Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: A new tool for the identification of Mucopolisaccharidosis IIIA and potentially other lysosomal disorders

Molecular Genetics and Metabolism

Volumn 108, Issue 4, 2013, Pages 267-268

  Civallero, G ^a,c   De Mari, J ^a   Viapiana Camelier, M ^a   Burin, M ^a   Giugliani, R ^a,b,c  

^a HCPA   (Brazil)

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

^c INAGEMP   (Brazil)

Author keywords

Dried leukocytes filter paper samples; Heparan N sulfamidase; Lysosomal storage disorders; Mucopolisaccharidosis IIIA; Sanfilippo disease type A

Indexed keywords

HEPARAN; HEPARAN N SULFAMIDASE; LYSOSOME ENZYME; UNCLASSIFIED DRUG;

ARTICLE; BLOOD SAMPLING; CELL ASSAY; ENZYME ASSAY; LEUKOCYTE; LYSOSOME; NONHUMAN; PRIORITY JOURNAL; SANFILIPPO SYNDROME; STORAGE DISEASE;

HUMANS; HYDROLASES; LEUKOCYTES; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; MUCOPOLYSACCHARIDOSIS III;

EID: 84875246725     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.02.001     Document Type: Article

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