scholarly journals Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations

2002 ◽  
Vol 20 (3) ◽  
pp. 231-231 ◽  
Author(s):  
N. Venturi ◽  
A. Rovelli ◽  
R. Parini ◽  
F. Menni ◽  
F. Brambillasca ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Type I ◽  
Italian Population ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Novel Mutations ◽  
Mutational Spectrum

Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α-L-iduronidase gene

1995 ◽  
Vol 6 (1) ◽  
pp. 91-94 ◽  
Author(s):  
Susanna Bunge ◽  
Wim J. Kleijer ◽  
Cordula Steglich ◽  
Michael Beck ◽  
Eberhard Schwinger ◽  
...  
Keyword(s):  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Novel Mutations

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

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
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