Newborn screening for lysosomal diseases: Current status and potential interface with population medical genetics in Latin America

Journal of Inherited Metabolic Disease

Volumn 35, Issue 5, 2012, Pages 871-877

  Giugliani, Roberto ^a,b,c  

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

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c Instituto Nacional de Genética Médica Populacional INAGEMP   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE;

ARTICLE; BIOLOGICAL THERAPY; BONE MARROW TRANSPLANTATION; DIAGNOSTIC ERROR; DISEASE SEVERITY; EARLY INTERVENTION; ENZYME REPLACEMENT; FABRY DISEASE; GENE THERAPY; GENETIC ENHANCEMENT; GLOBOID CELL LEUKODYSTROPHY; GLYCOGEN STORAGE DISEASE TYPE 2; HEALTH CARE ACCESS; HEALTH CARE AVAILABILITY; HEALTH CARE QUALITY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HURLER SYNDROME; IMMUNOASSAY; LABORATORY DIAGNOSIS; LYSOSOME STORAGE DISEASE; MAROTEAUX LAMY SYNDROME; MEDICAL GENETICS; NEWBORN SCREENING; ONSET AGE; PILOT STUDY; POPULATION GENETICS; PUBLIC HEALTH SERVICE; SOUTH AND CENTRAL AMERICA; SUBSTRATE INHIBITION THERAPY; TANDEM MASS SPECTROMETRY; TREATMENT OUTCOME;

DELAYED DIAGNOSIS; FEMALE; GENETIC COUNSELING; GENETICS, MEDICAL; GENETICS, POPULATION; HUMANS; INFANT, NEWBORN; LATIN AMERICA; LYSOSOMAL STORAGE DISEASES; MALE; NEONATAL SCREENING; PILOT PROJECTS; PUBLIC HEALTH;

EID: 84866157661     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9436-z     Document Type: Article

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