UCL School of Life and Medical Sciences

2013

• Mahmood F, Mozere M, Zdebik AA, Stanescu HC, Tobin J, Beales PL, Kleta R, Bockenhauer D, Russell C (2013). Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.. Dis Model Mech, 6(3), 652 - 660. doi:10.1242/dmm.009480
• Coenen MJH, Hofstra JM, Debiec H, Stanescu HC, Medlar AJ, Stengel B, Boland-Auge A, Groothuismink JM, Bockenhauer D, Powis SH, Mathieson PW, Brenchley PE, Kleta R, Wetzels JFM, Ronco P (2013). Phospholipase A2 receptor (PLA2R1) sequence variations in idiopathic membranous nephropathy. Journal of the American Society of Nephrology, , - .
• Fish RS, Klootwijk E, Tam FWK, Kleta R, Wheeler DC, Unwin RJ, Norman J (2013). ATP and arterial calcification. European Journal of Clinical Investigation, 43(4), 405 - 412.
• Nibali L, Medlar A, Stanescu H, Kleta R, Darbar U, Donos N (2013). Linkage analysis confirms heterogeneity of hereditary gingival fibromatosis. Oral Diseases, 19(1), 100 - 105.
• Medlar A, Głowacka D, Stanescu H, Bryson K, Kleta R (2013). SwiftLink: parallel MCMC linkage analysis using multicore CPU and GPU.. Bioinformatics, 29(4), 413 - 419. doi:10.1093/bioinformatics/bts704

2012

• Topaloglu R, Vilboux T, Coskun T, Ozaltin F, Tinloy B, Gunay-Aygun M, Bakkaloglu A, Besbas N, van den Heuvel L, Kleta R, Gahl WA (2012). Genetic basis of cystinosis in Turkish patients: a single-center experience.. Pediatr Nephrol, 27(1), 115 - 121. doi:10.1007/s00467-011-1942-6
• Bockenhauer D, Medlar AJ, Ashton E, Kleta R, Lench N (2012). Genetic testing in renal disease.. Pediatr Nephrol, 27(6), 873 - 883. doi:10.1007/s00467-011-1865-2
• Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, Dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R (2012). Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations.. Nephron Physiol, 122(1-2), 1 - 6. doi:10.1159/000349989
• Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiute D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Kelsell D, Vulliamy T, Houlden H, Wood N, Sheerin U, Tonini GP, Mackay D, Hussain K, Sowden J, Kinsler V, Osinska J, Brooks T, Hubank M, Beales P, Stupka E (2012). Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes. PLoS ONE, 7(12), - .
• Hersheson J, Mencacci NE, Davis M, Macdonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H (2012). Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.. Ann Neurol, , - . doi:10.1002/ana.23832
• Hofstra JM, Debiec H, Short CD, Pellé T, Kleta R, Mathieson PW, Ronco P, Brenchley PE, Wetzels JF (2012). Antiphospholipase A 2 receptor antibody titer and subclass in idiopathic membranous nephropathy. Journal of the American Society of Nephrology, 23(10), 1735 - 1743.
• Landouré G, Knight MA, Stanescu H, Taye AA, Shi Y, Diallo O, Johnson JO, Hernandez D, Traynor BJ, Biesecker LG, NIH Intramural Sequencing Center , Elkahloun A, Rinaldi C, Vincent A, Willcox N, Kleta R, Fischbeck KH, Burnett BG (2012). A candidate gene for autoimmune myasthenia gravis.. Neurology, 79(4), 342 - 347. doi:10.1212/WNL.0b013e318260cbd0
• Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC (2012). A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.. J Med Genet, 49(7), 462 - 472. doi:10.1136/jmedgenet-2012-100742

