PubMed

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA.

Mol Genet Metab. 2009 Oct 20. [Epub ahead of print]PMID: 19914852 [PubMed - as supplied by publisher]Related articles

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;30(12):1611-1619. [Epub ahead of print]PMID: 19862842 [PubMed - as supplied by publisher]Related articles

Clinical and cellular characterization of Hermansky-Pudlak Syndrome Type-6.

Huizing M, Pederson B, Hess RA, Griffin A, Helip-Wooley A, Westbroek W, Dorward H, O'Brien KJ, Golas G, Tsilou E, White JG, Gahl WA.

J Med Genet. 2009 Oct 20. [Epub ahead of print]PMID: 19843503 [PubMed - as supplied by publisher]Related articles

Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.

Rouhani FN, Brantly ML, Markello TC, Helip-Wooley A, O'Brien K, Hess R, Huizing M, Gahl WA, Gochuico BR.

Am J Respir Crit Care Med. 2009 Dec 1;180(11):1114-21. Epub 2009 Sep 3.PMID: 19729668 [PubMed - in process]Related articles

Glyceryl triacetate for Canavan disease: a low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model.

Madhavarao CN, Arun P, Anikster Y, Mog SR, Staretz-Chacham O, Moffett JR, Grunberg NE, Gahl WA, Namboodiri AM.

J Inherit Metab Dis. 2009 Oct;32(5):640-50. Epub 2009 Aug 15.PMID: 19685155 [PubMed - in process]Related articles

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA.

J Med Genet. 2009 Jul 1. [Epub ahead of print]PMID: 19574260 [PubMed - as supplied by publisher]Related articles

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.

Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA.

J Pediatr. 2009 Sep;155(3):386-92.e1. Epub 2009 Jun 21.PMID: 19540516 [PubMed - indexed for MEDLINE]Related articles

Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.

Stanescu H, Wolfsberg TG, Moreland RT, Ayub MH, Erickson E, Westbroek W, Huizing M, Gahl WA, Helip-Wooley A.

Ann Hum Genet. 2009 Jul;73(Pt 4):422-8.PMID: 19523149 [PubMed - indexed for MEDLINE]Related articles

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

Hermansky-Pudlak syndrome type 1 in patients of Indian descent.

Vincent LM, Adams D, Hess RA, Ziegler SG, Tsilou E, Golas G, O'Brien KJ, White JG, Huizing M, Gahl WA.

Mol Genet Metab. 2009 Jul;97(3):227-33. Epub 2009 Apr 2.PMID: 19398212 [PubMed - indexed for MEDLINE]Related articles

Hermansky-Pudlak syndrome in two African-American brothers.

Merideth MA, Vincent LM, Sparks SE, Hess RA, Manoli I, O'Brien KJ, Tsilou E, White JG, Huizing M, Gahl WA.

Am J Med Genet A. 2009 May;149A(5):987-92.PMID: 19334085 [PubMed - indexed for MEDLINE]Related articles

Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes.

Domingo DL, Trujillo MI, Council SE, Merideth MA, Gordon LB, Wu T, Introne WJ, Gahl WA, Hart TC.

Oral Dis. 2009 Apr;15(3):187-95. Epub 2009 Feb 19.PMID: 19236595 [PubMed - indexed for MEDLINE]Related articlesFree article

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF).

Turkbey B, Ocak I, Daryanani K, Font-Montgomery E, Lukose L, Bryant J, Tuchman M, Mohan P, Heller T, Gahl WA, Choyke PL, Gunay-Aygun M.

Pediatr Radiol. 2009 Feb;39(2):100-11. Epub 2008 Dec 17. Review.PMID: 19089418 [PubMed - indexed for MEDLINE]Related articles

Newborn screening for Wilson disease: does liquid chromatography-tandem mass spectrometry provide the solution?

Gahl WA.

Clin Chem. 2008 Dec;54(12):1941-2. No abstract available. PMID: 19042985 [PubMed - indexed for MEDLINE]Related articles

Chemical individuality: concept and outlook.

Gahl WA.

J Inherit Metab Dis. 2008 Oct;31(5):630-40. Epub 2008 Oct 7. Review.PMID: 18836888 [PubMed - indexed for MEDLINE]Related articles

Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.

Klootwijk RD, Savelkoul PJ, Ciccone C, Manoli I, Caplen NJ, Krasnewich DM, Gahl WA, Huizing M.

FASEB J. 2008 Nov;22(11):3846-52. Epub 2008 Jul 24.PMID: 18653764 [PubMed - indexed for MEDLINE]Related articlesFree article

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.

Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA.

Annu Rev Genomics Hum Genet. 2008;9:359-86. Review.PMID: 18544035 [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

Phenotype and course of Hutchinson-Gilford progeria syndrome.

Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ.

N Engl J Med. 2008 Feb 7;358(6):592-604.PMID: 18256394 [PubMed - indexed for MEDLINE]Related articlesFree article

An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.

Nazarian R, Huizing M, Helip-Wooley A, Starcevic M, Gahl WA, Dell'Angelica EC.

Mol Genet Metab. 2008 Feb;93(2):134-44. Epub 2007 Oct 22.PMID: 17933573 [PubMed - indexed for MEDLINE]Related articlesFree article

Proteomic analysis of platelet alpha-granules using mass spectrometry.

Maynard DM, Heijnen HF, Horne MK, White JG, Gahl WA.

J Thromb Haemost. 2007 Sep;5(9):1945-55.PMID: 17723134 [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

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

Galeano B, Klootwijk R, Manoli I, Sun M, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M.

