scholarly journals Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein

2009 ◽  
Vol 149A (5) ◽  
pp. 965-974 ◽  
Author(s):  
Alzbeta Vazna ◽  
Clare Beesley ◽  
Linda Berna ◽  
Larisa Stolnaja ◽  
Helena Myskova ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Functional Importance ◽  
C Terminus

scholarly journals Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I

2019 ◽  
Vol 33 (8) ◽  
Author(s):  
Mohammad Taghikhani ◽  
Shohreh Khatami ◽  
Mohammad Abdi ◽  
Mohammad Said Hakhamaneshi ◽  
Mohammad Reza Alaei ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Iranian Patients

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations

1994 ◽  
Vol 3 (3) ◽  
pp. 275-282 ◽  
Author(s):  
Lorne A. Clarke ◽  
Paul V. Nelson ◽  
Cara L. Warrington ◽  
C. Phillip Morris ◽  
John J. Hopwood ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
North American ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Frequent Mutations

Molecular Genetics of Mucopolysaccharidosis Type I: Mutation Analysis among the Patients of the Former Soviet Union

1998 ◽  
Vol 65 (2) ◽  
pp. 174-180 ◽  
Author(s):  
Elena Y. Voskoboeva ◽  
Xenia D. Krasnopolskaya ◽  
T.V. Mirenburg ◽  
Birgit Weber ◽  
John J. Hopwood
Keyword(s):  
Soviet Union ◽  
Molecular Genetics ◽  
Mutation Analysis ◽  
Former Soviet Union ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I

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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