Mucopolysaccharidoses and the eye.

[1]  J. Wraith,et al.  Mucopolysaccharidosis type IVA (morquio syndrome): A clinical review , 1996, Journal of Inherited Metabolic Disease.

[2]  G. Repetto,et al.  Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate , 2004, Journal of Human Genetics.

[3]  W. Sly,et al.  Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N‐acetylgalactosamine‐6‐sulfate sulfatase (GALNS) gene in Italian patients , 2004, Human mutation.

[4]  C. Vite,et al.  Gene therapy for lysosomal storage diseases: the lessons and promise of animal models , 2004, The journal of gene medicine.

[5]  E. Neufeld Enzyme replacement therapy , 2004 .

[6]  C. Beesley,et al.  Sanfilippo B syndrome: molecular defects in Greek patients , 2004, Clinical genetics.

[7]  J. E. Wraith Enzyme replacement therapy in mucopolysaccharidosis type I: Progress and emerging difficulties , 2001, Journal of Inherited Metabolic Disease.

[8]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[9]  E. Young,et al.  Long-term follow-up following bone marrow transplantation for Hunter disease , 1999, Journal of Inherited Metabolic Disease.

[10]  R. Lowry,et al.  An update on the frequency of mucopolysaccharide syndromes in British Columbia , 1990, Human Genetics.

[11]  M. Iwamoto,et al.  Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A) , 1990, Graefe's Archive for Clinical and Experimental Ophthalmology.

[12]  I. Süveges Histological and ultrastructural studies of the cornea in Maroteaux-Lamy syndrome , 1979, Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie.

[13]  I. Liebaers,et al.  Mucopolysaccharidosis II (Hunter disease) with corneal opacities , 1978, European Journal of Pediatrics.

[14]  A. Federico,et al.  Sanfilippo B syndrome (MPS III B): Case report with analysis of CSF mucopolysaccharides and conjunctival biopsy , 2004, Journal of Neurology.

[15]  G. Cox,et al.  Can mucopolysaccharidosis type I disease severity be predicted based on a patient’s genotype? A comprehensive review of the literature , 2003, Genetics in Medicine.

[16]  I. Kaitila,et al.  Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype , 2003, Human Genetics.

[17]  M. Sands,et al.  Intravitreal Gene Therapy Reduces Lysosomal Storage in Specific Areas of the CNS in Mucopolysaccharidosis VII Mice , 2003, The Journal of Neuroscience.

[18]  T. Okuyama,et al.  Long-term normalization in the central nervous system, ocular manifestations, and skeletal deformities by a single systemic adenovirus injection into neonatal mice with mucopolysaccharidosis VII , 2003, Gene Therapy.

[19]  C. McGhee,et al.  In Vivo Microstructural Analysis of the Cornea in Scheie's Syndrome , 2003, Cornea.

[20]  U. Giger,et al.  Animal models for mucopolysaccharidoses and their clinical relevance , 2002, Acta paediatrica (Oslo, Norway : 1992). Supplement.

[21]  G. Aguirre,et al.  Phenotypic rescue after adeno‐associated virus‐mediated delivery of 4‐sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI , 2002, The journal of gene medicine.

[22]  A. Viestenz,et al.  Okuläre Manifestation bei Mukopolysaccharidose I-S (Scheie-Syndrom) , 2002 .

[23]  G. Aguirre,et al.  Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[24]  Y. Tano,et al.  Multiple iridociliary cysts in patients with mucopolysaccharidoses , 2002, The British journal of ophthalmology.

[25]  J. Wraith,et al.  Cardiovascular changes in children with mucopolysaccharide disorders , 2002, Acta paediatrica.

[26]  S. Akhtar,et al.  Clinical and morphological features including expression of βig-h3 and keratan sulphate proteoglycans in Maroteaux-Lamy syndrome type B and in normal cornea , 2002, The British journal of ophthalmology.

[27]  T. Okuyama,et al.  Adenovirus-mediated gene therapy for corneal clouding in mice with mucopolysaccharidosis type VII. , 2001, Molecular therapy : the journal of the American Society of Gene Therapy.

