Clinical and Neuroradiological Aspects of the Different Types

[1]  Joseph Muenzer,et al.  The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. , 2007, Molecular genetics and metabolism.

[2]  J. Muenzer,et al.  Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice , 2007, Gene Therapy.

[3]  M. Beck.  New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy , 2007, Human Genetics.

[4]  R. Hoft,et al.  A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. , 2007, Molecular genetics and metabolism.

[5]  E. Wraith,et al.  Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease , 2007, Bone Marrow Transplantation.

[6]  R. Fanous,et al.  Perivascular Spaces: Normal and Giant , 2007, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[7]  S. Jacobs,et al.  Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome , 2006, Journal of Inherited Metabolic Disease.

[8]  Wei-min Zhang,et al.  [Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)]. , 2006, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[9]  A. Pshezhetsky,et al.  The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients , 2006, Human Genetics.

[10]  P. Meikle,et al.  Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples. , 2006, Clinical chemistry.

[11]  F. Krummenauer,et al.  Cumulative incidence rates of the mucopolysaccharidoses in Germany , 2005, Journal of Inherited Metabolic Disease.

[12]  V. Pathi,et al.  Mitral valve replacement for mitral stenosis secondary to Hunter's syndrome. , 2005, The Annals of thoracic surgery.

[13]  E. Miebach.  Enzyme replacement therapy in mucopolysaccharidosis type I , 2005, Acta paediatrica (Oslo, Norway : 1992). Supplement.

[14]  D. Sillence,et al.  Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome , 2005, Genetics in Medicine.

[15]  P. Meikle,et al.  Newborn Screening for Lysosomal Storage Disorders: Clinical Evaluation of a Two-Tier Strategy , 2004, Pediatrics.

[16]  P. Mabe,et al.  Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests. , 2004, Clinica chimica acta; international journal of clinical chemistry.

[17]  J. K. Smith,et al.  Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation , 2004, Neuroradiology.

[18]  Julian L Allen.  Treatment of respiratory system (not just lung!) abnormalities in Mucopolysaccharidosis I. , 2004, The Journal of pediatrics.

[19]  P. Kaplan,et al.  Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). , 2004, The Journal of pediatrics.

[20]  P. Meikle,et al.  Glycosaminoglycan degradation fragments in mucopolysaccharidosis I. , 2004, Glycobiology.

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

[22]  M. Brys,et al.  Enzyme replacement therapy improves function of C-, Aδ-, and Aβ-nerve fibers in Fabry neuropathy , 2004, Neurology.

[23]  O. Gabrielli,et al.  Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses , 2004, American journal of medical genetics. Part A.

[24]  J. Nelson,et al.  Incidence of the mucopolysaccharidoses in Western Australia , 2003, American journal of medical genetics. Part A.

[25]  S. Khan,et al.  Cervical Cord Compression in an Elderly Patient with Hurler’s Syndrome: A Case Report , 2003, Spine.

[26]  Y. Ioannou,et al.  Gene therapy for lysosomal storage disorders , 2003, Expert opinion on biological therapy.

[27]  P. Meikle,et al.  Immortalisation of a mucopolysaccharidosis type IIIC fibroblast cell line via expression of SV40 T antigen , 2003, Cell biology international.

[28]  K. Wüthrich,et al.  Two‐dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses , 2003, NMR in biomedicine.

[29]  K. Takaoka,et al.  A case of mucopolysaccharidosis IV with lower leg paresis due to thoraco-lumbar kyphoscoliosis , 2003, Journal of Clinical Neuroscience.

[30]  J. Trojanowski,et al.  Selective neurodegeneration in murine mucopolysaccharidosis VII is progressive and reversible , 2002, Annals of neurology.

[31]  M. H. Öztürk,et al.  Comparison of MR Signal Intensities of Cerebral Perivascular (Virchow-Robin) and Subarachnoid Spaces , 2002, Journal of computer assisted tomography.

[32]  I. Sinigerska,et al.  Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay , 2002, Prenatal diagnosis.

[33]  W. Sly.  Enzyme replacement therapy: from concept to clinical practice , 2002, Acta paediatrica (Oslo, Norway : 1992). Supplement.

[34]  M. Kimura,et al.  Molecular analysis of the α-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations , 2002, Journal of Human Genetics.

