Results 111 to 120 of about 1,451,354 (224)

Construcción de un vector de expresión derivado de virus adenoasociados para corregir in vitro el defecto genético de la enfermedad de Morquio A

Biomédica: revista del Instituto Nacional de Salud, 2008
Introducción. La mucopolisacaridosis IV A (Morquio A) es una enfermedad de depósito lisosómico causada por la deficiencia en la actividad de la enzima N-acetil-galactosamina- 6-sulfato-sulfatasa que produce la acumulación intralisosómica de queratán y ...
Luis Alejandro Barrera, Mónica A. Gutiérrez, Felipe García Vallejo, Shunji Tomatsu, Flavio Cerón, Carlos J. Alméciga Díaz, Martha C. Domínguez   +6 more
doaj   +1 more source

Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI [PDF]

, 2013
Background: Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic and multisystem lysosomal storage disease with a wide disease spectrum.
Acosta, Angelina, Aranda, Carolina Sanchez, Bonatti, Renata C. F., Cardoso, Laercio, Correa Neto, Jordao, Costa, Maria Ione F., Giuliani, Liane R., Horovitz, Dafne D. G., Kerstenestzy, Marcelo, Kim, Chong A., Llerena, Juan C., Magalhaes, Tatiana S. P. C., Martins, Ana Maria, Moreira Holanda, Gervina Brady, Palhares, Durval B., Paula, Ana Carolina de, Pianovski, Mara A. D., Ribeiro, Bethania F. R., Ribeiro, Erlane M., Rodrigues, Maria do Carmo S., Santos, Francisca C., Silva, Carlos A. B. da   +21 more
core   +1 more source

Phenotypic and Genotypic Analysis of RETT Syndrome [PDF]

, 2006
4
Kárteszi Judit
core  

Morquio B disease: a case report

Frontiers in Pediatrics
Mucopolysaccharidosis IV type B, or Morquio B disease (MBD), is an autosomal recessive disorder caused by a genetic mutation in GLB1 gene encoding for β-galactosidase on chromosome 3p22.33.
Tara Gholamian, Harpreet Chhina, Sylvia Stockler, Sylvia Stockler, Anthony Cooper, Anthony Cooper   +5 more
doaj   +1 more source

Virchow-Robin spaces : an anatomic variant or a pathologic sign? [PDF]

, 2009
Virchow-Robin spaces surround blood vessels. Their walls are formed by prolongations of the pia mater and they have no communication with the subarachnoid space. VRS are often seen as well-delineated foci of cerebrospinal fluid signal on MR images.

core  

Shared Gene Expression Dysregulation Across Subtypes of Sanfilippo and Morquio Diseases: The Role of PFN1 in Regulating Glycosaminoglycan Levels

Frontiers in Bioscience-Landmark
Background: Mucopolysaccharidosis (MPS) is a class of hereditary metabolic diseases that demonstrate itself by accumulating incompletely degraded glycosaminoglycans (GAGs).
Karolina Wiśniewska, Magdalena Żabińska, Lidia Gaffke, Aneta Szulc, Beata M. Walter, Grzegorz Węgrzyn, Karolina Pierzynowska   +6 more
doaj   +1 more source

Heliox in the management of respiratory failure in a Morquio A syndrome patient with trachea narrowing

Respiratory Medicine Case Reports
Morquio A Syndrome is a mucopolysaccharide deposition disease where patients can develop respiratory failure due to airway narrowing by polysaccharide deposition, anatomical distortion and compression of the airway.
Minghan Shi, Birubi Biman
doaj   +1 more source

Child with mucopolysaccharidosis type IV: Morquio syndrome [PDF]

International Journal of Case Reports and Images, 2015
Eswat Ahmad, Sabina Manandhar, Ali Akhtar   +2 more
openaire   +1 more source

Role of elosulfase alfa in mucopolysaccharidosis IVA

The Application of Clinical Genetics, 2016
Debra S Regier, Pranoot Tanpaiboon Division of Genetics and Metabolism, Children’s National Medical Center, Washington, DC, USA Abstract: Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease
Regier DS, Tanpaiboon P
doaj  

P497: Importance of long-term follow-up in the prognosis of mucopolysaccharidosis IV-A: A case report from southwestern of Colombia

Genetics in Medicine Open
Mariana Ardila Marín, C. Toro, Jeyson Steven Rojas Banguero, Daniela Arturo Terranova, José María Satizábal Soto   +4 more
semanticscholar   +1 more source