2008). "Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI ... which in turn can lead to mucopolysaccharidosis VI. Used as a pharmaceutical drug, the enzyme is known under the International ... is an enzyme associated with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Arylsulfatase B is among a group of ... 6: 32885. doi:10.1038/srep32885. PMC 5015117 . PMID 27605497. Mitsunaga-Nakatsubo K, Kusunoki S, Kawakami H, Akasaka K, Akimoto ...
... also known as mucopolysaccharidosis type VI, MPS VI, or polydystrophic dwarfism) is a form of mucopolysaccharidosis caused by a ...
... mild form Mucopolysaccharidosis type 2 Hunter syndrome- severe form Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 6 ... Mucopolysaccharidosis type 7 Sly syndrome Mucopolysaccharidosis type I Hurler syndrome Mucopolysaccharidosis type I Hurler/ ... Scheie syndrome Mucopolysaccharidosis type I Scheie syndrome Multiple endocrine abnormalities - adenylyl cyclase dysfunction ... 55 (6): 861-870. doi:10.1007/BF02727817. Retrieved 14 April 2012. "Causes of Coarse facial features". WrongDiagnosis.com. 2010- ...
MPS VI Phase 3 Study Group: Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, ... During his tenure at BioMarin, Kakkis guided the development and approval of two more treatments for rare disorders, MPS VI and ... in patients with mucopolysaccharidosis I. Molecular Genetics and Metabolism, 96(1); 13-19, 2009. Clarke, L.A., Wraith, J.E., ... for the rare disorder Mucopolysaccharidosis (MPS I). The struggle to get the therapy translated from a successful canine model ...
... mucopolysaccharidosis type VI) Medication-induced hyperlipoproteinemia Metastatic calcinosis cutis Milia-like calcinosis ... mucopolysaccharidosis type I) Hurler-Scheie syndrome (mucopolysaccharidosis type I H-S) Hyaluronidase deficiency ( ... mucopolysaccharidosis type IX) Iatrogenic calcinosis cutis Idiopathic scrotal calcinosis (idiopathic calcified nodules of the ... mucopolysaccharidosis type I S) Secondary cutaneous amyloidosis Secondary systemic amyloidosis Sialidosis Sly syndrome ( ...
... also called mucopolysaccharidosis type VI) Iduronidase (branded as Aldurazyme), a recombinant protein therapeutic for ... BioMarin was the first company to provide therapeutics for mucopolysaccharidosis type I (MPS I), by manufacturing laronidase ( ... mucopolysaccharidosis I Amifampridine (branded as Firdapse), a small molecule drug for Lambert-Eaton myasthenic syndrome (as of ...
1995). "Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients". Hum. Mol. Genet. 4 ... mucopolysaccharidosis type IVA)". Fukuda S, Tomatsu S, Masue M, et al. (1992). "Mucopolysaccharidosis type IVA. N- ... 1994). "Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis ... 1995). "Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate ...
Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This ... Yogalingam G, Hopwood JJ (October 2001). "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical ... mucopolysaccharidosis III B)". Human Molecular Genetics. 5 (6): 771-7. doi:10.1093/hmg/5.6.771. PMID 8776591. Clark AG, ... 110 (5): 842-6. PMID 1783617. Vance JM, Pericak-Vance MA, Elston RC, Conneally PM, Namboodiri KK, Wappner RS, Yu PL (1980). " ...
Children with MPS VI, Maroteaux-Lamy syndrome, usually have normal intellectual development but share many of the physical ... Subjects with a mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these ... The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disorders that ... Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small an amount or is ...
Yogalingam G, Hopwood JJ (Oct 2001). "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and ... or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate. MPS III includes 4 ... "Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA ( ... 6 (5): 787-91. doi:10.1093/hmg/6.5.787. PMID 9158154. Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ ( ...
She has contributed to articles on the management of mucopolysaccharidosis type II (Hunter syndrome) and assessment of ... To identify which patients with mucopolysaccharidosis type II (Hunter syndrome) have the severe neurodegenerative form of the ... She has also contributed to the characterization of neurophysiologic abnormalities in mucopolysaccharidosis type III ( ... Husain AM; Escolar ML; Kurtzberg J (2006). "Neurophysiologic assessment of mucopolysaccharidosis III". Clin Neurophysiol. 117: ...
Flomen RH, Green PM, Bentley DR, Giannelli F, Green EP (Jul 1992). "Detection of point mutations and a gross deletion in six ... Sukegawa K, Tomatsu S, Fukao T, Iwata H, Song XQ, Yamada Y, Fukuda S, Isogai K, Orii T (1995). "Mucopolysaccharidosis type II ( ... Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked mucopolysaccharidosis type II, ... Jonsson JJ, Aronovich EL, Braun SE, Whitley CB (Mar 1995). "Molecular diagnosis of mucopolysaccharidosis type II (Hunter ...
... a form of mucopolysaccharidosis C-C chemokine receptor type 6, a CC chemokine receptor. ... a prototype automobile designed by Ettore Bugatti Mucopolysaccharidosis type 6, ... Type 6 may refer to: Peugeot Type 6, an automobile by the manufacturer Peugeot Japanese Type 6 submarine Spinocerebellar ataxia ... autosomal dominant disorder Bristol Type 6 T.T.A, a British two-seat, twin-engine biplane Type 6 fire engine Bugatti Type 6, ...
1991). "Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity". Am. J. Hum. Genet. 48 (1): ... Wu BM, Sly WS (1994). "Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII". Hum. ... 1993). "Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes". Am. J. Hum. ... 1993). "Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer". Nature. 360 (6406): 749- ...
