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Published Work
The Fruits of Our Labor
2019
BMC Nephrol.
CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.
BMC Nephrol. 2019 Oct 31;20(1):400. doi: 10.1186/s12882-019-1589-2.
2019
Pediatr Nephrol.
The European Society for Paediatric Nephrology study of pediatric renal care in Europe: comparative analysis 1998-2017. Pediatr Nephrol. 2020 Jan;35(1):103-111. doi: 10.1007/s00467-019-04378-5. Epub 2019 Oct 29.
2019
Ophthalmol Ther.
Ophthalmic Outcome in a Belgian Cohort of Cystinosis Patients Treated with a Compounded Preparation of Cysteamine Eye Drops: Retrospective Analysis. Ophthalmol Ther. 2019 Dec;8(4):623-633. doi: 10.1007/s40123-019-00216-x. Epub 2019 Sep 27.
2019
BMJ Open
Prevention of relapses with levamisole as adjuvant therapy in children with a first episode of idiopathic nephrotic syndrome: study protocol for a double blind, randomised placebo-controlled trial (the LEARNS study). BMJ Open. 2019 Aug 1;9(8):e027011. doi: 10.1136/bmjopen-2018-027011.
2019
Kidney Int Rep
APOL1 Risk Genotypes Are Associated With Early Kidney Damage in Children in Sub-Saharan Africa. Kidney Int Rep. 2019 Apr 11;4(7):930-938. doi: 10.1016/j.ekir.2019.04.002. eCollection 2019 Jul.
2019
J Am Soc Nephrol
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome. J Am Soc Nephrol. 2019 Aug;30(8):1375-1384. doi: 10.1681/ASN.2018101054. Epub 2019 Jul 1.
2019
J Invest Dermatol
Enhanced Intrinsic Skin Aging in Nephropathic Cystinosis Assessed by High-Definition Optical Coherence Tomography. J Invest Dermatol. 2019 Apr 22. pii: S0022-202X(19)31491-5. doi: 10.1016/j.jid.2019.03.1153. [Epub ahead of print]
2019
Nephron
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair. Nephron. 2019;141(2):133-146. doi: 10.1159/000495270. Epub 2018 Dec 14
2018
Sci Rep
Activation of Calcium-Sensing Receptor increases intracellular calcium and decreases cAMP and mTOR in PKD1 deficient cells. Sci Rep. 2018 Apr 9;8(1):5704. doi: 10.1038/s41598-018-23732-5.
2018
Matrix Biol.
Connective tissue growth factor (CTGF) from basics to clinics. Matrix Biol. 2018 Aug;68-69:44-66. doi: 10.1016/j.matbio.2018.03.007. Epub 2018 Mar 21.
2018
Arch Dis Child Fetal Neonatal Ed.
Ibuprofen exposure in early neonatal life does not affect renal function in young adolescence. Arch Dis Child Fetal Neonatal Ed. 2018 Mar;103(2):F107-F111. doi: 10.1136/archdischild-2017-312922. Epub 2017 Jun 14.
2018
Cells
Genetic Renal Diseases: The Emerging Role of Zebrafish Models. Cells. 2018 Sep 1;7(9). pii: E130. doi: 10.3390/cells7090130.
2018
Eur J Pediatr
Renal Replacement Therapy in children with severe developmental disability: guiding questions for decision-making. Eur J Pediatr. 2018 Dec;177(12):1735-1743. doi: 10.1007/s00431-018-3238-3. Epub 2018 Sep 7.
2018
Am J Transplant.
Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report. Am J Transplant. 2018 Nov;18(11):2823-2828. doi: 10.1111/ajt.15029. Epub 2018 Aug 21.
2018
JIMD Rep
Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops. JIMD Rep. 2018;42:47-51. doi: 10.1007/8904_2017_77. Epub 2017 Dec 7.
2017
Hypertension
Simplified Thresholds for Pediatric (Pre)hypertension: One Approach to Improve Recognition and Outcome. Hypertension. 2017 Apr;69(4):587-588. doi: 10.1161/HYPERTENSIONAHA.116.08883. Epub 2017 Feb 21.
