Hurler-Scheie Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.
|
24368159 |
2014 |
Hurler-Scheie Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
So far, more than 100 IDUA causative mutations have been identified leading to three MPS I phenotypic subtypes: Hurler syndrome (severe form), Hurler/Scheie syndrome (intermediate form), and Scheie syndrome (mild form).
|
31758674 |
2020 |
Hurler-Scheie Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
A 13-year-old boy with Hurler-Scheie syndrome (MPS I-HS) presented with corneal clouding in both eyes.
|
30575621 |
2019 |
Hurler-Scheie Syndrome
|
0.770 |
Biomarker
|
disease |
BEFREE |
alpha-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I, MPS I) involves a broad spectrum of clinical severity ranging from a severe Hurler syndrome through an intermediate Hurler Scheie syndrome to a mild Scheie syndrome.
|
10466419 |
1999 |
Hurler-Scheie Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.
|
10735634 |
2000 |
Hurler-Scheie Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
We report on novel mutations of the IDUA gene in one patient with the Scheie syndrome and in three patients with the Hurler/Scheie syndrome.
|
7550232 |
1995 |
Hurler-Scheie Syndrome
|
0.770 |
Biomarker
|
disease |
BEFREE |
This review will focus on the recent outcomes and planned viral vector-mediated gene therapy clinical trials, and the pre-clinical data that supported these studies, for MPS-I (Hurler/Scheie syndrome), MPS-II (Hunter syndrome), and MPS-IIIA and -IIIB (Sanfilippo syndrome).
|
28660346 |
2017 |
Hurler-Scheie Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.
|
24368159 |
2014 |
Hurler-Scheie Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
|
11735025 |
2001 |
Hurler-Scheie Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.
|
19751987 |
2010 |
Hurler-Scheie Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
|
23786846 |
2013 |
Hurler-Scheie Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
|
22976768 |
2013 |
Hurler-Scheie Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Worldwide distribution of common IDUA pathogenic variants.
|
29393969 |
2018 |
Hurler-Scheie Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
|
1301196 |
1992 |
Hurler-Scheie Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
|
1301941 |
1992 |
Hurler-Scheie Syndrome
|
0.770 |
Therapeutic
|
disease |
CTD_human |
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
|
15081804 |
2004 |
Hurler-Scheie Syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.
|
19309154 |
2009 |
Hurler-Scheie Syndrome
|
0.770 |
Therapeutic
|
disease |
CTD_human |
Glycemic control and chronic dosing of rhesus monkeys with a fusion protein of iduronidase and a monoclonal antibody against the human insulin receptor.
|
22822036 |
2012 |
Hurler-Scheie Syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene.
|
15194053 |
2004 |
Hurler-Scheie Syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
Glycemic control and chronic dosing of rhesus monkeys with a fusion protein of iduronidase and a monoclonal antibody against the human insulin receptor.
|
22822036 |
2012 |
Hurler-Scheie Syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
|
11159948 |
2001 |
Hurler-Scheie Syndrome
|
0.770 |
Therapeutic
|
disease |
CTD_human |
Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.
|
19309154 |
2009 |
Hurler-Scheie Syndrome
|
0.770 |
Therapeutic
|
disease |
CTD_human |
Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene.
|
15194053 |
2004 |
Hurler-Scheie Syndrome
|
0.770 |
Therapeutic
|
disease |
CTD_human |
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
|
11159948 |
2001 |
Hurler-Scheie Syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
|
15081804 |
2004 |