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Longer titles found: Mucopolysaccharidosis type I (view)

searching for Mucopolysaccharidosis 39 found (98 total)

Arylsulfatase B (1,828 words) [view diff] exact match in snippet view article find links to article

4-sulfate sulfohydrolase, EC 3.1.6.12) is an enzyme associated with mucopolysaccharidosis VI (Maroteaux–Lamy syndrome). Arylsulfatase B is among a group of

Galactosamine-6 sulfatase (989 words) [view diff] exact match in snippet view article find links to article

sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)". Fukuda S, Tomatsu S, Masue M, et al. (1992). "Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate

Iduronidase (1,551 words) [view diff] exact match in snippet view article find links to article

indicated in the US for people with Hurler and Hurler-Scheie forms of Mucopolysaccharidosis I (MPS I) and for people with the Scheie form who have moderate

List of MeSH codes (C18) (4,274 words) [view diff] exact match in snippet view article

715.640 – mucopolysaccharidosis I MeSH C18.452.648.202.715.645 – mucopolysaccharidosis II MeSH C18.452.648.202.715.650 – mucopolysaccharidosis III MeSH C18

Macrocephaly (1,722 words) [view diff] exact match in snippet view article find links to article

glycosylation MOMO syndrome Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7 Mucopolysaccharidosis, MPS-II Mucopolysaccharidosis, MPS-III-D Muenke syndrome

Vestronidase alfa (771 words) [view diff] exact match in snippet view article find links to article

children and adults with an inherited metabolic condition called mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome. MPS VII is an extremely

List of MeSH codes (C16) (6,496 words) [view diff] exact match in snippet view article

715.640 – mucopolysaccharidosis I MeSH C16.320.565.202.715.645 – mucopolysaccharidosis II MeSH C16.320.565.202.715.650 – mucopolysaccharidosis III MeSH C16

Luis Morquio (390 words) [view diff] exact match in snippet view article find links to article

physician and professor. A medical condition, Morquio syndrome (mucopolysaccharidosis IV), is named in his honor. Morquio was born on September 24, 1867

Osteochondrodysplasia (2,857 words) [view diff] exact match in snippet view article find links to article

(MPS) constitute a commonly seen group of osteochondrodysplasias. Mucopolysaccharidosis can cause a wide spectrum of clinical and radiologic manifestations

N-sulfoglucosamine sulfohydrolase (1,355 words) [view diff] exact match in snippet view article find links to article

lead to serious diseases as noted below. Sanfillipo Syndrome or Mucopolysaccharidosis III, MPS III, is a lysosomal storage disease resulting from a deficiency

List of MeSH codes (C17) (3,128 words) [view diff] exact match in snippet view article

550.575.640 – mucopolysaccharidosis i MeSH C17.300.550.575.645 – mucopolysaccharidosis ii MeSH C17.300.550.575.650 – mucopolysaccharidosis iii MeSH C17

SGSH (1,168 words) [view diff] exact match in snippet view article find links to article

sulfohydrolase (SGSH; MIM 605270). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation

Nonsense suppressor (864 words) [view diff] exact match in snippet view article find links to article

mutation(Idua-W401X,TCG→TAG). This model recapitulates a human LSD, mucopolysaccharidosis disease type I (or Hurler Syndrome), caused by absence of the enzyme

HYAL1 (2,078 words) [view diff] exact match in snippet view article find links to article

hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several

VPS33A (560 words) [view diff] exact match in snippet view article find links to article

with mutations in this gene. This syndrome has since been named Mucopolysaccharidosis-plus syndrome. GRCm38: Ensembl release 89: ENSMUSG00000029434 –

Schipperke (988 words) [view diff] exact match in snippet view article find links to article

original on 2013-08-13. Retrieved 2012-06-27. Skipperke Club, p. 2 "Mucopolysaccharidosis (MPS) IIIB". UPenn School of Veterinary Medicine. "New DNA-based

Unibrow (1,237 words) [view diff] exact match in snippet view article find links to article

nuclear type 20 Mitochondrial complex III deficiency nuclear type 7 Mucopolysaccharidosis, MPS-III-A to -D Neurodevelopmental disorder with dysmorphic facies

List of skin conditions (17,977 words) [view diff] exact match in snippet view article find links to article

(gargoylism, mucopolysaccharidosis type I) Hurler–Scheie syndrome (mucopolysaccharidosis type I H-S) Hyaluronidase deficiency (mucopolysaccharidosis type IX)

Epiphysiodesis (1,094 words) [view diff] exact match in snippet view article find links to article

(June 2015). "Characterization of knee alignment in children with mucopolysaccharidosis types I and II and outcome of treatment with guided growth". Journal

