PubMed

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O'Brien K, Kleta R, Huizing M, Gahl WA.

Hum Mutat. 2009 Sep 4. [Epub ahead of print]PMID: 19862842 [PubMed - as supplied by publisher]Related articles

Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity.

Clark JA, Turner ML, Howard L, Stanescu H, Kleta R, Kopp JB.

BMC Dermatol. 2009 Jul 28;9:8.PMID: 19638218 [PubMed - indexed for MEDLINE]Related articlesFree article

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, 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.

N Engl J Med. 2009 May 7;360(19):1960-70.PMID: 19420365 [PubMed - indexed for MEDLINE]Related articlesFree article

Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.

Camargo SM, Singer D, Makrides V, Huggel K, Pos KM, Wagner CA, Kuba K, Danilczyk U, Skovby F, Kleta R, Penninger JM, Verrey F.

Gastroenterology. 2009 Mar;136(3):872-82. Epub 2008 Oct 29.PMID: 19185582 [PubMed - indexed for MEDLINE]Related articles

Large-scale proteomics and phosphoproteomics of urinary exosomes.

Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta R, Wang NS, Knepper MA.

J Am Soc Nephrol. 2009 Feb;20(2):363-79. Epub 2008 Dec 3.PMID: 19056867 [PubMed - indexed for MEDLINE]Related articles

Cystic fibrosis, aminoglycoside treatment and acute renal failure: the not so gentle micin.

Bockenhauer D, Hug MJ, Kleta R.

Pediatr Nephrol. 2009 May;24(5):925-8. Epub 2008 Nov 13.PMID: 19005685 [PubMed - indexed for MEDLINE]Related articles

Antenatal Bartter's syndrome: why is this not a lethal condition?

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.

QJM. 2008 Dec;101(12):927-42. Epub 2008 Oct 1.PMID: 18829713 [PubMed - indexed for MEDLINE]Related articles

Fanconi or not Fanconi? Lowe syndrome revisited.

Kleta R.

Clin J Am Soc Nephrol. 2008 Sep;3(5):1244-5. Epub 2008 Jul 30. No abstract available. PMID: 18667737 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.

Westbroek W, Tuchman M, Tinloy B, De Wever O, Vilboux T, Hertz JM, Hasle H, Heilmann C, Helip-Wooley A, Kleta R, Gahl WA.

Mol Genet Metab. 2008 Jun;94(2):248-54. Epub 2008 Apr 7.PMID: 18397837 [PubMed - indexed for MEDLINE]Related articlesFree article

Aminoacidurias: Clinical and molecular aspects.

Camargo SM, Bockenhauer D, Kleta R.

Kidney Int. 2008 Apr;73(8):918-25. Epub 2008 Jan 16. Review.PMID: 18200002 [PubMed - indexed for MEDLINE]Related articles

Familial membranous nephropathy: an X-linked genetic susceptibility?

Bockenhauer D, Debiec H, Sebire N, Barratt M, Warwicker P, Ronco P, Kleta R.

Nephron Clin Pract. 2008;108(1):c10-5. Epub 2007 Dec 13.PMID: 18075275 [PubMed - indexed for MEDLINE]Related articles

Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy.

Gahl WA, Balog JZ, Kleta R.

Ann Intern Med. 2007 Aug 21;147(4):242-50.PMID: 17709758 [PubMed - indexed for MEDLINE]Related articlesFree article

Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation.

Ueda M, O'Brien K, Rosing DR, Ling A, Kleta R, McAreavey D, Bernardini I, Gahl WA.

Clin J Am Soc Nephrol. 2006 May;1(3):555-62. Epub 2006 Feb 8.PMID: 17699259 [PubMed - indexed for MEDLINE]Related articlesFree article

Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.

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.

J Invest Dermatol. 2007 Nov;127(11):2674-7. Epub 2007 May 31. No abstract available. PMID: 17554367 [PubMed - indexed for MEDLINE]Related articlesFree article

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.

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.

Am J Hum Genet. 2007 May;80(5):971-81. Epub 2007 Mar 30.PMID: 17436252 [PubMed - indexed for MEDLINE]Related articlesFree article

Collecting evidence: the case of collectrin (Tmem27) and amino acid transport.

Kleta R, Gahl WA.

