Results 121 to 130 of about 21,517,347 (239)

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

, 2014
Background: Morquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifespan.
Misso, K., Kate Misso, Jim McGill, Ross, J., Bekkering, T., McGill, J., Kleijnen, J., Jain, M., Roberto Giugliani, Michael Fietz, Janine Ross, Chris J Hendriksz, Shona Lang, Hock, N.L., Trudy Bekkering, Akiyama, T., Hendriksz, C.J., Olaye, A., Mohit Jain, Takeyuki Akiyama, Leadley, R.M., Ngu Lock Hock, Andrew Olaye, Giugliani, R., Lang, S., Fietz, M., Regina M Leadley, Jos Kleijnen   +27 more
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Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients

, 2014
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive inherited metabolic disease resulting from deficiency of N-acetylgalactosamine-6-sulfatase (GALNS).
ELÇİOĞLU, HURİYE NURSEL
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Clinical, biochemical and molecular findings in a two-generation Morquio A family

, 1998
Mucopolysaccharidosis type IVA (Morquio A) is caused by a deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), an enzyme capable of cleaving the sulfate group from both N-acetylgalactosamine-6-sulfate and galactose-6-sulfate.
Górska, Danuta, Górska, D., Bunge, S., Poorthuis, B. J., Tylki-Szymanska, Anna, Czartoryska, B., Poorthuis, Ben J.H.M., Czartoryska, Barbara, van Diggelen, O. P., Tylki-Szymańska, A., Kleijer, W. J., Kleijer, Wim J., Huijmans, Jan G.M., Bunge, Susanna, van Diggelen, Otto P., Huijmans, J. G.   +15 more
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ATLANTO-AXIAL SUBLUXATION IN THE MORQUIO SYNDROME

, 1973
1. The case is described of an eight-year-old girl with the Morquio syndrome (mucopolysaccharidosis type IV) who died from acute tetraplegia, due to atlanto-axial subluxation which occurred during general anaesthesia. 2.
James Craig, Peter Beighton
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Aneurisma arterio venoso carótido cavernoso

Cirugía del Uruguay, 2020
Presentado en sesión de 12 de noviembre de ...
Pedro Larghero Ibarz, R Rodríguez Barrios, J Scherchener, A. Morquio   +3 more
doaj  

A case of morquio's disease [PDF]

Archives of Disease in Childhood, 1939
openaire   +2 more sources

Chondro-Osteodystrophy. ? Morquio [PDF]

Proceedings of the Royal Society of Medicine, 1947
openaire   +2 more sources

Osteochondrodystrophy (Brailsford, Morquio) [PDF]

Proceedings of the Royal Society of Medicine, 1953
openaire   +2 more sources

A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene

, 2012
Mutations in the GLB1 gene, which encodes acid β-galactosidase, can result in two disease phenotypes: GM1-gangliosidosis (MIM #230500) and Morquio B disease (Mucopolysaccharidosis type IVB, MIM #253010).
Sohn, YB, Park, HD, Ko, AR, Ki, CS, Jin, DK, Park, SW, Kim, SH, Cho, SY, Yeau, S   +8 more
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Determinacion de caracteristicas clinicas y genotipicas de pacientes colombianos con sindrome de Morquio A [PDF]

, 2016
Introducción: El síndrome de Morquio A, es una enfermedad genética de herencia recesiva. El defecto primario es la ausencia de la enzima N-acetil-galactosamina-6-sulfato-sulfatasa (GalNAc-6-sulfatasa, GALNS E.C.3.1.6.4), responsable de la degradación ...
Tapiero Rodriguez, Sandra milena
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