scholarly journals Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

2011 ◽  
Vol 6 (1) ◽  
pp. 39 ◽  
Author(s):  
Latifa Chkioua ◽  
Souhir Khedhiri ◽  
Asma Kassab ◽  
Amina Bibi ◽  
Salima Ferchichi ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Novel Mutation ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I

scholarly journals Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolyscaridosis type I and litature review of molecular basis

2021 ◽  
Author(s):  
nuha alzaabi ◽  
muneera sirajum ◽  
Mohd Zaki Al-Wawi ◽  
Mohammed Alsuwaiji
Keyword(s):  
Molecular Basis ◽  
Novel Mutation ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Early Presentation ◽  
Idua Gene

The IDUA gene (MIM 252800) provides instructions for producing alpha-L-iduronidase, which is essential for the breakdown of glycosaminoglycans (GAGs). Mutations in the IDUA gene have been found to cause mucopolysaccharidosis type I (MIM 607014). This leads to the accumulation of GAGs within lysosomes causing different organs to be dysfunctional.

Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I

2021 ◽  
Author(s):  
Johannes Roth ◽  
Michal Inbar-Feigenberg ◽  
Julian Raiman ◽  
Marg Bisch ◽  
Pranesh Chakraborty ◽  
...  
Keyword(s):  
Knee Joints ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Ultrasound Findings

scholarly journals Sexual behaviour in a murine model of mucopolysaccharidosis type I (MPS I)

PLoS ONE ◽  
2019 ◽  
Vol 14 (12) ◽  
pp. e0220429 ◽  
Author(s):  
Ana Barbosa Mendes ◽  
Cinthia Castro do Nascimento ◽  
Vânia D’Almeida
Keyword(s):  
Sexual Behaviour ◽  
Murine Model ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Mps I

scholarly journals 430. Antibodies to Recombinant Human α-L-Iduronidase Enhance Uptake into Macrophages in Murine Mucopolysaccharidosis Type I

2016 ◽  
Vol 24 ◽  
pp. S170-S171
Author(s):  
Valentina Sanghez ◽  
Shih-Hsin Kan ◽  
Steven Q Le ◽  
Don Clarke ◽  
Kristen Vondrak ◽  
...  
Keyword(s):  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I

scholarly journals Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB

PLoS ONE ◽  
2012 ◽  
Vol 7 (4) ◽  
pp. e35787 ◽  
Author(s):  
Fiona L. Wilkinson ◽  
Rebecca J. Holley ◽  
Kia J. Langford-Smith ◽  
Soumya Badrinath ◽  
Aiyin Liao ◽  
...  
Keyword(s):  
Mouse Models ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I

scholarly journals Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice

2012 ◽  
Vol 233 (1) ◽  
pp. 169-175 ◽  
Author(s):  
Guilherme Baldo ◽  
Fabiana Quoos Mayer ◽  
Barbara Martinelli ◽  
Anna Dilda ◽  
Fabiola Meyer ◽  
...  
Keyword(s):  
Motor Dysfunction ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I
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