2011

• Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA (2011). NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.. Nat Genet, 43(8), 732 - 734. doi:10.1038/ng.883
• Böckenhauer D, Stanescu H, Bandulik S, Reichold M, Zdebik A, Warth R, Kleta R (2011). EAST syndrome : A new disease with renal salt wasting | EAST-Syndrom : Ein neues Krankheitsbild mit renalem Salzverlust. Nephrologe, 6(6), 529 - 536.
• Bandulik S, Schmidt K, Bockenhauer D, Zdebik AA, Humberg E, Kleta R, Warth R, Reichold M (2011). The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.. Pflugers Arch, 461(4), 423 - 435. doi:10.1007/s00424-010-0915-0
• St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M (2011). NT5E mutations and arterial calcifications.. N Engl J Med, 364(5), 432 - 442. doi:10.1056/NEJMoa0912923
• Thompson DA, Feather S, Stanescu HC, Freudenthal B, Zdebik AA, Warth R, Ognjanovic M, Hulton SA, Wassmer E, van't Hoff W, Russell-Eggitt I, Dobbie A, Sheridan E, Kleta R, Bockenhauer D (2011). Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.. J Physiol, 589(Pt 7), 1681 - 1689. doi:10.1113/jphysiol.2010.198531
• Jaureguiberry G, Van't Hoff W, Mushtaq I, Desai D, Mann NP, Kleta R, Bichet DG, Bockenhauer D (2011). A patient with polyuria and hydronephrosis: question.. Pediatr Nephrol, 26(11), 1977 - 1980. doi:10.1007/s00467-011-1780-6
• Jaureguiberry G, Van't Hoff W, Mushtaq I, Desai D, Mann NP, Kleta R, Bichet DG, Bockenhauer D (2011). A patient with polyuria and hydronephrosis: answer.. Pediatr Nephrol, 26(11), 1979 - 1980. doi:10.1007/s00467-011-1782-4
• Stanescu HC, Arcos-Burgos M, Medlar A, Bockenhauer D, Kottgen A, Dragomirescu L, Voinescu C, Patel N, Pearce K, Hubank M, Stephens HA, Laundy V, Padmanabhan S, Zawadzka A, Hofstra JM, Coenen MJ, den Heijer M, Kiemeney LA, Bacq-Daian D, Stengel B, Powis SH, Brenchley P, Feehally J, Rees AJ, Debiec H, Wetzels JF, Ronco P, Mathieson PW, Kleta R (2011). Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.. N Engl J Med, 364(7), 616 - 626. doi:10.1056/NEJMoa1009742
• Marks SD, Gullett AM, Brennan E, Tullus K, Jaureguiberry G, Klootwijk E, Stanescu HC, Kleta R, Woolf AS (2011). Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations.. Pediatr Nephrol, 26(10), 1857 - 1861. doi:10.1007/s00467-011-1891-0
• Freudenthal B, Kulaveerasingam D, Lingappa L, Shah MA, Brueton L, Wassmer E, Ognjanovic M, Dorison N, Reichold M, Bockenhauer D, Kleta R, Zdebik AA (2011). KCNJ10 Mutations Disrupt Function in Patients with EAST Syndrome.. Nephron Physiol, 119(3), p40 - p48. doi:10.1159/000330250
• Kleta R, Klootwijk E, Stanescu H, Bockenhauer D (2011). Filtering the genes and sorting the glomerular filter: a new piece in the puzzle?. Nephrol Dial Transplant, 26(9), 2743 - 2745. doi:10.1093/ndt/gfr437
• Ciarimboli G, Holle SK, Vollenbröcker B, Hagos Y, Reuter S, Burckhardt G, Bierer S, Herrmann E, Pavenstädt H, Rossi R, Kleta R, Schlatter E (2011). New clues for nephrotoxicity induced by ifosfamide: preferential renal uptake via the human organic cation transporter 2.. Mol Pharm, 8(1), 270 - 279. doi:10.1021/mp100329u
• Domené S, Stanescu H, Wallis D, Tinloy B, Pineda DE, Kleta R, Arcos-Burgos M, Roessler E, Muenke M (2011). Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility.. Am J Med Genet B Neuropsychiatr Genet, 156B(1), 11 - 18. doi:10.1002/ajmg.b.31141
• Stanescu HC, Kottgen A, Kleta R (2011). Risk alleles in idiopathic membranous nephropathy (reply). New Engl J Med, 364, 2073 - 2074.

