z
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- Publication type:
- Article
Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 6, p. 632, doi. 10.1111/cge.13079
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- Article
Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 1, p. 47, doi. 10.1111/j.1399-0004.2011.01638.x
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- Article
Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.
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- 2007
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- Publication type:
- Letter
Identification of novelSLC3A1gene mutations in Spanish cystinuria families and association with clinical phenotypes.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 3, p. 240, doi. 10.1111/j.1399-0004.2004.00393.x
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- 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
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- Publication type:
- Article
Cystinuria-transitory recovery: is it possible?
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- NDT Plus, 2008, v. 1, n. 6, p. 461, doi. 10.1093/ndtplus/sfn134
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- 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
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- Publication type:
- Article
Cystinuria: an inborn cause of urolithiasis.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 19, doi. 10.1186/1750-1172-7-19
- Publication type:
- Article
Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.
- Published in:
- Journal of Genetics, 2011, v. 90, n. 1, p. 157, doi. 10.1007/s12041-011-0045-2
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- Publication type:
- Article
Pseudoxanthoma elasticum-like skin changes induced by pecnicillamine.
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- Journal of the Royal Society of Medicine, 1984, v. 77, n. 9, p. 794, doi. 10.1177/014107688407700917
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- Publication type:
- Article
Cystinuria in a group of children in Iraq.
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- Iraqi Journal of Medical Sciences, 2009, v. 7, n. 2, p. 26
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- Publication type:
- Article
Expression of heteromeric amino acid transporters along the murine intestine.
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- Journal of Physiology, 2004, v. 558, n. 2, p. 597, doi. 10.1113/jphysiol.2004.065037
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- Publication type:
- Article
Clinical and histological spectrum of elastotic changes induced by penicillamine.
- Published in:
- Australasian Journal of Dermatology, 2002, v. 43, n. 2, p. 147, doi. 10.1046/j.1440-0960.2002.00580.x
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- Publication type:
- Article
Cystinuria and Dermatomyositis.
- Published in:
- Clinical Pediatrics, 1970, v. 9, n. 12, p. 727, doi. 10.1177/000992287000901215
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- Publication type:
- Article
Penicillamine: Twenty-Five Years Later.
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- Annals of Internal Medicine, 1980, v. 93, n. 2, p. 367, doi. 10.7326/0003-4819-93-2-367
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- Publication type:
- Article
Miscellanea.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2008, v. 46, p. S429, doi. 10.1515/CCLM.2008.417
- Publication type:
- Article
Feline Cystinuria Caused by a Missense Mutation in the SLC3A1 Gene.
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- Journal of Veterinary Internal Medicine, 2015, v. 29, n. 1, p. 120, doi. 10.1111/jvim.12501
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- Publication type:
- Article
SLC3A1 and SLC7A9 Mutations in Autosomal Recessive or Dominant Canine Cystinuria: A New Classification System.
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- Journal of Veterinary Internal Medicine, 2013, v. 27, n. 6, p. 1400, doi. 10.1111/jvim.12176
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- Publication type:
- Article
Can prenatal renal pelvicalyceal echogenic foci support the diagnosis of cystinuria?
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- Journal of the Turkish-German Gynecological Association, 2022, v. 23, n. 4, p. 327, doi. 10.4274/jtgga.galenos.2022.2021-11-5
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- Publication type:
- Article
Cystinuria.
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- 2022
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- 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
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- Publication type:
- Article
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b<sup>o,+</sup>AT) of rBAT.
- Published in:
- Nature Genetics, 1999, v. 23, n. 1, p. 52
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- Publication type:
- Article
Cystinuria: an update.
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- Journal of the Royal Society of Medicine, 1998, v. 91, n. 4, p. 220, doi. 10.1177/014107689809100415
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- Publication type:
- Article
Cystinuria in a 13-Month-Old Girl with Absence of Mutations in the SLC3A1 and SLC7A9 Genes.
- Published in:
- Indian Journal of Nephrology, 2018, v. 28, n. 6, p. 490, doi. 10.4103/ijn.IJN_46_18
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- Publication type:
- Article
Cystinuria in a 13-month-old Girl with Absence of Mutations in the SLC3A1 and SLC7A9 Genes.
- Published in:
- Indian Journal of Nephrology, 2018, v. 28, n. 1, p. 84, doi. 10.4103/ijn.IJN_20_17
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- Publication type:
- Article
Delineation of cystinuria in Saudi Arabia: A case series.
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- 2017
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- Publication type:
- journal article
Elastosis perforans serpiginosa and pseudoxanthoma elasticum-like skin changes due to D-penicillamine.
- Published in:
- Clinical & Experimental Dermatology, 1985, v. 10, n. 4, p. 386, doi. 10.1111/j.1365-2230.1985.tb00588.x
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- Publication type:
- Article
Antenatal Hyperechogenic Colon and Cystinuria.
- Published in:
- Clinical Pediatrics, 2023, v. 62, n. 6, p. 548, doi. 10.1177/00099228221140802
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- Publication type:
- Article
Homocystinuria Due to Cystathionine Synthase Deficiency.
- Published in:
- Annals of Internal Medicine, 1965, v. 63, n. 6, p. 1117, doi. 10.7326/0003-4819-63-6-1117
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- Article
Cystinuria.
- Published in:
- Annals of Internal Medicine, 1965, v. 62, n. 4, p. 796
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- Publication type:
- Article
Disorders of Amino Acid Transport.
- Published in:
- Annals of Internal Medicine, 1965, v. 62, n. 4, p. 847, doi. 10.7326/0003-4819-62-4-847
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- Publication type:
- Article
Digenic Inheritance in Cystinuria Mouse Model.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0137277
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- Publication type:
- Article
An Animal Model of Type A Cystinuria Due to Spontaneous Mutation in 129S2/SvPasCrl Mice.
- Published in:
- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102700
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- Publication type:
- Article
Deletion of <i>Prepl</i> Causes Growth Impairment and Hypotonia in Mice.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089160
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- 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
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- Publication type:
- Article
Causality between myopathic hypotonia-cystinuria syndrome (HCS) and noncompaction (LVHT) is not compelling.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
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
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- Publication type:
- Article
Comparison of renal function and metabolic abnormalities of cystine stone patients and calcium oxalate stone patients in China.
- Published in:
- World Journal of Urology, 2013, v. 31, n. 5, p. 1219, doi. 10.1007/s00345-012-0886-1
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- Publication type:
- Article
Cystinuria: the South Indian experience.
- Published in:
- Urological Research, 2009, v. 37, n. 6, p. 341, doi. 10.1007/s00240-009-0217-1
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- Publication type:
- Article
Evaluation of cystine transport in cultured human kidney cells and establishment of cystinuria type I phenotype by antisense technology.
- Published in:
- Urological Research, 2008, v. 36, n. 1, p. 25, doi. 10.1007/s00240-007-0127-z
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- Publication type:
- Article
The impact of new technology in the treatment of cystine stones.
- Published in:
- Urological Research, 2007, v. 35, n. 3, p. 129, doi. 10.1007/s00240-007-0089-1
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- Publication type:
- Article