Expression of the disease on female carriers of X-linked lysosomal disorders: A brief review

Orphanet Journal of Rare Diseases

Volumn 5, Issue 1, 2010, Pages

  Pinto, Louise L C ^a,b   Vieira, Taiane A ^a,b   Giugliani, Roberto ^a   Schwartz, Ida V D ^a,b  

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

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; LYSOSOME ENZYME;

CLINICAL FEATURE; COMPARATIVE STUDY; DISEASE SEVERITY; ENZYME RELEASE; FABRY DISEASE; FEMALE; HETEROZYGOTE; HUMAN; HUNTER SYNDROME; LYSOSOME STORAGE DISEASE; NONHUMAN; PENETRANCE; REVIEW; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER; CLASSIFICATION; GENETICS; PATHOLOGY;

FABRY DISEASE; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MUCOPOLYSACCHARIDOSIS II;

EID: 77952713435     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-5-14     Document Type: Review

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