2012, Number 5
Rev Invest Clin 2012; 64 (5)
Frequency of mucopolysaccharidoses diseases at the Hospital Infantil de México Federico Gómez
Fuentes-Fuentes G, Abreu-González M, Gamboa-Marrufo JD, García-Delgado C, Consuelo-Sánchez A, Morán-Barroso VF
Language: English
References: 4
Page: 495-496
PDF size: 95.84 Kb.
Text Extraction
The mucopolysaccharidoses (MPS) are lysosomal storage diseases due to the deficiency of a given enzyme that normally should undertake the degradation of glycosaminoglycans (GAG). The specific enzymatic deficiencies cause the accumulation of GAG in the lysosome with subsequent organic dysfunction and are abnormally excreted in the urine.REFERENCES
Neufeld EF, Muenzer J, Scriver CR, Beaudet Al, Sly WS, Valle D (eds.). The metabolic and molecular bases of inherited disease. Online 2010. DOI:10.1007/s00439-001-0669-z. 2 . Baca-Quero EP, Chávez-Talavera DE, Ávila-Rejón CA. Enfermedades por depósito lisosomal: frecuencia en dos hospitales del Puerto de Veracruz. XXXVI Congreso Nacional de Genética Humana, Mérida Yucatán, Noviembre 2011.