J Clin Invest. 2007 Jun;117(6):1585-94.PMID: 17549255 [PubMed - indexed for MEDLINE]Related articlesFree article

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V.

Hum Mutat. 2007 Jul;28(7):732-8.PMID: 17377962 [PubMed - indexed for MEDLINE]Related articles

Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.

Huizing M, Parkes JM, Helip-Wooley A, White JG, Gahl WA.

Platelets. 2007 Mar;18(2):150-7.PMID: 17365864 [PubMed - indexed for MEDLINE]Related articles

Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.

Helip-Wooley A, Westbroek W, Dorward HM, Koshoffer A, Huizing M, Boissy RE, Gahl WA.

J Invest Dermatol. 2007 Jun;127(6):1471-8. Epub 2007 Feb 15.PMID: 17301833 [PubMed - indexed for MEDLINE]Related articlesFree article

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.

Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Harris-Love M, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas MC, Gahl WA.

BMC Neurol. 2007 Jan 29;7:3.PMID: 17261181 [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

The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules.

Chintala S, Tan J, Gautam R, Rusiniak ME, Guo X, Li W, Gahl WA, Huizing M, Spritz RA, Hutton S, Novak EK, Swank RT.

Blood. 2007 Feb 15;109(4):1533-40. Epub 2006 Oct 24.PMID: 17062724 [PubMed - indexed for MEDLINE]Related articlesFree article

Musculoskeletal findings and disability in alkaptonuria.

Perry MB, Suwannarat P, Furst GP, Gahl WA, Gerber LH.

J Rheumatol. 2006 Nov;33(11):2280-5. Epub 2006 Sep 15.PMID: 16981292 [PubMed - indexed for MEDLINE]Related articles

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

Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult.

Zhou M, Gradstein L, Gonzales JA, Tsilou ET, Gahl WA, Chan CC.

Arch Ophthalmol. 2006 Jul;124(7):1048-51. No abstract available. PMID: 16832032 [PubMed - indexed for MEDLINE]Related articlesFree article

Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy.

Savelkoul PJ, Manoli I, Sparks SE, Ciccone C, Gahl WA, Krasnewich DM, Huizing M.

Mol Genet Metab. 2006 Aug;88(4):389-90. Epub 2006 Jun 9. No abstract available. PMID: 16762577 [PubMed - indexed for MEDLINE]Related articles

Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy.

Tsilou ET, Rubin BI, Reed G, Caruso RC, Iwata F, Balog J, Gahl WA, Kaiser-Kupfer MI.

Ophthalmology. 2006 Jun;113(6):1002-9. Epub 2006 Apr 17.PMID: 16603246 [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

Engulfed.

Gahl WA.

Mol Genet Metab. 2006 Mar;87(3):190-3. Epub 2005 Dec 5.PMID: 16330232 [PubMed - indexed for MEDLINE]Related articles

Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome.

Lederer DJ, Kawut SM, Sonett JR, Vakiani E, Seward SL Jr, White JG, Wilt JS, Marboe CC, Gahl WA, Arcasoy SM.

J Heart Lung Transplant. 2005 Oct;24(10):1697-9.PMID: 16210149 [PubMed - indexed for MEDLINE]Related articles

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin.

Helip-Wooley A, Westbroek W, Dorward H, Mommaas M, Boissy RE, Gahl WA, Huizing M.

BMC Cell Biol. 2005 Sep 13;6:33.PMID: 16159387 [PubMed - indexed for MEDLINE]Related articlesFree article

Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy.

Gottlieb E, Ciccone C, Darvish D, Naiem-Cohen S, Dalakas MC, Savelkoul PJ, Krasnewich DM, Gahl WA, Huizing M.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):244-9.PMID: 16112887 [PubMed - indexed for MEDLINE]Related articles

Eye movement abnormalities in hermansky-pudlak syndrome.

Gradstein L, FitzGibbon EJ, Tsilou ET, Rubin BI, Huizing M, Gahl WA.

J AAPOS. 2005 Aug;9(4):369-78.PMID: 16102489 [PubMed - indexed for MEDLINE]Related articles

Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells.

Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, Sviderskaya EV, Bennett DC, Park YM, Gahl WA, Huizing M, Spritz RA, Ben S, Novak EK, Tan J, Swank RT.

Proc Natl Acad Sci U S A. 2005 Aug 2;102(31):10964-9. Epub 2005 Jul 21.PMID: 16037214 [PubMed - indexed for MEDLINE]Related articlesFree article

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

Sparks SE, Ciccone C, Lalor M, Orvisky E, Klootwijk R, Savelkoul PJ, Dalakas MC, Krasnewich DM, Gahl WA, Huizing M.

Glycobiology. 2005 Nov;15(11):1102-10. Epub 2005 Jun 29.PMID: 15987957 [PubMed - indexed for MEDLINE]Related articlesFree article

Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR.

Griffin AE, Cobb BR, Anderson PD, Claassen DA, Helip-Wooley A, Huizing M, Gahl WA.

Clin Genet. 2005 Jul;68(1):23-30.PMID: 15952982 [PubMed - indexed for MEDLINE]Related articles

Use of nitisinone in patients with alkaptonuria.

Suwannarat P, O'Brien K, Perry MB, Sebring N, Bernardini I, Kaiser-Kupfer MI, Rubin BI, Tsilou E, Gerber LH, Gahl WA.

Metabolism. 2005 Jun;54(6):719-28.PMID: 15931605 [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