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

[36]  S. Gerson,et al.  Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH) , 2002, Bone Marrow Transplantation.

[37]  Eddie B. Lee,et al.  Distribution of a Lysosomal Enzyme in the Adult Brain by Axonal Transport and by Cells of the Rostral Migratory Stream , 2002, The Journal of Neuroscience.

[38]  P. Kaplan,et al.  Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. , 2002, The American journal of medicine.

[39]  A. Musharbash.  Carpal Tunnel Syndrome in a 28-Month-Old Child , 2002, Pediatric Neurosurgery.

[40]  F. Khan,et al.  Use of the Laryngeal Mask AirwayTM in mucopolysaccharidoses , 2002 .

[41]  J. Chi,et al.  Leukodystrophy in children: a pictorial review of MR imaging features. , 2002, Radiographics : a review publication of the Radiological Society of North America, Inc.

[42]  W. Sly,et al.  Brain-directed gene therapy for lysosomal storage disease: Going well beyond the blood– brain barrier , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[43]  Paul M. McCray,et al.  Functional correction of established central nervous system deficits in an animal model of lysosomal storage disease with feline immunodeficiency virus-based vectors , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[44]  D. Brooks,et al.  Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network. , 2002, Biochemistry.

[45]  P. Pavone,et al.  White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI , 2002, Journal of the Neurological Sciences.

[46]  L. Lockman,et al.  Outcome of second hematopoietic cell transplantation in Hurler syndrome , 2002, Bone Marrow Transplantation.

[47]  Anat Achiron,et al.  Sandlike appearance of Virchow-Robin spaces in early multiple sclerosis: a novel neuroradiologic marker. , 2002, AJNR. American journal of neuroradiology.

[48]  Chieh-Wen Shen,et al.  Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) , 2002, Clinical genetics.

[49]  M. Sheppard,et al.  Left ventricular aneurysm, aortic valve disease and coronary narrowing in a patient with Hunter's syndrome. , 2002, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

[50]  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.

[51]  W. Lien,et al.  Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB) , 2002, Journal of medical genetics.

[52]  O. V. van Diggelen,et al.  A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease) , 2001, Journal of Inherited Metabolic Disease.

[53]  D. Zafeiriou,et al.  Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B) , 2001, Brain and Development.

[54]  J. Hopwood,et al.  Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N‐acetylgalactosamine‐4‐sulfatase , 2001, Human mutation.

[55]  J. Hopwood,et al.  Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients. , 2001, Molecular genetics and metabolism.

[56]  K. Kono,et al.  Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation , 2001, Annals of neurology.

[57]  J. Spreer,et al.  Neurosurgical Interventions in Children with Maroteaux-Lamy Syndrome , 2001, Pediatric Neurosurgery.

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

[59]  M. Javadpour,et al.  Craniovertebral Abnormalities in Type VI Mucopolysaccharidosis (Maroteaux-Lamy Syndrome) , 2001, Neurosurgery.

[60]  H. Hoshi,et al.  Evaluation of Accumulated Mucopolysaccharides in the Brain of Patients with Mucopolysaccharidoses by 1H-Magnetic Resonance Spectroscopy before and after Bone Marrow Transplantation , 2001, Pediatric Research.

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

[62]  R. Boor,et al.  Abnormal Somatosensory Evoked Potentials Indicate Compressive Cervical Myelopathy in Mucopolysaccharidoses , 2000, Neuropediatrics.

[63]  R. Bronen,et al.  MR imaging and histologic features of subinsular bright spots on T2-weighted MR images: Virchow-Robin spaces of the extreme capsule and insular cortex. , 2000, Radiology.

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

[65]  S. Musumeci,et al.  Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome). , 1999, Neuropediatrics.

[66]  P. Lévy,et al.  Hunter's syndrome and associated sleep apnoea cured by CPAP and surgery. , 1999, European Respiratory Journal.

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

[68]  D. Rigante,et al.  Cervical myelopathy in mucopolysaccharidosis type IV. , 1999, Clinical neuropathology.

[69]  C. Hall,et al.  Bone marrow transplantation for Maroteaux–Lamy syndrome (MPS VI): Long-term follow-up , 1999, Journal of Inherited Metabolic Disease.

