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    Results: 1 to 50 of 443

    1.

    Feline Acute Intermittent Porphyria: A phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

    Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ.

    Hum Mol Genet. 2009 Nov 24. [Epub ahead of print]PMID: 19934113 [PubMed - as supplied by publisher]

    2.

    AAV8-mediated Gene Therapy Prevents Induced Biochemical Attacks of Acute Intermittent Porphyria and Improves Neuromotor Function.

    Yasuda M, Bishop DF, Fowkes M, Cheng SH, Gan L, Desnick RJ.

    Mol Ther. 2009 Oct 27. [Epub ahead of print]PMID: 19861948 [PubMed - as supplied by publisher]Related articles

    3.

    The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease.

    Khanna R, Soska R, Lun Y, Feng J, Frascella M, Young B, Brignol N, Pellegrino L, Sitaraman SA, Desnick RJ, Benjamin ER, Lockhart DJ, Valenzano KJ.

    Mol Ther. 2009 Sep 22. [Epub ahead of print]PMID: 19773742 [PubMed - as supplied by publisher]Related articles

    4.

    Use of complementary and alternative medicine by patients with lysosomal storage diseases.

    Balwani M, Fuerstman L, Desnick RJ, Buckley B, McGovern MM.

    Genet Med. 2009 Oct;11(10):722-7.PMID: 19745751 [PubMed - in process]Related articles

    5.

    CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing.

    Scott SA, Jaremko M, Lubitz SA, Kornreich R, Halperin JL, Desnick RJ.

    Pharmacogenomics. 2009 Aug;10(8):1243-55.PMID: 19663669 [PubMed - in process]Related articles

    6.

    Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

    Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, Yeh HY, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW.

    Hum Mutat. 2009 Oct;30(10):1397-405.PMID: 19621417 [PubMed - in process]Related articlesFree article

    7.

    The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.

    Benjamin ER, Flanagan JJ, Schilling A, Chang HH, Agarwal L, Katz E, Wu X, Pine C, Wustman B, Desnick RJ, Lockhart DJ, Valenzano KJ.

    J Inherit Metab Dis. 2009 Jun;32(3):424-40. Epub 2009 Apr 18.PMID: 19387866 [PubMed - indexed for MEDLINE]Related articles

    8.

    Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.

    Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ.

    Nephrol Dial Transplant. 2009 Jul;24(7):2102-11. Epub 2009 Feb 13.PMID: 19218538 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

    McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot G, Desnick RJ, Kuriyama N, Cox GF.

    Pediatrics. 2008 Aug;122(2):e341-9. Epub 2008 Jul 14.PMID: 18625664 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.

    Scott SA, Edelmann L, Kornreich R, Desnick RJ.

    Am J Hum Genet. 2008 Feb;82(2):495-500. Epub 2008 Jan 17.PMID: 18252229 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population.

    Scott SA, Edelmann L, Kornreich R, Erazo M, Desnick RJ.

    Pharmacogenomics. 2007 Jul;8(7):721-30.PMID: 18240905 [PubMed - indexed for MEDLINE]Related articles

    12.

    Human uroporphyrinogen III synthase: NMR-based mapping of the active site.

    Cunha L, Kuti M, Bishop DF, Mezei M, Zeng L, Zhou MM, Desnick RJ.

    Proteins. 2008 May 1;71(2):855-73.PMID: 18004775 [PubMed - indexed for MEDLINE]Related articles

    13.

    Acute intermittent porphyria: vector optimization for gene therapy.

    Yasuda M, Domaradzki ME, Armentano D, Cheng SH, Bishop DF, Desnick RJ.

    J Gene Med. 2007 Sep;9(9):806-11.PMID: 17654633 [PubMed - indexed for MEDLINE]Related articles

    14.

    Prenatal diagnosis of Fabry disease.

    Desnick RJ.

    Prenat Diagn. 2007 Aug;27(8):693-4. Review. No abstract available. PMID: 17533632 [PubMed - indexed for MEDLINE]Related articles

    15.

    Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.

    Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ.

    Hum Mutat. 2007 Sep;28(9):866-73.PMID: 17464953 [PubMed - indexed for MEDLINE]Related articles

    16.

    Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.

    Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N.

    J Am Soc Nephrol. 2007 May;18(5):1547-57. Epub 2007 Apr 4.PMID: 17409312 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy.

    Desnick RJ, Banikazemi M.

    Nephrol Ther. 2006 Jan;2 Suppl 2:S172-85.PMID: 17373219 [PubMed - indexed for MEDLINE]Related articles

    18.

    Correction of the biochemical and functional deficits in fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A.

    Ziegler RJ, Cherry M, Barbon CM, Li C, Bercury SD, Armentano D, Desnick RJ, Cheng SH.