Hydrops fetalis (1,673 words) [view diff] exact match in snippet view article find links to article

deficiency is the cause of the lysosomal storage disease called mucopolysaccharidosis type VII. Congenital disorders of glycosylation Parvovirus B19 (fifth

Short stature (1,956 words) [view diff] exact match in snippet view article find links to article

which there is trunk shortening as spondyloepiphyseal dysplasia and mucopolysaccharidosis. Short-limb short stature can be further subcategorised in accordance

This Woman's Work (1,565 words) [view diff] exact match in snippet view article find links to article

to progressing clinical research into the effective treatment of Mucopolysaccharidosis III, also known as MPSIII or Sanfilippo Syndrome. The song peaked

Chromosome 7 (2,947 words) [view diff] exact match in snippet view article find links to article

needed] maturity onset diabetes of the young type 3[citation needed] mucopolysaccharidosis type VII or Sly syndrome Muscular dystrophy, limb-girdle, type 1D

GM1 gangliosidoses (1,071 words) [view diff] exact match in snippet view article find links to article

involvement but severe dysostosis resembling Morquio disease type A (Mucopolysaccharidosis type 4). Onset of late infantile GM1 is typically between ages 1

HYAL3 (480 words) [view diff] exact match in snippet view article find links to article

hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX". Proc. Natl. Acad. Sci. U.S.A. 96 (11): 6296–300. Bibcode:1999PNAS

Portal hypertension (2,972 words) [view diff] exact match in snippet view article find links to article

Granulomatous or infiltrative liver diseases (Gaucher disease, mucopolysaccharidosis, sarcoidosis, lymphoproliferative malignancies, amyloidosis, etc

William S. Sly (913 words) [view diff] exact match in snippet view article find links to article

First Therapy for Progressive and Debilitating Rare Genetic Disease Mucopolysaccharidosis VII". Ultragenyx.com. Retrieved 27 June 2021. "Patricia Stallings

Elosulfase alfa (522 words) [view diff] exact match in snippet view article find links to article

therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study". Journal of

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

MCOLN1 Mucopolysaccharidosis Ih; 607014; IDUA Mucopolysaccharidosis Ih/s; 607015; IDUA Mucopolysaccharidosis Is; 607016; IDUA Mucopolysaccharidosis IVA;

Priority review (3,432 words) [view diff] exact match in snippet view article find links to article

ChemoResearch Rare pediatric Kymriah B-ALL Novartis Rare pediatric Mepsevii Mucopolysaccharidosis type VII Ultragenyx Rare pediatric Luxturna RPE65-mutated retinal

Helge Stormorken (2,046 words) [view diff] exact match in snippet view article find links to article

Erik; Stormorken, Helge (28 June 2008). "Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive

Regenerative medicine advanced therapy (1,371 words) [view diff] exact match in snippet view article find links to article

epidermolysis bullosa ABO-102 Abeona Therapeutics gene therapy SGSH Mucopolysaccharidosis Type III (Sanfilippo syndrome) ADP-A2M4 Adaptimmune Therapeutics

Evoked potential (5,213 words) [view diff] exact match in snippet view article find links to article

compressive lesions on the spine (e.g. Arnold-Chiari malformation or mucopolysaccharidosis) are associated with abnormal SEPs, which may precede abnormalities

Gene therapy (17,769 words) [view diff] exact match in snippet view article find links to article

received LYS-SAF302, an experimental gene therapy treatment for mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). In May, a new method using

Causes of autism (15,885 words) [view diff] exact match in snippet view article find links to article

Phosphoribosyl pyrophosphate synthetase superactivity Sanfilippo syndrome (mucopolysaccharidosis type III) Mitochondrial DNA Mutations Nuclear DNA mutations Biotinidase

List of geneticists (7,893 words) [view diff] exact match in snippet view article find links to article

heredity William S. Sly (born 1932), US biochemical geneticist, mucopolysaccharidosis type VII (Sly syndrome) Cedric A. B. Smith (1917–2002), British

Daniel Berger (physician) (2,107 words) [view diff] exact match in snippet view article

cardiovascular and pulmonary outcomes of World Trade Center exposure, mucopolysaccharidosis, Pompe's Disease and pulmonary manifestations of obesity (http://www

List of MeSH codes (C10) (9,229 words) [view diff] exact match in snippet view article

687 – menkes kinky hair syndrome MeSH C10.597.606.643.455.750 – mucopolysaccharidosis ii MeSH C10.597.606.643.455.875 – pyruvate dehydrogenase complex

Flat-chested kitten syndrome (5,551 words) [view diff] exact match in snippet view article find links to article

Gardner, S. A., Owens, J. M., Wenger, D. A., Thrall, M. A. (2000). Mucopolysaccharidosis VII in a cat. Veterinary Pathology 37, 502–505. Soderstrom, M. J