2017
Hypertension
Does Extremely Low Birth Weight Predispose to Low-Renin Hypertension? Hypertension. 2017 Mar;69(3):443-449. doi: 10.1161/HYPERTENSIONAHA.116.08643. Epub 2017 Jan 23.
2017
Ophthalmol Ther
Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis. Ophthalmol Ther. 2017 Jun;6(1):93-104. doi: 10.1007/s40123-017-0089-3. Epub 2017 May 5.
2017
PLoS One
Catch-up growth in the first two years of life in Extremely Low Birth Weight (ELBW) infants is associated with lower body fat in young adolescence. PLoS One. 2017 Mar 9;12(3):e0173349. doi: 10.1371/journal.pone.0173349. eCollection 2017.
2017
Curr Pharm Des
A Human Proximal Tubular Epithelial Cell Model to Explore a Knowledge Gap on Neonatal Drug Disposition. Curr Pharm Des. 2017;23(38):5911-5918. doi: 10.2174/1381612823666171009143146.
2017
PLoS One
Pituitary adenylate cyclase-activating polypeptide (PACAP) in zebrafish models of nephrotic syndrome. PLoS One. 2017 Jul 31;12(7):e0182100. doi: 10.1371/journal.pone.0182100. eCollection 2017.
2016
Sci Rep
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion. Sci Rep. 2016; 6: 35395.
Published online 2016 Oct 13. doi: 10.1038/srep35395
2016
Crit Care Med
Vascular Endothelial Growth Factor Up-regulation in Human Amniotic Fluid Stem Cell Enhances Nephroprotection After Ischemia-Reperfusion Injury in the Rat. Crit Care Med. 2017 Jan;45(1):e86-e96.
2016
N Engl J Med
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27.
2016
Pediatr Nephrol
Platelet abnormalities in nephrotic syndrome. Pediatr Nephrol. 2016 Aug;31(8):1267-79. doi: 10.1007/s00467-015-3173-8. Epub 2015 Aug 13.
2016
Kidney Int
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2016 Jun;89(6):1192-203. doi: 10.1016/j.kint.2016.01.033.
2016
J Am Soc Nephrol
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5.
2016
Nat Cell Biol
Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL. Nat Cell Biol. 2016 Aug;18(8):839-850. doi: 10.1038/ncb3386. Epub 2016 Jul 11.
2015
Pediatr Nephrol
Urinary excretion of polyols and sugars in children with chronic kidney disease. Pediatr Nephrol. 2015 Sep;30(9):1537-40. doi: 10.1007/s00467-015-3135-1. Epub 2015 Jun 9.
2016
Cystinosis: a new perspective. Acta Clin Belg. 2016 Jun;71(3):131-7. doi: 10.1179/2295333714Y.0000000113.
Acta Clin Belg
2015
J Thromb Haemost
Pituitary adenylate cyclase-activating polypeptide deficiency associated with increased platelet count and aggregability in nephrotic syndrome. J Thromb Haemost. 2015 May;13(5):755-67. doi: 10.1111/jth.12891. Epub 2015 Apr 13.
2015
Am J Physiol Renal Physiol
Conditionally immortalized human proximal tubular epithelial cells isolated from the urine of a healthy subject express functional calcium-sensing receptor. Am J Physiol Renal Physiol. 2015 Jun 1;308(11):F1200-6. doi: 10.1152/ajprenal.00352.2014. Epub 2015 Feb 4.
2014
JIMD Rep
Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis. JIMD Rep. 2014;16:25-30. doi: 10.1007/8904_2014_312. Epub 2014 May 6.
2014
Nephrol Dial Transplant
Nephropathic cystinosis: an international consensus document. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv87-94. doi: 10.1093/ndt/gfu090.
2015
PLoS One
Amniotic Fluid Derived Stem Cells with a Renal Progenitor Phenotype Inhibit Interstitial Fibrosis in Renal Ischemia and Reperfusion Injury in Rats. PLoS One. 2015 Aug 21;10(8):e0136145. doi: 10.1371/journal.pone.0136145. eCollection 2015.