2010

• Landoure G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ (2010). Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nature Genetics, 42(2), 170 - 174. doi:10.1038/ng.512
• Medlar A, Kleta R (2010). Cystinosis and mickey mouse. Nephrol Dial Transplant, 25, 1032 - 1033.
• Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T (2010). Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.. Blood, 116(23), 4990 - 5001. doi:10.1182/blood-2010-05-286534
• Arcos-Burgos M, Jain M, Acosta MT, Shively S, Stanescu H, Wallis D, Domené S, Vélez JI, Karkera JD, Balog J, Berg K, Kleta R, Gahl WA, Roessler E, Long R, Lie J, Pineda D, Londoño AC, Palacio JD, Arbelaez A, Lopera F, Elia J, Hakonarson H, Johansson S, Knappskog PM, Haavik J, Ribases M, Cormand B, Bayes M, Casas M, Ramos-Quiroga JA, Hervas A, Maher BS, Faraone SV, Seitz C, Freitag CM, Palmason H, Meyer J, Romanos M, Walitza S, Hemminger U, Warnke A, Romanos J, Renner T, Jacob C, Lesch KP, Swanson J, Vortmeyer A, Bailey-Wilson JE, Castellanos FX, Muenke M (2010). A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.. Mol Psychiatry, 15(11), 1053 - 1066. doi:10.1038/mp.2010.6
• Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y (2010). OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.. Mol Genet Metab, 100(2), 149 - 154. doi:10.1016/j.ymgme.2010.03.005
• Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini I, Fischer RE, Krasnewich D, Oden N, Ling A, Quezado Z, Zak C, Daryanani KT, Turkbey B, Choyke P, Guay-Woodford LM, Gahl WA (2010). Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.. Clin J Am Soc Nephrol, 5(6), 972 - 984. doi:10.2215/CJN.07141009
• Reichold M, Zdebik AA, Lieberer E, Rapedius M, Schmidt K, Bandulik S, Sterner C, Tegtmeier I, Penton D, Baukrowitz T, Hulton SA, Witzgall R, Ben-Zeev B, Howie AJ, Kleta R, Bockenhauer D, Warth R (2010). KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.. Proc Natl Acad Sci U S A, 107(32), 14490 - 14495. doi:10.1073/pnas.1003072107

2009

• Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta R, Wang NS, Knepper MA (2009). Large-scale proteomics and phosphoproteomics of urinary exosomes. Journal of the American Society of Nephrology, 20, 363 - 379.
• Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Ruchi A, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R (2009). Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. New England Journal of Medicine, 360(19), 1960 - 1970.
• Camargo SMR, Singer D, Makrides V, Huggel K, Pos KM, Wagner CA, Kuba K, Danilczyk U, Skovby F, Kleta R, Penninger JM, Verrey F (2009). Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with Hartnup mutations. Gastroenterology, 136, 872 - 882.
• Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O'Brien K, Kleta R, Huizing M, Gahl WA (2009). Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Human Mutation, 30, 1611 - 1619.
• Bockenhauer D, Stanescu HC, Kleta R (2009). The EAST Syndrome and KCNJ10 Mutations REPLY. NEW ENGL J MED, 361(6), 630 - 631.
• Bockenhauer D, Hug MJ, Kleta R (2009). Cystic fibrosis, aminoglycoside treatment and acute renal failure: the not so gentle micin. Pediatric Nephrology, 24(5), 925 - 928.
• Clark JA, Turner ML, Howard L, Stanescu H, Kleta R, Kopp JB (2009). Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity. BMC Dermatology, 9, 8 - . doi:10.1186/1471-5945-9-8

2008

• Bockenhauer D, Cruwys M, Kleta R, Halperin LF, Wildgoose P, Souma T, Nukiwa N, Cheema-Dhadli S, Chong CK, Kamel KS, Davids MR, Halperin ML (2008). Antenatal Bartter's syndrome: why is this not a lethal condition?. QJM, 101, 927 - 942.
• Camargo SMR, Bockenhauer D, Kleta R (2008). Aminoacidurias: Clinical and molecular aspects. Kidney International, 73(8), 918 - 925.
• Westbroek W, Tuchman M, Tinloy B, De Wever O, Vilboux T, Hertz JM, Hasle H, Heilmann C, Helip-Wooley A, Kleta R, Gahl WA (2008). A novel missense mutation (G34S) in the switch I region of Rab27A causing Griscelli syndrome. Molecular Genetics and Metabolism, 94, 248 - 254.
• Kleta R (2008). Fanconi or not Fanconi? Lowe syndrome revisited. Clinical Journal of the American Society of Nephrology, 3, 1244 - 1245.
• Bockenhauer D, Debiec H, Sebire N, Barratt M, Warwicker P, Ronco P, Kleta R (2008). Familial membranous nephropathy: an X-linked genetic susceptibility?. Nephron Clinical Practice, 108(1), c10 - c15.

