Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy

Genetics and Molecular Biology

Volumn 34, Issue 3, 2011, Pages 410-415

  Viana, Gustavo M ^a   de Lima, Nathália O ^a   Cavaleiro, Rosely ^a   Alves, Erik ^a   Souza, Isabel C N ^a   Feio, Raimunda ^a   Leistner Segal, Sandra ^c   Schwartz, Ida ^b,c   Giugliani, Roberto ^b,c   da Silva, Luiz C Santana ^a  

^a FEDERAL UNIVERSITY OF PARÁ   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

Enzyme replacement therapy; Glycosaminoglycans; Mucopolysaccharidosis; Mutations

Indexed keywords

ARGININE; GALSULFASE; GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE; LARONIDASE; METHIONINE; PROLINE; TRYPTOPHAN; VALINE;

ARTICLE; BRAZIL; CHEMICAL ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME REPLACEMENT; GENETIC POLYMORPHISM; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; MAROTEAUX LAMY SYNDROME; MOLECULAR BIOLOGY; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SEQUENCE ANALYSIS; TREATMENT OUTCOME; URINARY EXCRETION;

EID: 80051755646     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572011005000025     Document Type: Article

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