2014
J Clin Endocrinol Metab
Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions. J Clin Endocrinol Metab. 2014 Jul;99(7):E1361-7. doi: 10.1210/jc.2014-1123. Epub 2014 Mar 26.
2014
Eur J Hum Genet
Clinical utility gene card for: Dent disease (Dent-1 and Dent-2). Eur J Hum Genet. 2014 Nov;22(11). doi: 10.1038/ejhg.2014.33. Epub 2014 Mar 12.
2014
J Am Soc Nephrol
Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys. J Am Soc Nephrol. 2014 Jun;25(6):1256-69. doi: 10.1681/ASN.2013060598. Epub 2014 Feb 13.
2014
JIMD Rep
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis. JIMD Rep. 2014;14:87-97. doi: 10.1007/8904_2013_288. Epub 2014 Jan 25.
2014
Pediatrics.
An unusual presentation of Denys-Drash syndrome due to bigenic disease. Pediatrics. 2014 Jan;133(1):e252-6. doi: 10.1542/peds.2013-1524. Epub 2013 Dec 30.
2014
Eur J Hum Genet
Clinical utility gene card for: cystinosis. Eur J Hum Genet. 2014 May;22(5). doi: 10.1038/ejhg.2013.204. Epub 2013 Sep 18.
2013
J Pediatr Gastroenterol Nutr
Another cause of hyperglyceroluria: aquaporin 7 gene mutation. J Pediatr Gastroenterol Nutr. 2013 Sep;57(3):e19. doi: 10.1097/MPG.0b013e31829a4ff3.
2013
Proc Natl Acad Sci U S A
Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients. Proc Natl Acad Sci U S A. 2013 Apr 23;110(17):7014-9. doi: 10.1073/pnas.1302063110. Epub 2013 Apr 9.
2013
J Inherit Metab Dis
Increased human dermal microvascular endothelial cell survival induced by cysteamine. J Inherit Metab Dis. 2013 Nov;36(6):1073-7. doi: 10.1007/s10545-013-9588-0. Epub 2013 Jan 31.
2012
PLoS One
Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro. PLoS One. 2012;7(8):e42840. doi: 10.1371/journal.pone.0042840. Epub 2012 Aug 13.
2012
Histochem Cell Biol
Distribution of cystinosin-LKG in human tissues. Histochem Cell Biol. 2012 Aug;138(2):351-63. doi: 10.1007/s00418-012-0958-8. Epub 2012 Apr 29.
2011
EMBO J.
OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin. EMBO J. 2011 Oct 4;30(24):4970-85. doi: 10.1038/emboj.2011.354.
2011
Mol Genet Metab
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening. Mol Genet Metab. 2011 Mar;102(3):339-42. doi: 10.1016/j.ymgme.2010.12.002. Epub 2010 Dec 13.
2011
Clin Chem
Necessity of fractionated urine collection for monitoring patients with cystinuria. Clin Chem. 2011 May;57(5):780-1. doi: 10.1373/clinchem.2010.161547. Epub 2011 Mar 15.
2010
Growth retardation in children with cystinosis. Minerva Pediatr. 2010 Jun;62(3):307-14.
Minerva Pediatr.
2010
Pediatr Nephrol
Analysis of CTNS gene transcripts in nephropathic cystinosis. Pediatr Nephrol. 2010 Jul;25(7):1263-7. doi: 10.1007/s00467-010-1502-5. Epub 2010 Mar 30.
2008
Nephrol Dial Transplant
Evaluation of the proximal tubular function in hereditary renal Fanconi syndrome. Nephrol Dial Transplant. 2008 Sep;23(9):2719-22. doi: 10.1093/ndt/gfn373. Epub 2008 Jul 4.
2008
Clin J Am Soc Nephrol
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol. 2008 Sep;3(5):1430-6. doi: 10.2215/CJN.00520108. Epub 2008 May 14.
2008
Am J Physiol Renal Physiol
Identification and subcellular localization of a new cystinosin isoform. Am J Physiol Renal Physiol. 2008 May;294(5):F1101-8. doi: 10.1152/ajprenal.00413.2007. Epub 2008 Mar 12.