2007

• Gahl WA, Balog J, Kleta R (2007). Nephropathic cystinosis in adults: Natural history and effects of oral cysteamine therapy.. Annals of Internal Medicine, 147(4), 242 - 250.
• Westbroek W, Adams D, Huizing M, Koshoffer A, Dorward H, Tinloy B, Parkes J, Helip-Wooley A, Kleta R, Tsilou E, Duvernay P, Digre KB, Creel DJ, White JG, Boissy RE, Gahl WA (2007). Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. Journal of Investigative Dermatology, 127, 2674 - 2677.
• Kleta R, Gahl WA (2007). Collecting evidence: the case of collectrin (Tmem27) and amino acid transport. American Journal of Physiology, 292, F531 - F532.
• Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F (2007). Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. The American Journal of Human Genetics, 80, 971 - 981. doi:10.1086/516843

2006

• O'Brien K, Hussain N, Warady BA, Kleiner DE, Kleta R, Bernardini I, Heller T, Gahl WA (2006). Nodular regenerative hyperplasia and severe portal hypertension in cystinosis. CLIN GASTROENTEROL H, 4(3), 387 - 394. doi:10.1053/S1542-3565(05)01184-5
• Kleta R (2006). A deeper look into cysteamine absorption for the treatment of cystinosis. The Journal of Pediatrics, 148, 718 - 719.
• Kleta R (2006). A key stone cop regulates oxalate homeostasis. Nature Genetics, 38, 403 - 404. doi:10.1038/ng0406-403
• Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG, Guay-Woodford L, Harris P, Heller T, Ingelfinger J, Kaskel F, Kleta R, Larusso NF, Mohan P, Pazour GJ, Shneider BL, Torres VE, Wilson P, Zak C, Zhou J, Gahl WA (2006). Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a first National Institutes of Health/Office of Rare Diseases conference. The Journal of Pediatrics, 149, 159 - 164.
• Kleta R, Bockenhauer D (2006). Bartter syndromes and other salt-losing tubulopathies. Nephron Physiology, 104(2), p73 - p80.
• Lotan D, Eisenkraft A, Jacobsson JM, Bar-Yosef O, Kleta R, Gal N, Raviv-Zilka L, Gore H, Anikster Y (2006). Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome. Pediatric Nephrology, 21, 423 - 426.
• Ueda M, O'Brien K, Rosing DR, Ling A, Kleta R, McAreavey D, Bernardini I, Gahl WA (2006). Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. Clinical Journal of the American Society of Nephrology, 1, 555 - 562.

2005

• Zarzour W, Kleta R, Frangoul H, Suwannarat P, Jeong A, Kim SY, Wayne AS, Gunay-Aygun M, White J, Filipovich AH, Gahl WA (2005). Two novel CHS1 (LYST) mutations: Clinical correlations in an infant with Chediak-Higashi syndrome. Molecular Genetics and Metabolism, 85, 125 - 132.
• Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA (2005). Swallowing dysfunction in 101 patients with nephropathic cystinosis; Benefit of long-term cysteamine therapy. Medicine, 84, 137 - 146.
• Morse RP, Kleta R, Alroy J, Gahl WA (2005). Novel form of intermediate Salla disease: Clinical and neuroimaging features. Journal of Child Neurology, 20, 814 - 816.
• Kleta R, Kaskel F, Dohil R, Goodyer P, Guay-Woodford LM, Harms E, Ingelfinger JR, Koch VH, Langman CB, Leonard MB, Mannon RB, Sarwal M, Schneider JA, Skovby F, Sonies BC, Thoene JG, Trauner DA, Gahl WA (2005). First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future. Pediatric Nephrology, 20, 452 - 454.
• Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulus SG, Bei T, Bjornson B, Russell L, Chanoine JP, Tsagarakis S, Kalsner LR, Stratakis CA (2005). Genotypic heterogeneity and clinical phenotype in triple A syndrome: A review of the NIH experience 2000-2005. Clinical Genetics, 68, 215 - 221.

