Results 141 to 150 of about 2,011 (197)

Health-Related Quality of Life of Individuals with Physical Disabilities in Childhood. [PDF]

Children (Basel)
Church C, Patil S, Butler S, Miller F, Salazar-Torres JJ, Lennon N, Shrader MW, Donohoe M, Kalisperis F, Mackenzie WGS, Nichols LR.   +10 more
europepmc   +1 more source

Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants. [PDF]

Mol Genet Metab Rep
Wahhab SBA, Thejeal RF.
europepmc   +1 more source

Quantification of keratan sulfate in biofluids by validated HPCE-LIF: application to Morquio syndrome

Galeotti, Fabio, Zampini, Lucia, Maccari, Francesca, Monachesi, Chiara, Padella, Lucia, Santoro, Lucia, Gabrielli, Orazio, Volpi, Nicola   +7 more
openalex   +1 more source

Hearing loss in patients with Morquio A syndrome: A scoping review. [PDF]

Medicine (Baltimore)
Diaz-Ordoñez L, Duque-Cordoba PA, Silva-Cuero K, Gutierrez-Medina JD, Saldarriaga W, Murgašová L, Magner M, Candelo E, Pachajoa H.   +8 more
europepmc   +1 more source

Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS). [PDF]

Orphanet J Rare Dis
Stepien KM, Burton BK, Bober MB, Campeau PM, Ellaway C, Bhattacharya K, Guffon N, Hinds D, Hunt A, Lail A, Lin SP, Magner M, Murphy E, Reisewitz P, Mitchell JJ.   +14 more
europepmc   +1 more source

Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches. [PDF]

Mamm Genome
Marcó S, Muñoz S, Bosch F, Jimenez V.
europepmc   +1 more source

A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report. [PDF]

Cureus
Chavan S, Chalipat S, Verma S, Kumar G, Mane S.   +4 more
europepmc   +1 more source

Real-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time. [PDF]

Genet Med Open
Burton BK, Stepien KM, Campeau PM, Sutton J, Hunt A, Reisewitz P, Hinds D.   +6 more
europepmc   +1 more source

Morquio syndrome - hand

, 2012
openaire   +1 more source

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Morquio syndrome: Diagnosis in an adult

Joint Bone Spine, 2008
Morquio syndrome or mucopolysaccharidosis (MPS) type IV is a rare autosomal recessive disease in which keratan sulfate builds up in cells. There are two variants, A and B, corresponding to deficiencies of two different enzymes. Type A is usually severe, although considerable clinical variability occurs due to the existence of attenuated phenotypes ...
Catherine, Prat, Olivia, Lemaire, Johan, Bret, Laurent, Zabraniecki, Bernard, Fournié   +4 more
exaly   +3 more sources