[70]  A. Yoskovitch,et al.  Acute airway obstruction in Hunter syndrome. , 1998, International journal of pediatric otorhinolaryngology.

[71]  J. House,et al.  Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders. , 1998, The Journal of hand surgery.

[72]  C. Holder,et al.  Mucopolysaccharidosis III (Sanfilippo syndrome) type B: cranial imaging in two cases. , 1997, Journal of computer assisted tomography.

[73]  R O Weller,et al.  Perivascular spaces in the basal ganglia of the human brain: their relationship to lacunes , 1997, Journal of anatomy.

[74]  R. Stanton,et al.  A review of Morquio syndrome. , 1997, American journal of orthopedics.

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

[76]  S. Yagishita,et al.  Sanfilippo syndrome type C: a clinicopathological autopsy study of a long-term survivor. , 1996, Pediatric neurology.

[77]  W. Sly,et al.  Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. , 1996, American Journal of Human Genetics.

[78]  D. Frappaz,et al.  Allogeneic bone marrow transplantation for lysosomal storage diseases , 1995, The Lancet.

[79]  H. Fukasawa,et al.  Unusual widening of Virchow-Robin spaces: MR appearance. , 1995, AJNR. American journal of neuroradiology.

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

[81]  W. Sly,et al.  Pathology of the ear in murine mucopolysaccharidosis type VII. Morphologic correlates of hearing loss. , 1994, Laboratory investigation; a journal of technical methods and pathology.

[82]  V. Runge,et al.  The mucopolysaccharidoses: characterization by cranial MR imaging. , 1993, AJNR. American journal of neuroradiology.

[83]  R. Wevers,et al.  Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. , 1992, Clinical chemistry.

[84]  J. Stevens,et al.  Transoral decompression and posterior stabilisation in Morquio's disease. , 1991, Archives of disease in childhood.

[85]  J. Stevens,et al.  The odontoid process in Morquio-Brailsford's disease. The effects of occipitocervical fusion. , 1991, The Journal of bone and joint surgery. British volume.

[86]  J. Wraith,et al.  Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders. , 1990, Archives of disease in childhood.

[87]  R O Weller,et al.  Interrelationships of the pia mater and the perivascular (Virchow-Robin) spaces in the human cerebrum. , 1990, Journal of anatomy.

[88]  M. Shields,et al.  Cardiovascular studies in the mucopolysaccharidoses. , 1990, Journal of medical genetics.

[89]  A. Tanaka,et al.  MR imaging of the brain in patients with mucopolysaccharidosis. , 1989, AJNR. American journal of neuroradiology.

[90]  J. Valk,et al.  Magnetic Resonance of Myelination and Myelin Disorders , 1989 .

[91]  H. Kresse,et al.  Sanfilippo disease, type C: three cases in the same family. , 1989, Neuropediatrics.

[92]  M. Davisson,et al.  Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency. , 1989, The Journal of clinical investigation.

[93]  J. Nelson,et al.  Clinical findings in 12 patients with MPS IV A (Morquio's disease) , 1988, Clinical genetics.

[94]  H. Berry,et al.  Screening for mucopolysaccharide disorders with the Berry spot test. , 1987, Clinical biochemistry.

[95]  N. Tamaki,et al.  Myelopathy due to diffuse thickening of the cervical dura mater in Maroteaux-Lamy syndrome: report of a case. , 1987, Neurosurgery.

[96]  F. Gabreëls,et al.  Phenotypic expression in mucopolysaccharidosis VII. , 1987, Journal of neurology, neurosurgery, and psychiatry.

[97]  R. Brady,et al.  Lysosomal Storage Diseases , 1986, The Lancet.

[98]  R. Watts,et al.  Neuropathological and clinical correlations in hurler disease , 1986, Journal of Inherited Metabolic Disease.

[99]  R. Weller,et al.  Anatomical relationships of the pia mater to cerebral blood vessels in man. , 1986, Journal of neurosurgery.

[100]  J. Shapiro,et al.  Airway Obstruction and Sleep Apnea in Hurler and Hunter Syndromes , 1985, The Annals of otology, rhinology, and laryngology.

[101]  R. Newcombe,et al.  A clinical and genetic study of Hunter's syndrome. 2 Differences between the mild and severe forms , 1982, Journal of medical genetics.

