Results 1 -
10
of
17
for
Mucopolysaccharidosis type I
- Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body. The condition occurs almost exclusively ...
- Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely ...
- Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the brain ... C Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-D Mucopolysaccharidosis type 3 National Organization for Rare Disorders (NORD) ClinicalTrials. ...
- Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I- ...
- Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many ... 6 Mucopolysaccharidosis VI Polydystrophic dwarfism Genetic Testing Registry: Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 6 National Organization for Rare ...
- Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies ...
- ... the IDUA gene have been found to cause mucopolysaccharidosis type I (MPS I). Mutations that change one DNA ... Young EP, Winchester BG. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of ...
- ... the IDS gene have been found to cause mucopolysaccharidosis type II (MPS II). Variants that change one DNA ... syndrome) iduronate-2-sulfatase Tests of IDS PubMed MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 NCBI Gene ClinVar Azambuja AS, Pimentel- ...
- ... the ARSB gene have been found to cause mucopolysaccharidosis type VI (MPS VI). Most of these mutations change ... Miranda MC, Hopwood JJ. Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat. 2007 Sep;28(9): ...
- ... the SGSH gene have been found to cause mucopolysaccharidosis type IIIA (MPS IIIA). Most of these mutations change ... associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Hum Mutat. 2008 May; ...