2008
Hum Mutat
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. Hum Mutat. 2008 Apr;29(4):532-6. doi: 10.1002/humu.20685.
2017
JIMD Rep
First Successful Conception Induced by a Male Cystinosis Patient. JIMD Rep. 2018;38:1-6. doi: 10.1007/8904_2017_19. Epub 2017 Apr 13.
2017
Endocrine Complications of Cystinosis. J Pediatr. 2017 Apr;183S:S5-S8. doi: 10.1016/j.jpeds.2016.12.049.
J Pediatr.
2017
Sci Rep
Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction. Sci Rep. 2017 Feb 15;7:42583. doi: 10.1038/srep42583.
2017
Curr Opin Pediatr
Nephropathic cystinosis: an update. Curr Opin Pediatr. 2017 Apr;29(2):168-178. doi: 10.1097/MOP.0000000000000462.
2017
Carbohydr Res
Evaluation of carbohydrate-cysteamine thiazolidines as pro-drugs for the treatment of cystinosis. Carbohydr Res. 2017 Feb 1;439:9-15. doi: 10.1016/j.carres.2016.12.003. Epub 2016 Dec 18.
2017
Br J Clin Pharmacol
Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation. Br J Clin Pharmacol. 2017 Apr;83(4):863-874. doi: 10.1111/bcp.13174. Epub 2016 Dec 13.
2016
Cell Calcium
Ca(2+) signalling in human proximal tubular epithelial cells deficient for cystinosin. Cell Calcium. 2016 Oct;60(4):282-7. doi: 10.1016/j.ceca.2016.07.001. Epub 2016 Jul 5.
2016
Cystinosis: a review. Orphanet J Rare Dis. 2016 Apr 22;11:47. doi: 10.1186/s13023-016-0426-y.
Orphanet J Rare Dis
2016
Kidney Int.
Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility. Kidney Int. 2016 May;89(5):1037-1048. doi: 10.1016/j.kint.2016.01.013. Epub 2016 Mar 11.
2016
Nephron
Distribution and Function of PACAP and Its Receptors in the Healthy and Nephrotic kidney. Nephron. 2016;132(4):301-11. doi: 10.1159/000445035. Epub 2016 Apr 7.
2016
J Am Soc Nephrol.
Urine of Preterm Neonates as a Novel Source of Kidney Progenitor Cells. J Am Soc Nephrol. 2016 Sep;27(9):2762-70. doi: 10.1681/ASN.2015060664. Epub 2016 Mar 3.
2016
J Inherit Metab Dis
Altered mTOR signalling in nephropathic cystinosis. J Inherit Metab Dis. 2016 May;39(3):457-464. doi: 10.1007/s10545-016-9919-z. Epub 2016 Feb 24.
2016
Enzyme Res
Immunomodulatory Effects of Chitotriosidase Enzyme. Enzyme Res. 2016;2016:2682680. doi: 10.1155/2016/2682680. Epub 2016 Jan 3.
2016
Pediatr Nephrol.
Autophagy in renal diseases. Pediatr Nephrol. 2016 May;31(5):737-52. doi: 10.1007/s00467-015-3134-2. Epub 2015 Jul 4.
2015
Stem Cells Int
Human Urine as a Noninvasive Source of Kidney Cells. Stem Cells Int. 2015;2015:362562. doi: 10.1155/2015/362562. Epub 2015 May 18.
2015
Simplified screening criteria for HNF1B analysis. Kidney Int. 2015 Jun;87(6):1258-9. doi: 10.1038/ki.2015.49.
Kidney Int
2015
Pediatr Nephrol.
Management dilemmas in pediatric nephrology: Cystinosis. Pediatr Nephrol. 2015 Aug;30(8):1349-60. doi: 10.1007/s00467-015-3117-3. Epub 2015 May 9.
2015
Early Hum Dev
Neonatal creatinemia trends as biomarker of subsequent cognitive outcome in extremely low birth weight neonates. Early Hum Dev. 2015 Jun;91(6):367-72. doi: 10.1016/j.earlhumdev.2015.03.008. Epub 2015 Apr 25.