    Mol Ther. 2007 Mar;15(3):492-500. Epub 2006 Dec 26.PMID: 17191071 [PubMed - indexed for MEDLINE]Related articles

    19.

    Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.

    Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ; Fabry Disease Clinical Trial Study Group.

    Ann Intern Med. 2007 Jan 16;146(2):77-86. Epub 2006 Dec 18.PMID: 17179052 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.

    Wasserstein MP, Aron A, Brodie SE, Simonaro C, Desnick RJ, McGovern MM.

    J Pediatr. 2006 Oct;149(4):554-9.PMID: 17011332 [PubMed - indexed for MEDLINE]Related articles

    21.

    Does enzyme replacement therapy improve symptoms of Fabry disease in patients undergoing dialysis?

    Banikazemi M, Desnick RJ.

    Nat Clin Pract Nephrol. 2006 Feb;2(2):72-3. No abstract available. PMID: 16932395 [PubMed - indexed for MEDLINE]Related articles

    22.

    High incidence of later-onset fabry disease revealed by newborn screening.

    Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ.

    Am J Hum Genet. 2006 Jul;79(1):31-40. Epub 2006 Apr 28.PMID: 16773563 [PubMed - indexed for MEDLINE]Related articlesFree article

    23.

    Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

    Shabbeer J, Yasuda M, Benson SD, Desnick RJ.

    Hum Genomics. 2006 Mar;2(5):297-309.PMID: 16595074 [PubMed - indexed for MEDLINE]Related articles

    24.

    Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome.

    Nance CS, Klein CJ, Banikazemi M, Dikman SH, Phelps RG, McArthur JC, Rodriguez M, Desnick RJ.

    Arch Neurol. 2006 Mar;63(3):453-7.PMID: 16533976 [PubMed - indexed for MEDLINE]Related articlesFree article

    25.

    Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.

    Bishop DF, Johansson A, Phelps R, Shady AA, Ramirez MC, Yasuda M, Caro A, Desnick RJ.

    Am J Hum Genet. 2006 Apr;78(4):645-58. Epub 2006 Feb 9.PMID: 16532394 [PubMed - indexed for MEDLINE]Related articlesFree article

    26.

    Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.

    Laradi S, Tukel T, Erazo M, Shabbeer J, Chkioua L, Khedhiri S, Ferchichi S, Chaabouni M, Miled A, Desnick RJ.

    J Inherit Metab Dis. 2005;28(6):1019-26.PMID: 16435195 [PubMed - indexed for MEDLINE]Related articles

    27.

    Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.

    McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP.

    Neurology. 2006 Jan 24;66(2):228-32.PMID: 16434659 [PubMed - indexed for MEDLINE]Related articles

    28.

    Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.

    Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ.

    Mol Genet Metab. 2006 Mar;87(3):213-8.PMID: 16378744 [PubMed - indexed for MEDLINE]Related articles

    29.

    Two brothers with mild congenital erythropoietic porphyria due to a novel genotype.

    Berry AA, Desnick RJ, Astrin KH, Shabbeer J, Lucky AW, Lim HW.

    Arch Dermatol. 2005 Dec;141(12):1575-9.PMID: 16365260 [PubMed - indexed for MEDLINE]Related articlesFree article

    30.

    Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing.

    Mendelson DS, Wasserstein MP, Desnick RJ, Glass R, Simpson W, Skloot G, Vanier M, Bembi B, Giugliani R, Mengel E, Cox GF, McGovern MM.

    Radiology. 2006 Jan;238(1):339-45. Epub 2005 Nov 22.PMID: 16304086 [PubMed - indexed for MEDLINE]Related articlesFree article

    31.

    AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease.

    Barbon CM, Ziegler RJ, Li C, Armentano D, Cherry M, Desnick RJ, Schuchman EH, Cheng SH.

    Mol Ther. 2005 Sep;12(3):431-40.PMID: 16099409 [PubMed - indexed for MEDLINE]Related articles

    32.

    Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy.

    Banikazemi M, Ullman T, Desnick RJ.

    Mol Genet Metab. 2005 Aug;85(4):255-9.PMID: 15939645 [PubMed - indexed for MEDLINE]Related articles

    33.

    A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.

    Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin SH, Hennies HC, Nurnberg P, Desnick RJ, Wollnik B.

    J Med Genet. 2005 May;42(5):408-15. Erratum in: J Med Genet. 2005 Nov;42(11):862. PMID: 15863670 [PubMed - indexed for MEDLINE]Related articlesFree article

    34.

    Fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male.

    Magage S, Linhart A, Bultas J, Vojacek J, Mates M, Palecek T, Popelová J, Tintera J, Aschermann M, Goldman ME, Desnick RJ.

