Universal screening for inherited metabolic diseases in the neonate (and the fetus)

Journal of Maternal-Fetal and Neonatal Medicine

Volumn 25, Issue SUPPL. 5, 2012, Pages 4-6

  Scala, Iris ^a   Parenti, Giancarlo ^a   Andria, Generoso ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Inborn errors of metabolism; Inherited metabolic diseases; Universal newborn screening

Indexed keywords

ACYLCARNITINE; AMINO ACID; CELL FREE FETAL DNA; DNA; UNCLASSIFIED DRUG;

ALPHA THALASSEMIA; AMINO ACID BLOOD LEVEL; BETA THALASSEMIA; BIOTINIDASE DEFICIENCY; CLINICAL PRACTICE; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL HYPOTHYROIDISM; CYSTIC FIBROSIS; DIAGNOSTIC ACCURACY; DISEASE COURSE; DNA DETERMINATION; DRIED BLOOD SPOT TESTING; EARLY DIAGNOSIS; GALACTOSEMIA; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; GESTATIONAL AGE; HEMOPHILIA; HIGH THROUGHPUT SCREENING; HUMAN; HUMAN GENOME; INBORN ERROR OF METABOLISM; LEBER CONGENITAL AMAUROSIS; LIPID BLOOD LEVEL; LYSOSOME STORAGE DISEASE; MAPLE SYRUP URINE DISEASE; MATERNAL BLOOD; MEDICAL ETHICS; MUTATIONAL ANALYSIS; NEWBORN CARE; NEWBORN MORBIDITY; NEWBORN MORTALITY; NEWBORN SCREENING; NEXT GENERATION SEQUENCING; NON INVASIVE PROCEDURE; PHENYLKETONURIA; POLITICS; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; QUANTITATIVE ANALYSIS; REVIEW; SEQUENCE ANALYSIS; TANDEM MASS SPECTROMETRY;

ACYL-COA DEHYDROGENASE; AMINO ACIDS; CARNITINE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PAPER; PHENYLKETONURIAS; PREGNANCY; PRENATAL DIAGNOSIS; TANDEM MASS SPECTROMETRY;

EID: 84867015077     PISSN: 14767058     EISSN: 14764954     Source Type: Journal    
DOI: 10.3109/14767058.2012.716983     Document Type: Review

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