Am J Physiol Renal Physiol. 2007 Feb;292(2):F531-2. Epub 2006 Oct 31. No abstract available. PMID: 17077384 [PubMed - indexed for MEDLINE]Related articlesFree article

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference.

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.

J Pediatr. 2006 Aug;149(2):159-64. No abstract available. PMID: 16887426 [PubMed - indexed for MEDLINE]Related articles

Bartter syndromes and other salt-losing tubulopathies.

Kleta R, Bockenhauer D.

Nephron Physiol. 2006;104(2):p73-80. Epub 2006 Jun 19. Review.PMID: 16785747 [PubMed - indexed for MEDLINE]Related articles

A deeper look into cysteamine absorption for the treatment of cystinosis.

Kleta R.

J Pediatr. 2006 Jun;148(6):718-9. No abstract available. PMID: 16769374 [PubMed - indexed for MEDLINE]Related articles

A key stone cop regulates oxalate homeostasis.

Kleta R.

Nat Genet. 2006 Apr;38(4):403-4. No abstract available. PMID: 16570061 [PubMed - indexed for MEDLINE]Related articles

Nodular regenerative hyperplasia and severe portal hypertension in cystinosis.

O'Brien K, Hussain N, Warady BA, Kleiner DE, Kleta R, Bernardini I, Heller T, Gahl WA.

Clin Gastroenterol Hepatol. 2006 Mar;4(3):387-94.PMID: 16527704 [PubMed - indexed for MEDLINE]Related articles

Novel form of intermediate salla disease: clinical and neuroimaging features.

Morse RP, Kleta R, Alroy J, Gahl WA.

J Child Neurol. 2005 Oct;20(10):814-6.PMID: 16417876 [PubMed - indexed for MEDLINE]Related articles

Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.

Lotan D, Eisenkraft A, Jacobsson JM, Bar-Yosef O, Kleta R, Gal N, Raviv-Zilka L, Gore H, Anikster Y.

Pediatr Nephrol. 2006 Mar;21(3):423-6. Epub 2005 Dec 29.PMID: 16382316 [PubMed - indexed for MEDLINE]Related articles

Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.

Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, Bei T, Bjornson B, Russell L, Chanoine JP, Tsagarakis S, Kalsner L, Stratakis C.

Clin Genet. 2005 Sep;68(3):215-21.PMID: 16098009 [PubMed - indexed for MEDLINE]Related articles

Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.

Zarzour W, Kleta R, Frangoul H, Suwannarat P, Jeong A, Kim SY, Wayne AS, Gunay-Aygun M, White J, Filipovich AH, Gahl WA.

Mol Genet Metab. 2005 Jun;85(2):125-32. Epub 2005 Mar 25.PMID: 15896657 [PubMed - indexed for MEDLINE]Related articles

Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy.

Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA.

Medicine (Baltimore). 2005 May;84(3):137-46.PMID: 15879904 [PubMed - indexed for MEDLINE]Related articles

First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.

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; NIH Office of Rare Diseases.

Pediatr Nephrol. 2005 Apr;20(4):452-4. Epub 2005 Jan 27. Review. No abstract available. PMID: 15747161 [PubMed - indexed for MEDLINE]Related articles

Aldosterone revisited.

Kleta R, O'Brien K.

N Engl J Med. 2004 Nov 11;351(20):2131-3; author reply 2131-3. No abstract available. PMID: 15543661 [PubMed - indexed for MEDLINE]Related articles

Pharmacological treatment of nephropathic cystinosis with cysteamine.

Kleta R, Gahl WA.

Expert Opin Pharmacother. 2004 Nov;5(11):2255-62. Review.PMID: 15500372 [PubMed - indexed for MEDLINE]Related articles

Long-term follow-up of well-treated nephropathic cystinosis patients.

Kleta R, Bernardini I, Ueda M, Varade WS, Phornphutkul C, Krasnewich D, Gahl WA.

J Pediatr. 2004 Oct;145(4):555-60.PMID: 15480385 [PubMed - indexed for MEDLINE]Related articles

FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.

Bendavid C, Kleta R, Long R, Ouspenskaia M, Muenke M, Haddad BR, Gahl WA.

Hum Genet. 2004 Nov;115(6):510-4. Epub 2004 Sep 9.PMID: 15365816 [PubMed - indexed for MEDLINE]Related articles

Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts.

Westbroek W, Lambert J, De Schepper S, Kleta R, Van Den Bossche K, Seabra MC, Huizing M, Mommaas M, Naeyaert JM.

