Examples of 'mucopolysaccharidosis' in a sentence
Meaning of "mucopolysaccharidosis"
Mucopolysaccharidosis: a group of inherited metabolic disorders characterized by the accumulation of glycosaminoglycans in the body, leading to various symptoms such as skeletal deformities and organ damage
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- Any of a group of metabolic disorders caused by the absence or malfunction of lysosomal enzymes needed to break down glycosaminoglycans.
How to use "mucopolysaccharidosis" in a sentence
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mucopolysaccharidosis
A deficiency of one of the hydrolases results in a mucopolysaccharidosis.
Mucopolysaccharidosis affecting the skin.
A deficiency of one hydrolase results in a mucopolysaccharidosis.
Patients with mucopolysaccharidosis have a higher admission rate to hospitals for surgeries than the general population.
Hurler syndrome is the most severe type of mucopolysaccharidosis.
Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome.
Gene therapy for mucopolysaccharidosis.
It involves a deficit of betas-glucuronidase responsible for a mucopolysaccharidosis.
There are several indigenous patients with mucopolysaccharidosis VI currently receiving enzyme replacement therapy.
A lankness of one of the hydrolases can causes in a form of mucopolysaccharidosis.
Patients with mucopolysaccharidosis I are selected for treatment.
Dermatan sulfate accumulates abnormally in several of the mucopolysaccharidosis disorders.
Mucopolysaccharidosis are not myopathies and, therefore, do not predispose to malignant hyperthermia.
Use of Odiparcil in the treatment of a mucopolysaccharidosis.
The mucopolysaccharidosis ( mps ) is a metabolic genetic disease caused by inborn errors of metabolism.
See also
Neonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats.
Mucopolysaccharidosis has some 11 recognized forms, differentiated by their underlying genetic cause and respective treatment methods.
Enzyme replacement therapy with galsulfase is considered a new approach for treating mucopolysaccharidosis type VI.
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.
Preferably the compound is used in the treatment of mucopolysaccharidosis type I.
Mucopolysaccharidosis Type IIIB - This is the most significant inherited disease seen in the breed.
Preferably the compounds are used in the treatment of mucopolysaccharidosis type I.
Mucopolysaccharidosis type II Hunter syndrome- severe form.
It is a self-help organization for parents with a child affected by mucopolysaccharidosis.
Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey.
In another embodiment of the present invention, the lysosomal storage disorder is mucopolysaccharidosis.
The disease is also known as mucopolysaccharidosis III, or MPSIII.
Mucopolysaccharidosis type II Hunter syndrome- mild form.
Before that, children with diseases like mucopolysaccharidosis just stayed home.
Mucopolysaccharidosis type I, or MPS I, is a spectrum of diseases in the mucopolysaccharidosis family.
Differential diagnosis includes other types of mucopolysaccharidosis ( MPS ) and oligosaccharidosis.
Mucopolysaccharidosis type 2 Hunter syndrome- severe form.
The method of claim 6, wherein the lysosomal storage disease is Mucopolysaccharidosis.
Naglazyme is used to treat patients who have mucopolysaccharidosis VI MPS VI or Maroteaux-Lamy syndrome.
Mucopolysaccharidosis type 2 Hunter syndrome- mild form.
In another aspect of the invention, a method for screening newborns for Mucopolysaccharidosis Type-I is provided.
Sanfilippo syndrome, or mucopolysaccharidosis III ( MPS-III ) is a rare autosomal recessive lysosomal storage disease.
O Macrostomia, seen in mucopolysaccharidosis.
Mucopolysaccharidosis type VI Maroteaux-Lamy - severe, intermediate.
In one embodiment, the mucopolysaccharidosis is MPS IIIB.
Received orphan drug designation by the FDA in December 2014 for treatment of mucopolysaccharidosis type I.
In preferred embodiments the disease is mucopolysaccharidosis VI ( MPS VI ), Maroteaux-Lamy syndrome.
Mutations of the iduronate-2-sulfatase ( IDS ) gene in patients with Hunter syndrome mucopolysaccharidosis II.
The method of claim 1, for the treatment of mucopolysaccharidosis type VI ( Maroteaux-Lamy disease ).
INSPECTION - Macroglossia, indicates hypothyroidism or mucopolysaccharidosis TEETH,.
They are indicative of mucopolysaccharidosis ( an inherited enzyme deficiency disorder, e.g. Hurler 's and Hunter 's syndromes ).
Exemplary lysosomal storage diseases include mucopolysaccharidosis type II ( Hunter Syndrome ).
Treatment of mucopolysaccharidosis type II ( Hunter 's syndrome ).
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II Hunter syndrome.
A method for screening newborns for Mucopolysaccharidosis Type-I, comprising,.
