Epidemiology and diagnosis of lysosomal storage disorders; Challenges of screening

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 29, Issue 2, 2015, Pages 145-157

  Kingma, Sandra D K ^a   Bodamer, Olaf A ^b   Wijburg, Frits A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

carrier screening; diagnosis; epidemiology; high risk screening; lysosomal storage disorders; newborn screening

Indexed keywords

DELAYED DIAGNOSIS; EARLY DIAGNOSIS; EPIDEMIC; GENETIC VARIABILITY; HIGH RISK POPULATION; HUMAN; LABORATORY DIAGNOSIS; LYSOSOME; LYSOSOME STORAGE DISEASE; MASS SCREENING; NEWBORN SCREENING; PHENOTYPE; REVIEW; EARLY INTERVENTION; HETEROZYGOTE DETECTION; LYSOSOMAL STORAGE DISEASES; NEWBORN; PROCEDURES; RISK ASSESSMENT;

EARLY DIAGNOSIS; EARLY MEDICAL INTERVENTION; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; LYSOSOMAL STORAGE DISEASES; NEONATAL SCREENING; RISK ASSESSMENT;

EID: 84929517022     PISSN: 1521690X     EISSN: 15321908     Source Type: Journal    
DOI: 10.1016/j.beem.2014.08.004     Document Type: Review

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