    Echocardiography. 2005 Apr;22(4):333-9.PMID: 15839990 [PubMed - indexed for MEDLINE]Related articles

    35.

    Fabry disease. A case report.

    Kotnik J, Kotnik F, Desnick RJ.

    Acta Dermatovenerol Alp Panonica Adriat. 2005 Mar;14(1):15-9.PMID: 15818441 [PubMed - indexed for MEDLINE]Related articlesFree article

    36.

    Recommendations for the diagnosis and treatment of the acute porphyrias.

    Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ.

    Ann Intern Med. 2005 Mar 15;142(6):439-50. Review. Erratum in: Ann Intern Med. 2005 Aug 16;143(4):316. PMID: 15767622 [PubMed - indexed for MEDLINE]Related articlesFree article

    37.

    Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

    Shabbeer J, Robinson M, Desnick RJ.

    Hum Mutat. 2005 Mar;25(3):299-305.PMID: 15712228 [PubMed - indexed for MEDLINE]Related articles

    38.

    The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.

    Wasserstein MP, Desnick RJ, Schuchman EH, Hossain S, Wallenstein S, Lamm C, McGovern MM.

    Pediatrics. 2004 Dec;114(6):e672-7. Epub 2004 Nov 15.PMID: 15545621 [PubMed - indexed for MEDLINE]Related articlesFree article

    39.

    Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.

    Solis C, Martinez-Bermejo A, Naidich TP, Kaufmann WE, Astrin KH, Bishop DF, Desnick RJ.

    Arch Neurol. 2004 Nov;61(11):1764-70.PMID: 15534187 [PubMed - indexed for MEDLINE]Related articlesFree article

    40.

    Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology.

    Edelmann L, Hashmi G, Song Y, Han Y, Kornreich R, Desnick RJ.

    Genet Med. 2004 Sep-Oct;6(5):431-8.PMID: 15371909 [PubMed - indexed for MEDLINE]Related articles

    41.

    Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.

    Kornreich R, Ekstein J, Edelmann L, Desnick RJ.

    Genet Med. 2004 Sep-Oct;6(5):415-20.PMID: 15371906 [PubMed - indexed for MEDLINE]Related articles

    42.

    Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.

    Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW.

    Genet Med. 2004 Sep-Oct;6(5):387-91. No abstract available. Erratum in: Genet Med. 2004 Nov-Dec;6(6):548. Genet Med. 2005 Apr;7(4):286. PMID: 15371902 [PubMed - indexed for MEDLINE]Related articles

    43.

    Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval.

    Desnick RJ.

    Expert Opin Biol Ther. 2004 Jul;4(7):1167-76. Review.PMID: 15268683 [PubMed - indexed for MEDLINE]Related articles

    44.

    Lipid abnormalities in children with types A and B Niemann Pick disease.

    McGovern MM, Pohl-Worgall T, Deckelbaum RJ, Simpson W, Mendelson D, Desnick RJ, Schuchman EH, Wasserstein MP.

    J Pediatr. 2004 Jul;145(1):77-81.PMID: 15238911 [PubMed - indexed for MEDLINE]Related articles

    45.

    Ocular manifestations of Niemann-Pick disease type B.

    McGovern MM, Wasserstein MP, Aron A, Desnick RJ, Schuchman EH, Brodie SE.

    Ophthalmology. 2004 Jul;111(7):1424-7.PMID: 15234149 [PubMed - indexed for MEDLINE]Related articles

    46.

    Enzyme replacement and enhancement therapies for lysosomal diseases.

    Desnick RJ.

    J Inherit Metab Dis. 2004;27(3):385-410. Review.PMID: 15190196 [PubMed - indexed for MEDLINE]Related articles

    47.

    Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.

    Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP; International Fabry Disease Study Group.

    Am J Hum Genet. 2004 Jul;75(1):65-74. Epub 2004 May 20.PMID: 15154115 [PubMed - indexed for MEDLINE]Related articlesFree article

    48.

    Fabry disease in childhood.

    Desnick RJ, Brady RO.

    J Pediatr. 2004 May;144(5 Suppl):S20-6. Review. No abstract available. PMID: 15126980 [PubMed - indexed for MEDLINE]Related articles

    49.

    Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.

    Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M, Desnick RJ.

    J Comput Assist Tomogr. 2004 Mar-Apr;28(2):158-68.PMID: 15091117 [PubMed - indexed for MEDLINE]Related articles

    50.

    Gene symbol: HMBS. Disease: Acute intermittent porphyria.

    Solis CS, Lopez-Echaniz I, Sefarty-Graneda D, Astrin KH, Desnick RJ.

    Hum Genet. 2004 Mar;114(4):402. No abstract available. PMID: 15046057 [PubMed - indexed for MEDLINE]Related articles

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