[28]  S. Brodie,et al.  Long-term follow-up of corneal graft survival following bone marrow transplantation in the Maroteaux-Lamy syndrome. , 2001, The CLAO journal : official publication of the Contact Lens Association of Ophthalmologists, Inc.

[29]  M. Sands,et al.  Prevention of systemic clinical disease in MPS VII mice following AAV-mediated neonatal gene transfer , 2001, Gene Therapy.

[30]  B. Papsin,et al.  Disordered breathing during sleep in patients with mucopolysaccharidoses. , 2001, International journal of pediatric otorhinolaryngology.

[31]  D. de Freitas,et al.  Findings in the Anterior Segment on Ultrasound Biomicroscopy in Maroteaux–Lamy Syndrome , 2001, Cornea.

[32]  J. Belmont,et al.  Enzyme-replacement therapy in mucopolysaccharidosis I. , 2001, The New England journal of medicine.

[33]  M. E. Verdugo,et al.  Adenoviral vector-mediated ß-glucuronidase cDNA transfer to treat MPS VII RPE in vitro , 2001, Current Eye Research.

[34]  M. Sands,et al.  Retinal function is improved in a murine model of a lysosomal storage disease following bone marrow transplantation. , 2000, Experimental eye research.

[35]  B. Glasgow,et al.  Corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease) , 2000, Ophthalmic genetics.

[36]  J. Alroy,et al.  Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI. , 1999, Experimental eye research.

[37]  K. Ruprecht,et al.  Ocular Changes in Mucopolysaccharidosis IV A (Morquio A Syndrome) and Long-Term Results of Perforating Keratoplasty , 1999, Ophthalmologica.

[38]  I. McLean,et al.  Mild form of Maroteaux-Lamy syndrome: corneal histopathology and ultrastructure. , 1998, Cornea.

[39]  C. Summers,et al.  Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Longer follow-up. , 1998, Ophthalmology.

[40]  J. Wagner,et al.  Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. , 1998, Blood.

[41]  W. Sly,et al.  Gene therapy for murine mucopolysaccharidosis type VII , 1997, Neuromuscular Disorders.

[42]  K. Meek,et al.  X‐Ray Diffraction and Transmission Electron Microscopy of Morquio Syndrome Type A Cornea: A Structural Analysis , 1997, Cornea.

[43]  E. Cohen,et al.  Corneal transplantation in Maroteaux-Lamy syndrome. , 1997, Archives of ophthalmology.

[44]  U. Ramaswami,et al.  Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres , 1997, Archives of disease in childhood.

[45]  M. Gebhardt,et al.  Clinical and biochemical manifestations of hyaluronidase deficiency. , 1996, The New England journal of medicine.

[46]  T. Brown,et al.  Anaesthesia for Children with Mucopolysaccharidoses , 1996, Anaesthesia and intensive care.

[47]  I. Russell-Eggitt,et al.  Bilateral epiretinal membranes: a new finding in Hunter syndrome. , 1996, Ophthalmic genetics.

[48]  A. Vellodi,et al.  Ultrastructural study of the cornea in a bone marrow-transplanted Hurler syndrome patient. , 1996, Experimental eye research.

[49]  P. Mullaney,et al.  Glaucoma in mucopolysaccharidosis 1-H/S. , 1996, Journal of pediatric ophthalmology and strabismus.

[50]  G. Aguirre,et al.  Corneal Endothelium in Mucopolysaccharide Storage Disorders: Morphologic Studies in Animal Models , 1996, Cornea.

[51]  B. Davidson,et al.  Phenotype correction in retinal pigment epithelium in murine mucopolysaccharidosis VII by adenovirus-mediated gene transfer. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[52]  J. Wraith,et al.  The presenting features of mucopolysaccharidosis type IH (Hurler syndrome) , 1995, Acta paediatrica.

[53]  J. E. Wraith,et al.  The mucopolysaccharidoses: a clinical review and guide to management. , 1995, Archives of disease in childhood.

[54]  M. Darowski,et al.  Anaesthesia and mucopolysaccharidoses , 1994, Anaesthesia.