Pigment Cell Res. 2004 Oct;17(5):498-505.PMID: 15357836 [PubMed - indexed for MEDLINE]Related articles

Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA.

Traffic. 2004 Sep;5(9):711-22.PMID: 15296495 [PubMed - indexed for MEDLINE]Related articles

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.

Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-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.

Nat Genet. 2004 Sep;36(9):999-1002. Epub 2004 Aug 1.PMID: 15286787 [PubMed - indexed for MEDLINE]Related articles

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.

Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA.

BMC Ophthalmol. 2004 Jun 24;4:7.PMID: 15217518 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.

Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA.

Mol Genet Metab. 2004 Jun;82(2):137-43.PMID: 15172001 [PubMed - indexed for MEDLINE]Related articles

Renal glucosuria due to SGLT2 mutations.

Kleta R, Stuart C, Gill FA, Gahl WA.

Mol Genet Metab. 2004 May;82(1):56-8.PMID: 15110322 [PubMed - indexed for MEDLINE]Related articles

Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis.

Kleta R, Blair SC, Bernardini I, Kaiser-Kupfer MI, Gahl WA.

Mayo Clin Proc. 2004 Mar;79(3):410-2.PMID: 15008615 [PubMed - indexed for MEDLINE]Related articlesFree article

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.

Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, Anikster Y, Orvisky E, Natowicz M, Krasnewich D, Gahl WA.

Am J Med Genet A. 2003 Jul 1;120A(1):28-33.PMID: 12794688 [PubMed - indexed for MEDLINE]Related articles

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.

Martin RA, Slaugh R, Natowicz M, Pearlman K, Orvisky E, Krasnewich D, Kleta R, Huizing M, Gahl WA.

Am J Med Genet A. 2003 Jul 1;120A(1):23-7.PMID: 12794687 [PubMed - indexed for MEDLINE]Related articles

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.

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.

Hum Genet. 2002 Aug;111(2):214-8. Epub 2002 Jul 16.PMID: 12189496 [PubMed - indexed for MEDLINE]Related articles

Cystinosis: antibodies and healthy bodies.

Kleta R, Gahl WA.

J Am Soc Nephrol. 2002 Aug;13(8):2189-91. Review. No abstract available. PMID: 12138155 [PubMed - indexed for MEDLINE]Related articlesFree article

Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis.

Cetinkaya I, Schlatter E, Hirsch JR, Herter P, Harms E, Kleta R.

J Am Soc Nephrol. 2002 Aug;13(8):2085-93.PMID: 12138140 [PubMed - indexed for MEDLINE]Related articlesFree article

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y.

Mol Genet Metab. 2002 Jul;76(3):201-6.PMID: 12126933 [PubMed - indexed for MEDLINE]Related articles

CTNS mutations in African American patients with cystinosis.

Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA.

Mol Genet Metab. 2001 Nov;74(3):332-7.PMID: 11708862 [PubMed - indexed for MEDLINE]Related articles

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.

Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O.

Am J Hum Genet. 2001 Dec;69(6):1218-24. Epub 2001 Oct 19.PMID: 11668429 [PubMed - indexed for MEDLINE]Related articlesFree article

Familial hypomagnesemia-hypercalciuria in 2 siblings.

Kuwertz-Bröking E, Fründ S, Bulla M, Kleta R, August C, Kisters K.

Clin Nephrol. 2001 Aug;56(2):155-61.PMID: 11522093 [PubMed - indexed for MEDLINE]Related articles

Intraperitoneal application of low-molecular-weight heparin in continuous ambulatory peritoneal dialysis in a child.

Kleta R, Fründ S, Kuwertz-Bröking E, Bulla M.

Nephron. 2000 Dec;86(4):545. No abstract available. PMID: 11124625 [PubMed - indexed for MEDLINE]Related articles

New treatment options for Bartter's syndrome.

Kleta R, Basoglu C, Kuwertz-Bröking E.

N Engl J Med. 2000 Aug 31;343(9):661-2. No abstract available. PMID: 10979805 [PubMed - indexed for MEDLINE]Related articles

Horseshoe kidney and Turner syndrome.

Kleta R, Brämswig JH.

Nephrol Dial Transplant. 2000 Jul;15(7):1094. No abstract available. PMID: 10862660 [PubMed - indexed for MEDLINE]Related articlesFree article