Lysosomal storage disorders: Molecular basis and laboratory testing

Human Genomics

Volumn 5, Issue 3, 2011, Pages 156-169

  Filocamo, Mirella ^a   Morrone, Amelia ^b  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

LYSOSOMAL PROTEINS; PROTEIN;

CHORION VILLUS SAMPLING; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETICS; GENOTYPE; HUMAN; LABORATORY DIAGNOSIS; LYSOSOME STORAGE DISEASE; METABOLISM; METHODOLOGY; PHENOTYPE; PRENATAL DIAGNOSIS; REVIEW;

CHORIONIC VILLI SAMPLING; GENETIC TESTING; GENOTYPE; HUMANS; LYSOSOMAL STORAGE DISEASES; PHENOTYPE; POLYMORPHISM, GENETIC; PRENATAL DIAGNOSIS; PROTEINS; SPECIMEN HANDLING;

EID: 79961100778     PISSN: 14739542     EISSN: 14797364     Source Type: Journal    
DOI: 10.1186/1479-7364-5-3-156     Document Type: Review

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