Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

Molecular Genetics and Metabolism

Volumn 104, Issue 4, 2011, Pages 470-475

  Couce, Ma Luz ^a   Castiñeiras, Daisy E ^a   Bóveda, Ma Dolores ^a   Baña, Ana ^a   Cocho, José A ^a   Iglesias, Agustín J ^a   Colón, Cristobal ^a   Alonso Fernández, José R ^a   Fraga, José M ^a  

^a Pediatric Nutrition Research Group Health Research Institute of Santiago de Compostela   (Spain)

Author keywords

Dried urine samples; Expanded newborn screening; Inborn errors of metabolism; Psychomotor Development Index; Tandem mass spectrometry

Indexed keywords

BIOLOGICAL MARKER;

ARTICLE; BLOOD SAMPLING; FALSE POSITIVE RESULT; FOLLOW UP; HUMAN; HYPERPHENYLALANINEMIA; INBORN ERROR OF METABOLISM; INCIDENCE; INFANT; MAJOR CLINICAL STUDY; MORTALITY; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SPAIN; SURVIVOR; SYMPTOM; TANDEM MASS SPECTROMETRY; URINALYSIS;

BIOLOGICAL MARKERS; FALSE POSITIVE REACTIONS; FOLLOW-UP STUDIES; HUMANS; INCIDENCE; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; SPAIN;

EID: 82255192456     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.09.021     Document Type: Article

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