Results 111 to 120 of about 21,517,347 (239)

Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB

, 1977
A 14-year-old white girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome.
Stevenson, R E, Arbisser, A I, DiFerrante, N, Howell, R R, Scott, Jr, C I, Singh, J, Aylesworth, A S, Donnelly, K A   +7 more
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Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open‐label, phase 2 study

American Journal of Medical Genetics. Part A, 2016
Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open‐label, phase 2, multi‐national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6‐min walk test.
P. Harmatz, E. Mengel, T. Geberhiwot, N. Muschol, C. Hendriksz, B. Burton, E. Jameson, K. Berger, A. Jester, M. Treadwell, Z. Sisic, C. Decker   +11 more
semanticscholar   +1 more source

Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients

, 2009
Aim: To investigate extracellular matrix (ECM) characteristics of cortical bone and articular cartilage of patients with Morquio syndrome A, a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase.
Everts, Vincent, Everts, V., Maaswinkel, Petra D., Bank, R.A., Bank, Ruud A., Schut, H.A., van Gemund, Justus J., Hoeben, Kees A., van Gemund, J.J., Groener, Johanna E. M., Groener, J.E.M., Hoeben, K.A., Maaswinkel, P.D., Schut, Herman A.   +13 more
core   +1 more source

30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case

Molecular Genetics and Metabolism Reports, 2016
Patients under 5 years were not evaluated in the phase-3 study for enzyme replacement therapy (ERT) in MPS IV A. Here we describe the evolution of a severe Morquio A pediatric patient who was diagnosed at 19 months old and treated by ERT at 21 months old
J. D. Cao, A. Wiedemann, T. Quinaux, S. Battaglia-Hsu, L. Mainard, R. Froissart, C. Bonnemains, S. Ragot, B. Leheup, P. Journeau, F. Feillet   +10 more
semanticscholar   +1 more source

Intellectual and neurological functioning in Morquio syndrome (MPS IVa).

, 2012
Mucopolysaccharidosis type IVa (MPS IVa, Morquio syndrome OMIM #253000) is a lysosomal storage disease caused by deficiency in N-acetylgalactosamine-6-sulfatase (GALNS, EC 3.1.6.4; encoded by GALNS gene at 16q24.3).
Kearney, S, J. Horton, A. C. Peet, C. J. Hendriksz, Horton, J, Peet, Andrew, S. Kearney, Davison, James, J. E. Davison, Foster, K, K. Foster, Hendriksz, CJ   +11 more
core   +1 more source

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome

Journal of Inherited Metabolic Disease, 2016
ObjectiveTo present long-term respiratory function outcomes from an open-label, multi-center, phase 3 extension study (MOR-005) of elosulfase alfa enzyme replacement therapy (ERT) in patients with Morquio A syndrome.MethodsIn part 1 of MOR-005, patients ...
C. Hendriksz, K. Berger, R. Parini, M. AlSayed, J. Raiman, R. Giugliani, John J. Mitchell, B. Burton, N. Guelbert, F. Stewart, D. Hughes, Robert A. Matousek, E. Jurecki, C. Decker, P. Harmatz   +14 more
semanticscholar   +1 more source

Mukopolisakkaridozis Tip IVA (Morquio Sendromu)

, 2012
Morquio sendromu, mukopolisakkarit metabolizmasındaki bozukluk ile karakterize otozomal resesif geçişli nadir rastlanan iskeletsel displazidir. Hastalığın iki formu vardır.
Kaptan, Arife, Öznurhan, Fatih, Aksoy, Serkan, Koçkanat, Arzu   +3 more
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Various Cells Retrovirally Transduced with N -Acetylgalactosoamine-6-Sulfate Sulfatase Correct Morquio Skin Fibroblasts In Vitro

, 2001
Gene therapy may provide a long-term approach to the treatment of mucopolysaccharidoses. As a first step toward the development of an effective gene therapy for mucopolysaccharidosis type IVA (Morquio syndrome), a recombinant retroviral vector, LGSN ...
Tortora, Paolo, Bordignon, Claudio, Traversari, Catia, Kondo, Naomi, Sukegawa, Kazuko, Fukuda, Seiji, Toietta, Gabriele, Severini, Giovanni Maria, Tomatsu, Shunji   +8 more
core   +1 more source

Noticias médicas: organización del VII congreso de la unión internacional sobre protección a la infancia [PDF]

, 1932
El doctor A. Lesage, Presidente del Comité que organiza el VII Congreso de la Unión Internacional de Protección a la Infancia, a realizarse en París del 5 al 9 de julio de 1933, me pide quiera interesarme por hacer formar los Comités Nacionales que en ...
Morquio, Luis, Luis Morquio
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Multidisciplinary treatment approach of Morquio Syndrome (mucopolysaccharidosis type IVA)

, 2006
Morquio syndrome (mucopolysaccharidosis type IVA) is an autosomal recessive disorder caused by the accumulation of mucopolysaccharides in lysosomes because of the deficiency of N-acetylgalactosamine-6-sulphate sulphatase.
Ertan Erdinç A.M., Cal E., Önçag G.
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