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36篇 您的检索式:作者名="Wraith JE"
    题名 作者 年代 出处 被引量
1Detection of inborn errors of metabolism in the newborn 显示文摘Charkrapani A Cleary MA Wraith JE 2001Arch Dis Child Fetal Neonatal Ed2001,84,3:1
2Limitations of enzyme replacement therapy: current and future 显示文摘Wraith JE 2006J Inherit Metab Dis2006,29,23:1
3Enzyme repot therapy for mucopolysaccharidosis Ⅰ: a randomized, double-blinded, placebocontrolled, multinational study of recombinant human α-L-iduronidase (laronidase) 显示文摘Wraith JE Clarke LA Beck M 2004J Pediatr2004,144,5:1
4A phase Ⅱ/Ⅲ clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidods Ⅱ ( Hunter syndrome) 显示文摘Muenzer J Wraith JE Beck M 2006Genet Med2006,8,8:1
5Detection of inborn errors of metabolism in the newborn 显示文摘Chakrapani A Cleary MA Wraith JE 2001Arch Dis Child Fetal Neonatal2001,84,3:1
6Long-term efficacy and safety of laromidase in the treatment of mucopolysaeeharidosis 显示文摘Clarke LA Wraith JE Beck M 2009I Pediatrics2009,123,1:1
7Mucopolysaccharidosis I management and treatment guidelines 显示文摘Muenzer J Wraith JE Clarke LA 2009Pediatrics2009,123,:1
8Magnetic resonance imaging in phenylketonuria : Reversal of cerebral white matter changes 显示文摘Cleary MA Walter JH Wraith JE 1995J Pediatr1995,127,2:1
9A phase Ⅱ / Ⅲ clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis Ⅱ(Hunter syndrome) 显示文摘Muenzer J Wraith JE Beck M 2006Genet Med2006,8,8:1
10Magnetic resonance imaging of the brain in phenylketonuria显示文摘Cleary MA Walter JH Wraith JE Jenkins JP Alani SM Tyler K 1994Lancet1994,344,8915:1
11Detection of inborn errors of metabolism in the newborn 显示文摘Chakrapani A Cleary MA Wraith JE 2001Arch Dis Child Fetal Neonatal2001,84,3:1
12Juvenile Sandhoff disease--nine new cases and a review of the literature显示文摘Hendriksz C J Corry PC Wraith JE 2004J Inherit Metab Dis2004,27,:1
13Recommendations on the diagnosis and management of Niemann-Pick disease type C显示文摘Wraith JE Baumgartner MR Bembi B 2009Mol Genet Metab2009,98,12:1
14Haematopoietic cell transplantation (HCT)in combination with enzyme replacement therapy(ERT) in patients with Hurler syndrome显示文摘Cox-Brinkman J Boelens JJ Wraith JE 2006Bone Marrow Transplant2006,38,1:1
15Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome(mucopolysaccharidoses type Ⅱ)显示文摘Parsons V J Hughes DG Wraith JE 1996Clin Radiol1996,51,:1
16Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations显示文摘Wraith JE Sedel F Pineda M 2014Inherit Metab Dis2014,37,1:1
17Detection of inborn errors of metabolism in the newborn 显示文摘Charkrapani A Cleary MA Wraith JE 2001Arch Dis Child Fetal Neonatal Ed2001,84,3:1
18Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial显示文摘Wraith JE Vecchio D Jacklin E 2010Mol Genet Metab2010,99,4:1
19Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type Ⅱ显示文摘Wraith JE 2008Acta Paediatr Suppl2008,97,457:1
20Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study显示文摘Pineda M Wraith JE Mengel E 2009Mol Genet Metab2009,98,3:1
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