2004

• Bendavid C, Kleta R, Long R, Ouspenskaia M, Muenke M, Haddad BR, Gahl WA (2004). FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. Human Genetics, 115, 510 - 514.
• Huizing M, Hess R, Dorward H, Classen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA (2004). Clinical, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic, 5, 711 - 722.
• Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA (2004). Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. Molecular Genetics and Metabolism, 82, 137 - 143.
• Kleta R, O'Brien K (2004). Aldosterone revisited (correspondence). New England Journal of Medicine, 351, 2131 - 2131.
• Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, rcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A (2004). Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nature Genetics, 36(9), 999 - 1002. doi:10.1038/ng1405
• Kleta R, Blair SC, Bernardini I, Kaiser-Kupfer MI, Gahl WA (2004). Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis. Mayo Clinical Proceedings, 79, 410 - 412.
• Kleta R, Stuart C, Gill FA, Gahl WA (2004). Renal glucosuria due to SGLT2 mutations. Molecular Genetics and Metabolism, 82, 56 - 58.
• Westbroek W, Lambert J, de Schepper S, Kleta R, Van den Bossche K, Seabra MC, Huizing M, Mommaas M, Naeyaert JM (2004). Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-myosin Va transcripts. Pigment Cell Research, 17, 498 - 505.
• Kleta R, Gahl WA (2004). Pharmacological treatment of nephropathic cystinosis with cysteamine. Expert Opinion on Pharmacotherapy, 5, 2255 - 2262.
• Kleta R, Bernardini I, Ueda M, Varade WS, Phornphutkul C, Krasnewich D, Gahl WA (2004). Long-term follow-up of well-treated nephropathic cystinosis patients. The Journal of Pediatrics, 145, 555 - 560.

2003

• Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, Anikster Y, Orvisky E, Natowicz M, Krasnewich D, Gahl WA (2003). Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. American Journal of Medical Genetics Part A, 120A, 28 - 33.
• Martin RA, Slaugh R, Natowicz M, Pearlman K, Orvisky E, Krasnewich D, Kleta R, Huizing M, Gahl WA (2003). Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. American Journal of Medical Genetics Part A, 120A, 23 - 27.

2002

• Cetinkaya I, Schlatter E, Hirsch JR, Herter P, Harms E, Kleta R (2002). Inhibition of Na+-dependent transporters in cystine-loaded human renal cells: Electrophysiological studies on the Fanconi syndrome of cystinosis. Journal of the American Society of Nephrology, 13, 2085 - 2093.
• Kleta R, Gahl WA (2002). Cystinosis: Antibodies and healthy bodies. Journal of the American Society of Nephrology, 13, 2189 - 2191.
• Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y (2002). 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: Clinical and molecular findings. Molecular Genetics and Metabolism, 76, 201 - 206.
• Ben-Zeev B, Levy-Nissenbaum E, Lahat H, Anikster Y, Shinar Y, Brand N, Gross-Tzur V, MacGregor D, Sidi R, Kleta R, Frydman M, Pras E (2002). Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan jews. Human Genetics, 111, 214 - 218.

2001

• Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O (2001). Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.. The American Journal of Human Genetics, 69(6), 1218 - 1224. doi:10.1086/324651
• Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA (2001). CTNS mutations in African American patients with cystinosis. Molecular Genetics and Metabolism, 74, 332 - 337.
• Kuwertz-Broking E, Frund S, Bulla M, Kleta R, August C, Kisters K (2001). Familial hypomagnesemia-hypercalciuria in 2 siblings. Clinical Nephrology, 56, 155 - 161.

2000

• Denecke J, Zimmer K-P, Kleta R, Koch HG, Rabe H, August C, Harms E (2000). [Arthrogryposis, renal tubular dysfunction, cholestasis (ARC)-syndrome: Case report and review of the literature]. Klinische Padiatrie, 212, 77 - 80.
• Kleta R, Basoglu C, Kuwertz-Broking E (2000). New treatment options for Bartter's syndrome (letter). New England Journal of Medicine, 343, 661 - 662.
• Kleta R, Frund S, Kuwertz-Broking E, Bulla M (2000). Intraperitoneal application of low-molecular-weight heparin in continuous ambulatory peritoneal dialysis in a child. Nephron, 86, 545 - 545.
• Kleta R, Bramswig JH (2000). Horseshoe kidney and Turner syndrome. Nephrology Dialysis Transplantation, 15, 1094 - 1094.

