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There are 129251 results for: content related to: Skin rash with the histological absence of metachromatic granules as the presenting feature of Hunter syndrome in a 6-year-old boy

  1. A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 12, December 2010, Pages: 3129–3132, Young Bae Sohn, Su Jin Kim, Sung Won Park, Hyung-Doo Park, Chang-Seok Ki, Chi Hwa Kim, Seung Won Huh, Sunghee Yeau, Kyung-Hoon Paik and Dong-Kyu Jin

    Version of Record online : 24 NOV 2010, DOI: 10.1002/ajmg.a.33589

  2. Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients

    Journal of the European Academy of Dermatology and Venereology

    Volume 21, Issue 8, September 2007, Pages: 1082–1085, T Ochiai, Y Suzuki, T Kato, H Shichino, M Chin, H Mugishima and T Orii

    Version of Record online : 25 MAY 2007, DOI: 10.1111/j.1468-3083.2007.02203.x

  3. Disorders of Lysosomal Enzymes: Clinical Phenotypes

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Peter M. Royce, Beat Steinmann, Pages: 849–899, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch22(ii)

  4. MUCOPOLYSACCHARIDOSIS DISORDERS

    Acta Paediatrica

    Volume 97, Issue s457, April 2008, Pages: 97–105,

    Version of Record online : 13 MAR 2008, DOI: 10.1111/j.1651-2227.2008.00657_1.x

  5. TREATMENT OPTIONS FOR MUCOPOLYSACCHARIDOSIS TYPE II (HUNTER'S SYNDROME)

    Enzyme Technologies: Pluripotent Players in Discovering Therapeutic Agents

    Hsiu-Chiung Yang, Wu-Kuang Yeh, James R. McCarthy, Pages: 301–319, 2013

    Published Online : 6 DEC 2013, DOI: 10.1002/9781118739907.ch8

  6. Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line

    Prenatal Diagnosis

    Volume 31, Issue 9, September 2011, Pages: 853–860, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Baruch Brooks, Irit Varshaver, Mical Avitzour, Ehud J. Margalioth, Ephrat Levy-Lahad, Deborah Elstein, Silvina Epsztejn-Litman and Rachel Eiges

    Version of Record online : 27 JUN 2011, DOI: 10.1002/pd.2786

  7. Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)

    Intervention Review

    The Cochrane Library

    Edina MK da Silva, Maria Wany Louzada Strufaldi, Regis B Andriolo and Laercio A Silva

    Published Online : 5 FEB 2016, DOI: 10.1002/14651858.CD008185.pub4

  8. Whole-exome sequencing expands the phenotype of Hunter syndrome

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 172–176, S.M. Nikkel, L. Huang, R. Lachman, C.L. Beaulieu, J. Schwartzentruber, FORGE Canada Consortium, J. Majewski, M.T. Geraghty and K.M. Boycott

    Version of Record online : 28 JUL 2013, DOI: 10.1111/cge.12236

  9. Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation

    American Journal of Medical Genetics

    Volume 64, Issue 4, 6 September 1996, Pages: 531–535, Peining Li, Jerry N. Thompson, George Hug, Paula Huffman and Gail Chuck

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960906)64:4<531::AID-AJMG1>3.0.CO;2-S

  10. Skin eruption as the presenting sign of Hunter syndrome IIB

    Clinical and Experimental Dermatology

    Volume 24, Issue 3, May 1999, Pages: 179–182, Demitsu, Kakurai, Okubo, Shibayama, Kikuchi, Mori, Sukegawa and Mizuguchi

    Version of Record online : 25 DEC 2001, DOI: 10.1046/j.1365-2230.1999.00448.x

  11. The reliability of death certification in patients dying with mucopolysaccharidosis type II (Hunter syndrome)

    Clinical Genetics

    Volume 79, Issue 6, June 2011, Pages: 599–600, D Seshadri, S Jones, K Burt, L Lavery and JE Wraith

    Version of Record online : 5 MAY 2011, DOI: 10.1111/j.1399-0004.2010.01597.x

  12. Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II

    Clinical Genetics

    Volume 81, Issue 2, February 2012, Pages: 185–190, YB Sohn, C-S Ki, C-H Kim, A-R Ko, Y-J Yook, S-J Lee, SJ Kim, SW Park, S Yeau, E-K Kwon, SJ Han, EW Choi, S-Y Lee, J-W Kim and D-K Jin

    Version of Record online : 24 FEB 2011, DOI: 10.1111/j.1399-0004.2011.01641.x

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    Corrigendum

    Vol. 82, Issue 3, 300, Version of Record online: 12 AUG 2012

  13. You have free access to this content
    Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene

    Human Mutation

    Volume 18, Issue 2, August 2001, Pages: 164–165, Mirella Filocamo, Gloria Bonuccelli, Fabio Corsolini, Raffaella Mazzotti, Roberto Cusano and Rosanna Gatti

    Version of Record online : 13 JUL 2001, DOI: 10.1002/humu.1169

  14. Cardiac Involvement in the Mucopolysaccharide Disorders

    Pediatric Cardiovascular Medicine, Second Edition

    James H. Moller, Julien I. E. Hoffman, Pages: 982–991, 2012

    Published Online : 13 JAN 2012, DOI: 10.1002/9781444398786.ch68

  15. Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report

    Acta Paediatrica

    Volume 91, Issue s439, November 2002, Pages: 98–99, J Muenzer, JC Lamsa, A Garcia, J Dacosta, J Garcia and DA Treco

    Version of Record online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2002.tb03118.x

  16. High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome)

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1329–1335, Jeong-Yi Kwon, Kiljun Ko, Young Bae Sohn, Su Jin Kim, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho and Dong-Kyu Jin

    Version of Record online : 12 MAY 2011, DOI: 10.1002/ajmg.a.34013

  17. Administration of iduronate sulfatase by plasma exchange to patients with the hunter syndrome: A clinical study

    American Journal of Medical Genetics

    Volume 13, Issue 3, November 1982, Pages: 309–318, Dr. Frank R. Brown III, Clara W. Hall, Elizabeth F. Neufeld, Louis L. Munoz, Hayden Braine, Stanley Andrzejewski, Edwaldo E. Camargo, Shirley A. Mark, James M. Richard, Hugo W. Moser and Jürgen Herrmann

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320130314

  18. A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses

    Pediatric Anesthesia

    Volume 22, Issue 8, August 2012, Pages: 737–744, Geoff Frawley, Daniella Fuenzalida, Susan Donath, Joy Yaplito-Lee and Heidi Peters

    Version of Record online : 2 MAR 2012, DOI: 10.1111/j.1460-9592.2012.03825.x

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    Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: Characterisation of 6 novel mutations

    Human Mutation

    Volume 14, Issue 1, 1999, Page: 87, Catherine Hartog, Alan Fryer and Meena Upadhyaya

    Version of Record online : 1 JUL 1999, DOI: 10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU14>3.0.CO;2-N

  20. FABRY DISEASE

    Acta Paediatrica

    Volume 97, Issue s457, April 2008, Pages: 106–113,

    Version of Record online : 13 MAR 2008, DOI: 10.1111/j.1651-2227.2008.00657_2.x