Results 151 to 158 of about 1,596 (158)

Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

Human Mutation, 2004
Shunji Tomatsu, Mirella Filocamo, Mónica A Gutierrez   +2 more
exaly  

Challenges in the diagnosis of mucopolysaccharidosis type IVA

Molecular Genetics and Metabolism
Marzia Pasquali, Yalda Saffary, Filippo Ingoglia, Judith Hobert, Elizabeth Ames, Rachel Fisher, Gustavo Maegawa, Lorenzo D. Botto, Nicola Longo   +8 more
openaire   +1 more source

Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement

American Journal of Medical Genetics, Part A, 2014
Felippe Borlot, Caio Robledo D'Angioli Costa Quaio, Israel Gomy   +2 more
exaly  

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Molecular Genetics and Metabolism, 2014
A Morrone, Anna Caciotti, Lucia Lacerda   +2 more
exaly  

Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene

Human Mutation, 2002
Mugen Terzioglu
exaly  

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA

American Journal of Medical Genetics, Part A, 2013
Hyung-Doo Park, Ah-Ra Ko, Chang-Seok Ki   +2 more
exaly  

A case of osteogenesis imperfecta mimicking the features of mucopolysaccharidosis IVA

Bone Abstracts, 2015
Yesiltepe Mutlu Gul, Hatip Aydin, Heves Kirmizibekmez, Eylem Gokmeydan   +3 more
openaire   +1 more source

PCR197 Psychometric Validation of the Mucopolysaccharidosis Health Assessment Questionnaire (MPS-HAQ) for Mucopolysaccharidosis IVA

Value in Health
Christina Due, Maureen Cleary, Derralynn Hughes, Saikat Santra, James Davison, Alexandra Morrison, Karolina Stepien   +6 more
openaire   +1 more source