2015
PLoS One
Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin. PLoS One. 2015 Mar 26;10(3):e0120998. doi: 10.1371/journal.pone.0120998. eCollection 2015.
2015
Neuromuscul Disord
Renal function in children and adolescents with Duchenne muscular dystrophy. Neuromuscul Disord. 2015 May;25(5):381-7. doi: 10.1016/j.nmd.2015.01.005. Epub 2015 Jan 19.
2015
Mol Pharm
The functional implications of common genetic variation in CYP3A5 and ABCB1 in human proximal tubule cells. Mol Pharm. 2015 Mar 2;12(3):758-68. doi: 10.1021/mp500590s. Epub 2015 Jan 29.
2015
Cystinosis: a new perspective. Acta Clin Belg. 2016 Jun;71(3):131-7. doi: 10.1179/2295333714Y.0000000113.
Acta Clin Belg
2015
Nephrol Dial Transplant
Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract. Nephrol Dial Transplant. 2015 May;30(5):835-42. doi: 10.1093/ndt/gfu370. Epub 2014 Dec 13.
2014
Orphanet J Rare Dis
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis. Orphanet J Rare Dis. 2014 Nov 19;9:155. doi: 10.1186/s13023-014-0155-z.
2014
Pediatr Endocrinol Rev
Cystinosis: clinical presentation, pathogenesis and treatment. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:176-84.
2014
Int J Nephrol Renovasc Dis
Improving the prognosis of nephropathic cystinosis. Int J Nephrol Renovasc Dis. 2014 Jul 17;7:297-302. doi: 10.2147/IJNRD.S37603. eCollection 2014.
2014
Pflugers Arch
Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin. Pflugers Arch. 2014 Aug;466(8):1591-604. doi: 10.1007/s00424-013-1394-x. Epub 2013 Nov 6.
2013
Int J Pharm
From gut to kidney: transporting and metabolizing calcineurin-inhibitors in solid organ transplantation. Int J Pharm. 2013 Aug 16;452(1-2):14-35. doi: 10.1016/j.ijpharm.2013.05.033. Epub 2013 May 24.
2013
J Pediatr.
Copper deficiency in patients with cystinosis with cysteamine toxicity. J Pediatr. 2013 Sep;163(3):754-60. doi: 10.1016/j.jpeds.2013.03.078. Epub 2013 May 4.
January 25, 2025
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2013
Drug Discov Today
Cysteamine: an old drug with new potential. Drug Discov Today. 2013 Aug;18(15-16):785-92. doi: 10.1016/j.drudis.2013.02.003. Epub 2013 Feb 14.
2012
Mol Genet Metab
Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate. Mol Genet Metab. 2012 Sep;107(1-2):234-6. doi: 10.1016/j.ymgme.2012.06.017. Epub 2012 Jul 6.
2012
Pediatr Nephrol
Detailed studies of growth hormone secretion in cystinosis patients. Pediatr Nephrol. 2012 Nov;27(11):2123-2127. doi: 10.1007/s00467-012-2213-x. Epub 2012 Jun 5.
2012
Fertil Steril
Studying nonobstructive azoospermia in cystinosis: histologic examination of testes and epididymis and sperm analysis in a Ctns⁻/⁻ mouse model. Fertil Steril. 2012 Jul;98(1):162-5. doi: 10.1016/j.fertnstert.2012.03.050. Epub 2012 May 10.
2011
Clin J Am Soc Nephrol
Improvement in the renal prognosis in nephropathic cystinosis. Clin J Am Soc Nephrol. 2011 Oct;6(10):2485-91. doi: 10.2215/CJN.02000311. Epub 2011 Aug 25.
2011
J Pediatr
Cysteamine toxicity in patients with cystinosis. J Pediatr. 2011 Dec;159(6):1004-11. doi: 10.1016/j.jpeds.2011.05.057. Epub 2011 Jul 23.
2011
Pediatrics
Apparent mineralocorticoid excess: time of manifestation and complications despite treatment. Pediatrics. 2011 Jun;127(6):e1610-4. doi: 10.1542/peds.2010-1928. Epub 2011 May 2.