[102]  H. Duvernoy,et al.  Cortical blood vessels of the human brain , 1981, Brain Research Bulletin.

[103]  K. Figura,et al.  Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C) , 1981, Clinical genetics.

[104]  Kinuko Suzuki,et al.  The morquio syndrome: Neuropathologyxs and biochemistry , 1978 .

[105]  J. Gregory.  Metabolic disorders. , 2009, Endocrine development.

[106]  G. Constantopoulos,et al.  Mucopolysaccharidosis types I, II, IIIA and V , 1977, Acta Neuropathologica.

[107]  C. Pennock.  A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses. , 1976, Journal of clinical pathology.

[108]  V. McKusick,et al.  THE GENETIC MUCOPOLYSACCHARIDOSES , 1965, Medicine.

[109]  A. Linker,et al.  Excretion of Sulfated Mucopolysaccharides in Gargoylism. (Hurler's Syndrome)∗ , 1958, Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine.

[110]  H. Koyanagi,et al.  Combined aortic and mitral valve replacement in an adult with mucopolysaccharidosis (Maroteaux-Lamy syndrome) , 2007, Heart and Vessels.

[111]  M. Beck.  Galsulfase: enzyme-replacement therapy for mucopolysaccharidosis Type VI (Maroteaux–Lamy syndrome) , 2006 .

[112]  J. Tolar,et al.  Cardiac Functional and Histopathologic Findings in Humans and Mice with Mucopolysaccharidosis Type I: Implications for Assessment of Therapeutic Interventions in Hurler Syndrome , 2006, Pediatric Research.

[113]  A. Marzoli,et al.  Mucopolysaccharidosis: thickening of dura mater at the craniocervical junction and other CT/MRI findings , 2005, Pediatric Radiology.

[114]  P. Meikle,et al.  Prediction of neuropathology in mucopolysaccharidosis I patients. , 2005, Molecular genetics and metabolism.

[115]  D. Brooks,et al.  Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients. , 2004, Molecular genetics and metabolism.

[116]  M. Brys,et al.  Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. , 2004, Neurology.

[117]  J. Blickman,et al.  Airway changes in children with mucopolysaccharidoses. , 2002, Acta radiologica.

[118]  H. Brunner,et al.  Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype. , 2001, Genetic counseling.

[119]  F. Haddad,et al.  Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses. , 1997, The Journal of bone and joint surgery. British volume.

[120]  B. Poorthuis,et al.  Identification of 31 novel mutations in the N‐acetylgalactosamine‐6‐sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome , 1997, Human mutation.

[121]  U. Wendel.  Stoffwechselstörungen im Kindesalter , 1995 .

[122]  E. Schwinger,et al.  Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate‐2‐sulphatase gene , 1993, Human mutation.

[123]  P. Narayana,et al.  Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses. , 1987, Magnetic resonance imaging.

[124]  G. Donnell,et al.  Beta-glucuronidase deficiency. A heterogeneous mucopolysaccharidosis. , 1985, American journal of diseases of children.

[125]  G. Donnell,et al.  β-Glucuronidase Deficiency: A Heterogeneous Mucopolysaccharidosis , 1985 .

[126]  S. Wald,et al.  Compressive myelopathy associated with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). , 1984, Neurosurgery.

[127]  K. Suzuki,et al.  The Morquio syndrome: neuropathology and biochemistry. , 1978, Annals of neurology.

[128]  S. Lipson.  Dysplasia of the odontoid process in Morquio's syndrome causing quadriparesis. , 1977, The Journal of bone and joint surgery. American volume.

[129]  G. Constantopoulos,et al.  Mucopolysaccharidosis type I, II, IIIA and V. Pathological and biochemical abnormalities in the neural and mesenchymal elements of the brain. , 1977, Acta neuropathologica.

[130]  F. Van hoof.  Mucopolysaccharidoses and mucolipidoses. , 1974, Journal of clinical pathology. Supplement.

[131]  K S Mathur,et al.  Vascular diseases. , 1970, The Journal of the Association of Physicians of India.

[132]  G BRANTE,et al.  Gargoylism; a mucopolysaccharidosis. , 1952, Scandinavian journal of clinical and laboratory investigation.

[133]  S. Walkley,et al.  Alterations in neuron morphology in mueopolysaccharidosis type I * A Golgi study , 2022 .