1999

• Schleef J, Wagner A, Kleta R, Schaarschmidt K, Dockhorn-Dworniczak B, Willital GH, Jurgens H (1999). Small-cell carcinoma of the ovary of the hypercalcemic type in an 8-year-old girl. Pediatric Surgery International, 15, 431 - 434.
• Rossi R, Kleta R, Ehrich JHH (1999). Renal involvement in children with malignancies. Pediatric Nephrology, 13, 153 - 162.
• Rossi R, Pleyer J, Schafers P, Kuhn N, Kleta R, Deufel T, Jurgens H (1999). Development of ifosfamide-induced nephrotoxicity: Prospective follow-up in 75 patients. Medical and Pediatric Oncology, 32, 177 - 182.
• Kleta R, Brune T, Harms E (1999). Cystic fibrosis and metabolic alkalosis in children - Revisited. Mineral and Electrolyte Metabolism, 25, 210 - 210.
• Kleta R, Burckhardt BC, Wolff NA, Schlatter E (1999). Unexpected electrophysiological effects of D-19575, a new cytostatic drug.. Nephrology Dialysis Transplantation, 14, Suppl. 4, 18 - 20.
• Kleta R (1999). Cyclophosphamide and mercaptoethane sulfonate therapy for minimal lesion glomerulonephritis. Kidney International, 56, 2312 - 2313.

1998

• Kleta R, Schleef J, Jurgens H (1998). Letter to the editor: Tissue plasminogen activator and obstructed central venous catheters. MED PEDIATR ONCOL, 30(6), 376 - 376.
• Kleta R, Wagner A, Jurgens H (1998). Recurrence of SIADH after a high-dose regimen of thiotepa, carboplatin, and etoposide phosphate. Medical and Pediatric Oncology, 31, 129 - 129.
• Stachon A, Hohage H, Feidt C, Kleta R, Schlatter E (1998). Cytostatics and neurotransmitters are transported by the organic cation transporter in proximal cells. Nova Acta Leopoldina, N.F.,Bd. 78(306), 333 - 338.

1997

• Schlatter E, Ankorina-Stark I, Cermak R, Haxelmans S, Kleta R, Hirsch JR (1997). Cell shrinkage activates a cation conductance in principal cells of rat cortical collecting duct. Cellular Physiology and Biochemistry, 7, 321 - 332.
• Hirsch JR, Cermak R, Forssmann W-G, Kleta R, Kruhoffer M, Kuhn M, Schafer JA, Sun D, Schlatter E (1997). Effects of sodium nitroprusside in the rat cortical collecting duct are independent of the NO pathway. Kidney International, 51, 473 - 476.

1996

• Schlatter E, Cermak R, Forssmann W-G, Hirsch JR, Kleta R, Kuhn M, Sun D, Schafer JA (1996). cGMP activitating peptides do not regulate electrogenic electrolyte transport in principal cells of rat CCD. American Journal of Physiology, 271, F1158 - F1165.
• Cermak R, Kleta R, Forssmann WG, Schlatter E (1996). Natriuretic peptides increase a K+ conductance in rat mesangial cells. Pflügers Archiv European Journal of Physiology, 431, 571 - 577.

1995

• Kleta R, Mohrmann M, Schlatter E (1995). Effects of cell differentiation on ion conductances and membrane voltage in LLC-PK1 cells. Pflügers Archiv European Journal of Physiology, 429, 370 - 377.
• Kleta R, Hirsch J, Heidenreich S, Schluter H, Zidek W, Schlatter E (1995). Effects of diadenosine polyphosphates, ATP and angiotensin II on membrane voltage and membrane conductances of rat mesangial cells. Pflügers Archiv European Journal of Physiology, 430, 713 - 720.
• Schlatter E, Ankorina I, Haxelmans S, Kleta R (1995). Effects of diadenosine polyphosphates, ATP and angiotensin II on cytosolic Ca2+ activity and contraction of rat mesangial cells. Pflügers Archiv European Journal of Physiology, 430, 721 - 728.
• Schlatter E, Haxelmans S, Ankorina I, Kleta R (1995). Regulation of Na+/H+ exchange by diadenosine polyphosphates, angiotensin II and vasopressin in rat cortical collecting duct. Journal of the American Society of Nephrology, 6, 1223 - 1229.