2011
Biochim Biophys Acta
Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells. Biochim Biophys Acta. 2011 Jun;1812(6):643-51. doi: 10.1016/j.bbadis.2011.02.010. Epub 2011 Feb 28.
2011
J Inherit Metab Dis
Non-invasive measurements of atherosclerosis in adult cystinosis patients. J Inherit Metab Dis. 2011 Jun;34(3):811-8. doi: 10.1007/s10545-011-9281-0. Epub 2011 Feb 9.
2011
Pharmaceutics
Role of p-glycoprotein expression and function in cystinotic renal proximal tubular cells. Pharmaceutics. 2011 Oct 27;3(4):782-92. doi: 10.3390/pharmaceutics3040782.
2011
Pediatr Nephro
Pharmacokinetics of cysteamine in a cystinosis patient treated with hemodialysis. Pediatr Nephrol. 2011 Apr;26(4):639-40. doi: 10.1007/s00467-010-1680-1. Epub 2010 Oct 24.
2010
Am J Physiol Renal Physiol.
The pathogenesis of cystinosis: mechanisms beyond cystine accumulation. Am J Physiol Renal Physiol. 2010 Nov;299(5):F905-16. doi: 10.1152/ajprenal.00318.2010. Epub 2010 Sep 8.
2010
Pediatr Nephrol.
Cystinosis: practical tools for diagnosis and treatment. Pediatr Nephrol. 2011 Feb;26(2):205-15. doi: 10.1007/s00467-010-1627-6. Epub 2010 Aug 24.
2010
Cell Tissue Res.
Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters. Cell Tissue Res. 2010 Feb;339(2):449-57. doi: 10.1007/s00441-009-0882-y. Epub 2009 Nov 10.
2010
Fertil Steril
Fertility status in male cystinosis patients treated with cysteamine. Fertil Steril. 2010 Apr;93(6):1880-3. doi: 10.1016/j.fertnstert.2008.12.113. Epub 2009 Feb 12.
2008
Gitelman syndrome. Orphanet J Rare Dis. 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22.
Orphanet J Rare Dis
2008
Pediatr Res
Mitochondrial complex V expression and activity in cystinotic fibroblasts. Pediatr Res. 2008 Nov;64(5):495-7. doi: 10.1203/PDR.0b013e318183fd67.
2008
Am J Kidney Dis
Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis. Am J Kidney Dis. 2008 Jun;51(6):893-903. doi: 10.1053/j.ajkd.2008.03.010. Epub 2008 May 2.
2008
Neurochem Res
The use of CDME in cystinosis research. Neurochem Res. 2008 Nov;33(11):2373-4. doi: 10.1007/s11064-008-9709-6. Epub 2008 Apr 22.
2007
Cystine dimethylester model of cystinosis: still reliable? Pediatr Res. 2007 Aug;62(2):151-5.
Pediatr Res
2007
Mol Genet Metab
The origin of halitosis in cystinotic patients due to cysteamine treatment. Mol Genet Metab. 2007 Jul;91(3):228-33. Epub 2007 May 21.
2006
Acta Paediatr.
Development of Fanconi syndrome during infancy in a patient with cystinosis. Acta Paediatr. 2006 Mar;95(3):379-80.
2006
Pediatr Res
Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts. Pediatr Res. 2006 Feb;59(2):287-92.
2006
Pediatr Nephrol.
Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis. Pediatr Nephrol. 2006 Jan;21(1):110-3. Epub 2005 Oct 27.
2005
Nephrol Dial Transplant
Altered status of glutathione and its metabolites in cystinotic cells. Nephrol Dial Transplant. 2005 Sep;20(9):1828-32. Epub 2005 Jun 14.
2004
Clin Chem
Comparison of cystine determination in mixed leukocytes vs polymorphonuclear leukocytes for diagnosis of cystinosis and monitoring of cysteamine therapy. Clin Chem. 2004 Sep;50(9):1686-8.
2002
Nephrol Dial Transplant
Follow-up and treatment of adults with cystinosis in the Netherlands. Nephrol Dial Transplant. 2002 Oct;17(10):1766-70.