References
- BaehnerFSchmiedeskampCKrummenauerF2005Cumulative incidence rates of the mucopolysaccharidoses in GermanyJ Inherit Metab Dis281011716435194
- BeckMColeG1984Disc oedema in association with Hunter’s syndrome: ocular histopathological findingsBr J Ophthalmol6859046430340
- BhattacharyaKGibsonSCPathiVL2005Mitral valve replacement for mitral stenosis secondary to Hunter’s syndromeAnn Thorac Surg801911216242483
- BurrowTAHopkinRJLeslieND2007Enzyme reconstitution/replacement therapy for lysosomal storage diseasesCurr Opin Pediatr196283518025928
- CardoneMPolitoVAPepeS2006Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene deliveryHum Mol Genet1512253616505002
- CoppaGVGabrielliOZampiniL1995Bone marrow transplantation in Hunter syndromeJ Inherit Metab Dis189127623456
- CoxTLachmannRHollakC2000Novel oral treatment of Gaucher’s disease with N-butyldeoxynojirimycin OGT 918. to decrease substrate biosynthesisLancet3551481510801168
- DangelJH1998Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders – clinical and echocardiographic findings in 64 patientsEur J Pediatr15753489686810
- DicksonPMcEnteeMVoglerC2007Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluidMol Genet Metab9161817321776
- DierksTSchmidtBBorissenkoLV2003Multiple sulfatase deficiency is caused by mutations in the gene encoding the human Calpha.-formylglycine generating enzymeCell1134354412757705
- ElsnerB1970Ultrastructure of the rectal wall in Hunter’s syndromeGastroenterology58856624246486
- ElsteinDHollakCAertsJM2004Sustained therapeutic effects of oral miglustat Zavesca, N-butyldeoxynojirimycin, OGT 918. in type I Gaucher diseaseJ Inherit Metab Dis277576615505381
- FrisoATomaninRAlbaS2005Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblastsJ Gene Med714829115966019
- FroissartRDa SilvaIMMaireI2007Mucopolysaccharidosis type II: an update on mutation spectrumActa Paediatr Suppl9671717391447
- FroissartRMaireIMillatG1998Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patientsClin Genet5336289660053
- FroissartRMoreira Da SilvaIGuffonN2002Mucopolysaccharidosis type II – genotype/phenotype aspectsActa Paediatr Suppl9182712572848
- GarciaARDacostaJMPanJ2007aPreclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS IIMol Genet Metab911839017459751
- GarciaARPanJLamsaJC2007bThe characterization of a murine model of mucopolysaccharidosis II Hunter syndromeJ Inherit Metab Dis309243417876721
- HaddadFSJonesDHVellodiA1997Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidosesJ Bone Joint Surg Br79576829250742
- HongYYuSSKimJM2003Construction of a high efficiency retroviral vector for gene therapy of Hunter’s syndromeJ Gene Med5182912516048
- HopwoodJJBungeSMorrisCP1993Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase geneHum Mutat2435428111411
- KrawczakMCooperDN1997The human gene mutation databaseTrends Genet1312129066272
- McKinnisEJSulzbacherSRutledgeJC1996Bone marrow transplantation in Hunter syndromeJ Pediatr12914588757575
- MohanURHayAAClearyMA2002Cardiovascular changes in children with mucopolysaccharide disordersActa Paediatr9179980412200906
- MuenzerJGucsavas-CalikogluMMcCandlessSE2007A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II Hunter syndromeMol Genet Metab903293717185020
- MuenzerJLamsaJCGarciaA2002Enzyme replacement therapy in mucopolysaccharidosis type II Hunter syndrome.: a preliminary reportActa Paediatr Suppl9198912572850
- MuenzerJWraithJEBeckM2006A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II Hunter syndromeGenet Med84657316912578
- MullenCAThompsonJNRichardLA2000Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB Hunter syndrome. complicated by autoimmune hemolytic anemiaBone Marrow Transplant251093710828871
- NeufeldEFMuenzerJ2001The mucopolysaccharidosesScriverCRBeaudetAlSlyWSThe metabolic and molecular basis of inherited disease8th edNew YorkMcGraw-Hill
- O’BrienDPCowieRAWraithJE1997Cervical decompression in mild mucopolysaccharidosis type II Hunter syndromeChilds Nerv Syst1387909105743
- ParsonsVJHughesDGWraithJE1996Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter’s syndrome mucopolysaccharidoses type IIClin Radiol51719238893643
- PoorthuisBJWeversRAKleijerWJ1999The frequency of lysosomal storage diseases in The NetherlandsHum Genet105151610480370
- RathmannMBungeSBeckM1996Mucopolysaccharidosis type II Hunter syndrome: mutation “hot spots” in the iduronate-2-sulfatase geneAm J Hum Genet59120298940265
- SchwartzIVRibeiroMGMotaJG2007A clinical study of 77 patients with mucopolysaccharidosis type IIActa Paediatr Suppl96637017391446
- ShapiroEGLockmanLABalthazorM1995Neuropsychological outcomes of several storage diseases with and without bone marrow transplantationJ Inherit Metab Dis18413297494400
- SprangerJWBrillPWPoznanskiA2002Bone dysplasias: An atlas of genetic disorders of skeletal developmentNew York, NYOxford University Press
- StensonPDBallEVMortM2003Human Gene Mutation Database HGMD.: 2003 updateHum Mutat215778112754702
- StroncekDFHubelAShankarRA1999Retroviral transduction and expansion of peripheral blood lymphocytes for the treatment of mucopolysaccharidosis type II, Hunter’s syndromeTransfusion393435010220258
- TuschlKGalAPaschkeE2005Mucopolysaccharidosis type II in females: case report and review of literaturePediatr Neurol32270215797184
- VafiadakiECooperAHeptinstallLE1998Mutation analysis in 57 unrelated patients with MPS II Hunter’s diseaseArch Dis Child79237419875019
- VellodiAYoungECooperA1999Long-term follow-up following bone marrow transplantation for Hunter diseaseJ Inherit Metab Dis226384810399096
- WilsonPJMorrisCPAnsonDS1990Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNAProc Natl Acad Sci USA87853152122463
- WraithJEBurtonBKMuenzerJ2007Clinical characteristics of patients with mucopolysaccharidosis type II: The Hunter Outcome Survey HOS. [abstract 1488]Presented at the annual meeting of The American Society of Human GeneticsOctober 25, 2007San Diego, CaliforniaURL: http://www.ashg.org/genetics/ashg06s/index.shtml
- WraithJEScarpaMBeckM2008Mucopolysaccharidosis type II Hunter syndrome.: a clinical review and recommendations for treatment in the era of enzyme replacement therapyEur J Pediatr1672677718038146
- YoungIDHarperPS1981Psychosocial problems in Hunter’s syndromeChild Care Health Dev720196793262
- YoungIDHarperPS1982Mild form of Hunter’s syndrome: clinical delineation based on 31 casesArch Dis Child57828366816147
- YoungIDHarperPS1983The natural history of the severe form of Hunter’s syndrome: a study based on 52 casesDev Med Child Neurol2548196413286
- YoungIDHarperPSNewcombeRG1982A clinical and genetic study of Hunter’s syndrome. 2. Differences between the mild and severe formsJ Med Genet19408116818348
- YuZSawkarARKellyJW2007aPharmacologic chaperoning as a strategy to treat Gaucher diseaseFebs J27449445017894779
- YuZSawkarARWhalenLJ2007bIsofagomine- and 2,5-anhydro-2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease interventionJ Med Chem509410017201413