[55]  E. Snyder,et al.  Mucopolysaccharidosis type VII as a model system for gene transfer to the central nervous system. , 1994, Gene therapy.

[56]  T. Hoang‐Xuan,et al.  [Mucopolysaccharidosis type I, Hurler-Scheie phenotype with ocular involvement. Clinical and ultrastructural study]. , 1994, Journal francais d'ophtalmologie.

[57]  G. Naumann,et al.  Aufklaren der transplantatnahen Wirtshornhaut nach perforierender Keratoplastik beim Maroteaux-Lamy-Syndrom (Mukopolysaccharidose Typ VI-A) , 1993 .

[58]  A. Quantock,et al.  Scheie's syndrome: the architecture of corneal collagen and distribution of corneal proteoglycans. , 1993, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

[59]  A. Maekawa,et al.  Pathological characteristics of mucopolysaccharidosis VI in the rat. , 1993, Journal of comparative pathology.

[60]  A. Sjølie,et al.  Cataracts in Morquio syndrome (mucopolysaccharidosis IV A). , 1993, Ophthalmic paediatrics and genetics.

[61]  R. Hennekam,et al.  [Type D Sanfilippo disease in an 8-year-old boy; a rare cause of mental retardation]. , 1993, Nederlands tijdschrift voor geneeskunde.

[62]  W. Sly,et al.  Photoreceptor degeneration and altered distribution of interphotoreceptor matrix proteoglycans in the mucopolysaccharidosis VII mouse. , 1993, Experimental eye research.

[63]  G. Aguirre,et al.  Reciprocal corneal transplantation fails to correct mucopolysaccharidosis VI corneal storage. , 1992, Investigative ophthalmology & visual science.

[64]  G. Naumann,et al.  Light and electron microscopy of the cornea in systemic mucopolysaccharidosis type I-S (Scheie's syndrome). , 1992, Cornea.

[65]  M. Takagi,et al.  Macular edema-like change and pseudopapilledema in a case of Scheie syndrome. , 1991, Journal of clinical neuro-ophthalmology.

[66]  A. Nakai,et al.  Mucopolysaccharidosis VI (Maroteaux‐Lamy Syndrome) with Hearing Impairment and Pupillary Membrane Remnants , 1991, Acta paediatrica Japonica : Overseas edition.

[67]  C. Myer Airway obstruction in Hurler's syndrome--radiographic features. , 1991, International journal of pediatric otorhinolaryngology.

[68]  B. Daicker,et al.  Simultane Hornhauttransplantation bei Mucopolysaccharidose , 1991 .

[69]  E. Traboulsi,et al.  Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses. , 1990, Ophthalmology.

[70]  I. MacDonald,et al.  Scheie's syndrome. An ultrastructural analysis of the cornea. , 1989, Ophthalmology.

[71]  L. Cantor,et al.  Glaucoma in the Maroteaux-Lamy syndrome. , 1989, American journal of ophthalmology.

[72]  R. Purple,et al.  Ocular changes in the mucopolysaccharidoses after bone marrow transplantation. A preliminary report. , 1989, Ophthalmology.

[73]  J. Stürmer Mukopolysaccharidose Typ VI-A (Morbus Maroteaux-Lamy) , 1989 .

[74]  I. Strachan,et al.  Acquired Brown's syndrome associated with Hurler-Scheie's syndrome. , 1989, The British journal of ophthalmology.

[75]  G. Constantopoulos,et al.  Long-term effects of bone marrow transplantation in dogs with mucopolysaccharidosis I. , 1989, The American journal of pathology.

[76]  C. Burillon,et al.  Kératoplastie perforante et dystrophie cornéenne dans le syndrome de Scheie , 1989 .

[77]  M. Nowaczyk,et al.  Glaucoma as an early complication of Hurler's disease. , 1988, Archives of disease in childhood.

[78]  I. Süveges Ocular symptoms and histopathology in mucopolysaccharidoses. , 1987, Bulletin de la Societe belge d'ophtalmologie.