Dysostosis multiplex (as in the mucopolysaccharidoses) 10-80% of peripheral lymphocytes are vacuolated; foamy histiocytes in ... Mucopolysaccharidosis type 4). Onset of late infantile GM1 is typically between ages 1 and 3 years. Neurological symptoms ... Macular cherry-red spots in 50% by 6-10 months; corneal opacities in some Facial dysmorphology: frontal bossing, wide nasal ... by 6 months; initial hypotonia; later spasticity with pyramidal signs; secondary microcephaly develops; decerebrate rigidity by ...
... mucopolysaccharidosis vi MeSH C18.452.648.202.715.675 --- mucopolysaccharidosis vii MeSH C18.452.648.202.720 --- multiple ... mucopolysaccharidosis iv MeSH C18.452.648.595.600.670 --- mucopolysaccharidosis vi MeSH C18.452.648.595.600.675 --- ... mucopolysaccharidosis i MeSH C18.452.648.202.715.645 --- mucopolysaccharidosis ii MeSH C18.452.648.202.715.650 --- ... mucopolysaccharidosis iii MeSH C18.452.648.202.715.655 --- mucopolysaccharidosis iv MeSH C18.452.648.202.715.670 --- ...
... mucopolysaccharidosis vi MeSH C17.300.550.575.675 --- mucopolysaccharidosis vii MeSH C17.300.550.590 --- myxedema MeSH C17.300. ... mucopolysaccharidoses MeSH C17.300.550.575.640 --- mucopolysaccharidosis i MeSH C17.300.550.575.645 --- mucopolysaccharidosis ... ii MeSH C17.300.550.575.650 --- mucopolysaccharidosis iii MeSH C17.300.550.575.655 --- mucopolysaccharidosis iv MeSH C17.300. ...
Neufeld EF, Muenzer J (1995). "The mucopolysaccharidoses". In Scriver CR, Beaudet AL, Sly WS, Valle D. The metabolic and ... Jun 1997). "Systemic ehrlichiosis presenting as progressive hepatosplenomegaly". South Med J. 90 (6): 656-60. doi:10.1097/ ...
A deficiency in the IDUA protein is associated with mucopolysaccharidoses (MPS). MPS, a type of lysosomal storage disease, is ... A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I ... Aldurazyme was granted orphan designation for Treatment of patients with mucopolysaccharidosis-I on September 24, 1997. As of ... Accessed December 6, 2015. Kakkis, E. D. and B. Tanamachi. "Recombinant α-L-iduronidase, methods for producing and purifying ...
... mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study". Journal of Inherited Metabolic Disease. 37 (6): 979 ... doi:10.1007/s10545-014-9715-6. Hendriksz, C. et. al (February 2015). "Multi-domain impact of elosulfase alfa in Morquio A ... is a drug for the treatment of Morquio syndrome which is caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase ...
... type IV-A Morquio syndrome Mucopolysaccharidosis type IV-B Mucopolysaccharidosis type V Mucopolysaccharidosis type VI Maroteaux ... 4 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type I Hurler syndrome Mucopolysaccharidosis ... severe, intermediate Mucopolysaccharidosis type VII Sly syndrome Mucopolysaccharidosis Mucormycosis Mucosulfatidosis Muenke ... mild form Mucopolysaccharidosis type II Hunter syndrome- severe form Mucopolysaccharidosis ...
... mucopolysaccharidosis vi MeSH C16.320.565.202.715.675 --- mucopolysaccharidosis vii MeSH C16.320.565.202.720 --- multiple ... mucopolysaccharidosis iv MeSH C16.320.565.580.600.670 --- mucopolysaccharidosis vi MeSH C16.320.565.580.600.675 --- ... mucopolysaccharidosis i MeSH C16.320.565.202.715.645 --- mucopolysaccharidosis ii MeSH C16.320.565.202.715.650 --- ... mucopolysaccharidosis iii MeSH C16.320.565.202.715.655 --- mucopolysaccharidosis iv MeSH C16.320.565.202.715.670 --- ...
... and biochemical features of a new mucopolysaccharidosis". J. Pediatr. 82 (2): 249-57. doi:10.1016/S0022-3476(73)80162-3. PMID ... U.S.A. 87 (16): 6073-6. Bibcode:1990PNAS...87.6073S. doi:10.1073/pnas.87.16.6073. PMC 54474 . PMID 2117271. Sly WS, Quinton BA ... He headed studies that identified the mannose-6 phosphate and mannose receptors that target enzymes to lysosomes, which ...
In 1990, only six African-Americans were able to find a bone marrow match, and all six had common European genetic signatures.[ ... "Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation". ... page 96, "Radiation doses were intense, being estimated at 205, 320, 410, 415, 422, and 433 rem.74 Of the six persons present, ... "Retrieved 6 October 2013.. *^ Bone Marrow Donors Worldwide Annual Report 2012 Archived 20 December 2013 at the Wayback Machine. ...
... is a particularly severe form of ML that has a significant resemblance to another mucopolysaccharidoses called Hurler syndrome ... Mannose 6 phosphate serves as a marker for them to be targeted to lysosomes within the cell. Without this marker, the proteins ... Without mannose-6-phosphate to target them to the lysosomes, the enzymes are transported from the Golgi to the extracellular ... Typically, by the age of 6 months, failure to thrive and developmental delays are obvious symptoms of this disorder. Some ...
In 1990, only six African-Americans were able to find a bone marrow match, and all six had common European genetic signatures.[ ... "Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation". ... Of the six persons present, one died and the other five recovered after severe cases of radiation sickness." ... Retrieved 6 October 2013.. *^ Bone Marrow Donors Worldwide Annual Report 2012 Archived 20 December 2013 at the Wayback Machine. ...