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Mucopolysaccharidosis type II: skeletal-muscle system involvement
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2010)
Initial report from the hunter outcome survey
(Nature Publishing Group, 2015)
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
(Sociedade Brasileira de Genética, 2014)
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis,
and management of Hunter syndrome, a serious and progressive disease for which specific treatment ...
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
(Elsevier, 2014-08)
Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28. This is the first report of ...
Hunter syndrome: to treat or not to treat
(Blackwell Publishing, 2008-04-01)
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
(2010)
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of ...
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
(Sociedade Brasileira de Genética, 2014-06-01)
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment ...