Population-based surveillance for rare congenital and inherited disorders: Models and challenges

Advances in Experimental Medicine and Biology

Volumn 686, Issue , 2010, Pages 133-150

  Jackson, Jodi M ^a   Crider, Krista S ^b   Olney, Richard S ^b  

^a NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

^b NONE

Author keywords

Congenital abnormalities; Genetic diseases; Population surveillance; Rare diseases

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; HEMOGLOBIN S; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; PENICILLIN G; PLACEBO; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; BACTERIAL INFECTION; BECKER MUSCULAR DYSTROPHY; CFTR GENE; CHILD CARE; CONGENITAL DISORDER; CYSTIC FIBROSIS; DIAGNOSTIC PROCEDURE; DISEASE SURVEILLANCE; DNA DETERMINATION; DUCHENNE MUSCULAR DYSTROPHY; EARLY DIAGNOSIS; EXPERIMENTAL MODEL; FMR1 GENE; FOLLOW UP; FRAGILE X SYNDROME; GENOTYPE PHENOTYPE CORRELATION; HEALTH CARE AVAILABILITY; HEALTH CARE ORGANIZATION; HEALTH PROGRAM; HEMOPHILIA; HUMAN; INFECTION SENSITIVITY; INFORMATION DISSEMINATION; INTERNATIONAL COOPERATION; MEDICAL RESEARCH; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METABOLIC DISORDER; NEWBORN SCREENING; OUTCOME ASSESSMENT; PATHOPHYSIOLOGY; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; PROPHYLAXIS; RANDOMIZED CONTROLLED TRIAL (TOPIC); RARE DISEASE; SICKLE CELL ANEMIA; TANDEM MASS SPECTROMETRY; GENETIC ASSOCIATION; GENETICS; GOVERNMENT; HEALTH SURVEY; METHODOLOGY; NEWBORN; PUBLIC HEALTH; REVIEW; STATISTICAL MODEL; UNITED STATES;

CONGENITAL ABNORMALITIES; GENETIC ASSOCIATION STUDIES; GOVERNMENT PROGRAMS; HUMANS; INFANT, NEWBORN; MODELS, STATISTICAL; NEONATAL SCREENING; POPULATION SURVEILLANCE; PUBLIC HEALTH; RARE DISEASES; UNITED STATES;

EID: 79952058808     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-90-481-9485-8_9     Document Type: Article

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