Results 131 to 140 of about 21,517,347 (239)

Conducta perioperatoria en pacientes con Mucopolisacaridosis tipo IV. Presentación de un caso

Revista Cubana de Anestesiología y Reanimación, 2003
Introducción: Las mucopolisacaridosis son un grupo raro de enfermedad familiarprogresiva del metabolismo del tejido conectivo causada por ausencia ó insuficiencia deenzimas claves en el metabolismo de sus tres componentes principales.
Reynier Redondo Gómez, Ulysses Jiménez Alba, Juliette Suárez López, Herenia Placencia, Lourdes Arce Despaigne, Alexis González Páez   +5 more
doaj  

Bone mineral density in two children with Morquio syndrome

, 2000
We report on two children with Morquio syndrome presentivng a severely rediced bone mineral density at the dual X-ray ...
Rigante, Donato
core  

Correction to "Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA)". [PDF]

ACS Omega
Priya N M, Vasudevan V, N SK, Ahmed SS, Ramasamy M.   +4 more
europepmc   +1 more source

TAVI-in-TAVI in a patient with morquio syndrome: a case report. [PDF]

Eur Heart J Case Rep
Chin DXL, De Michele G, Cristofani D, De Felice F.   +3 more
europepmc   +1 more source

Development of Small-Molecule Allosteric Modulators of Beta-Galactosidase (β-Gal) for the Treatment of GM1 Gangliosidosis and Morquio B. [PDF]

Int J Mol Sci
Pérez-Carmona N, Cubero E, Ruano A, Pons-Vizcarra M, Delgado A, Trapero A, Reves M, Rodríguez-Pascau L, Taylor J, Martinell M, Barril X, García-Collazo AM.   +11 more
europepmc   +1 more source

Morquio syndrome

, 2010
Basab Bhattacharya, Liz Silverstone, Arlene Campos   +2 more
openaire   +1 more source

Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families with <i>SGSH</i> and <i>GALNS</i> Deficiencies. [PDF]

Genes (Basel)
Awan FN, Zulfiqar S, Eiman L, Asif M, Hussain MS, Dahl N, Baig SM, Oda H.   +7 more
europepmc   +1 more source

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

, 2018
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).
여성희
core  

Craniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review. [PDF]

Cureus
Rakshit P, Sadayandi Ramesh A, Gopikrishnan R, Mani MK, Sathia Prabhu A.   +4 more
europepmc   +1 more source

Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts. [PDF]

Int J Mol Sci, 2023
Brokowska J, Gaffke L, Pierzynowska K, Węgrzyn G.   +3 more
europepmc   +1 more source