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Noun

mucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues

congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder - a disease or disorder that is inherited genetically

dysostosis multiplex, gargoylism, Hurler's disease, Hurler's syndrome, lipochondrodystrophy - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation

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References in periodicals archive

Orchard Therapeutics announced data from an ongoing proof-of-concept clinical trial evaluating the safety and efficacy of OTL-203, a gene therapy for the treatment of mucopolysaccharidosis type I developed at the San Raffaele-Telethon Institute for Gene Therapy.

Orchard Therapeutics announces data from ongoing PoC trial of OTL-203

Daix (France), September 2, 2019 - Inventiva (Euronext: IVA), a clinical-stage biopharmaceutical company developing oral small molecule therapies for the treatment of diseases in the areas of fibrosis, lysosomal storage disorders and oncology, today announced the recruitment of the first patients in a new biomarker study in children and adults with mucopolysaccharidosis type VI (MPS VI)

Odiparcil development advances with recruitment of first patients in a new biomarker study in MPS VI children and adults

The oral presentations will highlight data from the company's neurometabolic portfolio, including investigational candidates OTL-203 for mucopolysaccharidosis type I (MPS-I) and OTL-200 for metachromatic leukodystrophy (MLD).

Orchard Therapeutics Announces Presentation of Data from Neurometabolic Portfolio at Upcoming Society for the Study of Inborn Errors of Metabolism 2019 Annual Symposium

Dr Hayes will lead the company's preclinical research and spearhead the near-term advancement of ISP-001 for the treatment of Mucopolysaccharidosis type I (MPS I) and additional Immune System Programming (ISP) candidates into clinical development.

Immusoft names Robert Hayes, PhD as chief scientific officer

A clinical study of 77 patients with mucopolysaccharidosis type II.

Bir Mukopolisakkaridoz Tip II Olgusunda Zor Hava Yolu Yonetimi/Management of Difficult Airway in a Patient with Mucopolysaccharidosis Type II

Mucopolysaccharidosis (MPS) is composed of a group of rare inherited lysosomal storage disorders of the mucopolyssacharide, or glycosaminoglycan (GAGs), metabolism.

Michigan Hand Outcomes Questionnaire for the Evaluation of Patients with Mucopolysaccharidosis

Clinicopathological diagnosis of mucopolysaccharidosis type IIIB (MPS IIIB; Sanfilippo syndrome B), an inherited autosomal recessive lysosomal storage disease, as a cause of losses in a commercial emu flock and screening breeders using a mutation-specific DNA test are described.

Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu (Dromaius novaehollandiae) flock

Mucopolysaccharidosis Type IVA (MPS IVA or Morquio A disease; Online Mendelian Inheritance in Man 253000) was first described in 1929 by a pediatrician, L.

Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience

Scarpa, "Mucopolysaccharidosis type II," in GeneReviews, R.

Unexpected Exacerbation of Tracheal Stenosis in a Patient with Hunter Syndrome Undergoing Cardiac Surgery

Hunter syndrome (mucopolysaccharidosis type II (MPS II)) is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).

Hunter Syndrome Diagnosed by Otorhinolaryngologist

Food and Drug Administration (FDA) has approved MEPSEVII[TM] (vestronidase alfa), the first medicine approved for the treatment of children and adults with Mucopolysaccharidosis VII (MPS VII, Sly syndrome).

ULTRAGENYX ANNOUNCES FDA APPROVAL OF MEPSEVII[TM]: Mepsevii (Vestronidase Alfa) is the First Therapy for Progressive and Debilitating Rare Genetic Disease Mucopolysaccharidosis Vii