[79]  M. Kaiser-Kupfer,et al.  Electroretinographic findings in the mucopolysaccharidoses. , 1986, Ophthalmology.

[80]  E. Traboulsi,et al.  Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). , 1986, American journal of ophthalmology.

[81]  G. Aguirre,et al.  Arylsulfatase B activity in cultured retinal pigment epithelium: regional studies in feline mucopolysaccharidosis VI. , 1986, Investigative ophthalmology & visual science.

[82]  A. K. Vine UVEAL EFFUSION IN HUNTER'S SYNDROME: Evidence That Abnormal Sclera is Responsible For the Uveal Effusion Syndrome , 1986, Retina.

[83]  W. Green,et al.  Ocular histopathology of systemic mucopolysaccharidosis, type II-A (Hunter syndrome, severe). , 1985, Ophthalmology.

[84]  P. D. de Jong,et al.  Pigment epithelial pattern dystrophy: a peripheral type. , 1985, The British journal of ophthalmology.

[85]  B. Tsou,et al.  Retinal involvement in Morquio's syndrome (MPS IV). , 1985, Annals of ophthalmology.

[86]  G. Naumann Clearing of cornea after perforating keratoplasty in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) , 1985, The New England journal of medicine.

[87]  G. Aguirre,et al.  Disease expression in cultured pigment epithelium. Feline mucopolysaccharidosis VI. , 1985, Investigative ophthalmology & visual science.

[88]  Green Wr,et al.  Occurrence of mucopolysaccharide in corneal grafts in the Maroteaux-Lamy syndrome. , 1985 .

[89]  G. Cole,et al.  Disc oedema in association with Hunter's syndrome: ocular histopathological findings. , 1984, The British journal of ophthalmology.

[90]  G. Constantopoulos,et al.  A canine model of human alpha-L-iduronidase deficiency. , 1983, Proceedings of the National Academy of Sciences of the United States of America.

[91]  E. Jabs,et al.  Ocular histopathology and ultrastructure of Sanfilippo's syndrome, type III-B. , 1983, Archives of ophthalmology.

[92]  W. Green,et al.  Histopathology of Sanfilippo's syndrome. , 1983, Archives of ophthalmology.

[93]  G. Aguirre,et al.  Feline mucopolysaccharidosis VI: General ocular and pigment epithelial pathology. , 1983, Investigative ophthalmology & visual science.

[94]  R. Storb,et al.  Allogeneic Bone‐Marrow Transplantation , 1983, Immunological reviews.

[95]  W. Green,et al.  Ocular ultrastructural studies of two cases of the Hurler syndrome (systemic mucopolysaccharidosis I-H) * , 1983 .

[96]  J. François Metabolic tapetoretinal degenerations. , 1982, Survey of ophthalmology.

[97]  K. Kenyon Conjunctival biopsy for diagnosis of lysosomal disorders. , 1982, Progress in clinical and biological research.

[98]  J. François Metabolic disorders and corneal changes. , 1981, Developments in ophthalmology.

[99]  G. Aguirre,et al.  The pathology of the feline model of mucopolysaccharidosis VI. , 1983, The American journal of pathology.

[100]  R. Watts,et al.  Glaucoma in a case of Hurler disease. , 1980, The British journal of ophthalmology.

[101]  J. Martín,et al.  Sanfilippo A disease in the fetus--comparison with pre- and postnatal cases. , 1980, Neuropadiatrie.

[102]  M. Warburg,et al.  The Hurler/Scheie phenotype in children from a consanguineous marriage: case report with electronmicroscopy of the conjunctiva and ERG. , 1980, Metabolic and pediatric ophthalmology.

[103]  S. Okada,et al.  Electron microscopic examination of skin and conjunctival biopsy specimens in neuronal storage diseases , 1979, Brain and Development.

[104]  I. Maumenee Vitreoretinal degeneration as a sign of generalized connective tissue diseases. , 1979, American journal of ophthalmology-glaucoma.

[105]  I. Dubé,et al.  [Corneal changes in Scheie disease. (Mucopolysaccharidosis type I S) (author's transl)]. , 1979, Journal francais d'ophtalmologie.

