Expanded newborn screening in the Region of Murcia, Spain. Three-years experience;Cribado neonatal ampliado en la Región de Murcia. Experiencia de tres años

Medicina Clinica

Volumn 139, Issue 13, 2012, Pages 566-571

  Juan Fita, María Jesús ^a   Egea Mellado, José María ^a   González Gallego, Inmaculada ^a   Moya Quiles, María Rosa ^a   Fernández Sánchez, Asunción ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

Author keywords

Dried blood spot sample; Expanded neonatal screening; Inherited metabolic disease; Mass Spectrometry

Indexed keywords

ARTICLE; BIOTINIDASE DEFICIENCY; COLORIMETRY; CONGENITAL HYPOTHYROIDISM; CYSTIC FIBROSIS; FALSE NEGATIVE RESULT; FLUOROIMMUNOASSAY; HUMAN; MAJOR CLINICAL STUDY; MASS SPECTROMETRY; METABOLIC DISORDER; NEWBORN; NEWBORN SCREENING; PREDICTIVE VALUE; SPAIN;

ACYL-COA DEHYDROGENASE; AMINO ACID METABOLISM, INBORN ERRORS; BIOTINIDASE DEFICIENCY; COLORIMETRY; CONGENITAL HYPOTHYROIDISM; CYSTIC FIBROSIS; EARLY DIAGNOSIS; FEMALE; GENETIC TESTING; HUMANS; IMMUNOENZYME TECHNIQUES; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PREDICTIVE VALUE OF TESTS; REPRODUCIBILITY OF RESULTS; SPAIN; TANDEM MASS SPECTROMETRY;

EID: 84868543602     PISSN: 00257753     EISSN: 15788989     Source Type: Journal    
DOI: 10.1016/j.medcli.2011.10.007     Document Type: Article

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