[106]  A. Reuser,et al.  Atypical expression of ß‐galactosidase deficiency in a child with Hurler‐like features but without neurological abnormalities , 1978, Clinical genetics.

[107]  L Durand,et al.  Ultrastructural aspects of corneal fibrous tissue in the scheie syndrome , 1978, Virchows Archiv. B, Cell pathology.

[108]  Lorincz Ae The mucopolysaccharidoses: advances in understanding and treatment. , 1978, Pediatric annals.

[109]  M. Warburg,et al.  Hurler/Scheie Phenotype , 1978 .

[110]  C. Remé,et al.  [Congenital glaucoma in Hurler's syndrome and in Lowe's syndrome. Clinical and electron microscopy findings]. , 1978, Advances in ophthalmology = Fortschritte der Augenheilkunde = Progres en ophtalmologie.

[111]  B. Er Diagnosis of metabolic eye disease by chemical analysis of serum, leukocytes and skin fibroblast tissue culture. , 1976 .

[112]  K. Kenyon Ocular manifestations and pathology of systemic mucopolysaccharidoses. , 1976, Birth defects original article series.

[113]  G. Dawson,et al.  Chemical diagnosis of inborn lysosomal storage disorders involving the eye. , 1976, Birth defects original article series.

[114]  H. Quigley,et al.  Acute glaucoma in systemic mucopolysaccharidosis I-S. , 1975, American journal of ophthalmology.

[115]  S. Lamberg,et al.  Glycosaminoglycans. A biochemical and clinical review. , 1974, The Journal of investigative dermatology.

[116]  R. Gardner,et al.  HURLER'S SYNDROME WITH CLEAR CORNEAS , 1974 .

[117]  M. Ghosh,et al.  The Morquio syndrome--light and electron microscopic findings from two corneas. , 1974, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

[118]  J. François Ocular manifestations of the mucopolysaccharidoses. , 1974, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.

[119]  K. Müller,et al.  Ocular histopathology in mucopolysaccharidosis 3 (Sanfilippo). , 1974, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.

[120]  H. Quigley,et al.  Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis. (Maroteaux-Lamy syndrome, mild phenotype). , 1974, American journal of ophthalmology.

[121]  E. Auerbach,et al.  A family with two siblings affected by Morquio syndrome (MPS IV). Electrophysiological and psychophysical findings in the visual system. , 1974, Archives of ophthalmology.

[122]  E. Auerbach,et al.  Electrophysiological and psychophysical findings in Hunter syndrome. , 1974, Archives of ophthalmology.

[123]  H. Quigley,et al.  Russell bodies and plasma cells in human conjunctiva. , 1973, American journal of ophthalmology.

[124]  Jackson Jm,et al.  Letter: Haemophilic women. , 1973 .

[125]  H. Quigley,et al.  The systemic mucopolysaccharidoses. Ultrastructural and histochemical studies of conjunctiva and skin. , 1972, American journal of ophthalmology.

[126]  J. Spranger The systemic mucopolysaccharidoses. , 1972, Ergebnisse der inneren Medizin und Kinderheilkunde.

[127]  M. Goldberg,et al.  Ultrastructural ocular pathology of Hunter's syndrome. Systemic mucopolysaccharidosis type II. , 1971, Archives of ophthalmology.

[128]  Leung Ls,et al.  Further electroretinographic studies of patients with mucopolysaccharidoses. , 1971 .

[129]  V. McKusick,et al.  Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). , 1970, American journal of ophthalmology.

[130]  D. Rosen,et al.  Keratoplasty and electron microscopy of the cornea in systemic mucopolysaccharidosis (Hurler's disease). , 1968, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

[131]  M. Goldberg,et al.  Ocular histopathology in Hunter's syndrome. Systemic mucopolysaccharidosis type II. , 1967, Archives of ophthalmology.

[132]  V. McKusick,et al.  Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses. , 1965, Archives of ophthalmology.

[133]  L. Barness,et al.  A newly recognized forme fruste of Hurler's disease (gargoylism). , 1962, American journal of ophthalmology.