Incidence of maple syrup urine disease in Portugal

Molecular Genetics and Metabolism

Volumn 100, Issue 4, 2010, Pages 385-387

  Quental, Sofia ^a   Vilarinho, Laura ^b   Martins, Esmeralda ^c   Teles, Elisa Leão ^d   Rodrigues, Esmeralda ^d   Diogo, Luísa ^e   Garcia, Paula ^e   Eusébio, Filomena ^f   Gaspar, Ana ^f   Sequeira, Sílvia ^g   Amorim, António ^a   Prata, Maria João ^a  

^a UNIVERSITY OF PORTO   (Portugal)

^b NATIONAL INSTITUTE OF HEALTH   (Portugal)

^c HOSPITAL MARIA PIA   (Portugal)

^d HOSPITAL DE SÃO JOÃO   (Portugal)

^e Children's Hospital of Coimbra   (Portugal)

^f HOSPITAL DE SANTA MARIA   (Portugal)

^g D Estefânia Hospital   (Portugal)

Author keywords

Incidence; Maple syrup urine disease; Portugal

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COMPARATIVE STUDY; CORRELATION ANALYSIS; HIGH RISK POPULATION; HUMAN; INCIDENCE; MAPLE SYRUP URINE DISEASE; MEDICAL RECORD REVIEW; MORBIDITY; MORTALITY; NEWBORN SCREENING; PHENOTYPE; PORTUGAL; PRIORITY JOURNAL; SCHOOL CHILD; SURVIVAL TIME; TANDEM MASS SPECTROMETRY; NEWBORN; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; HUMANS; INCIDENCE; INFANT, NEWBORN; MAPLE SYRUP URINE DISEASE; NEONATAL SCREENING; PORTUGAL; YOUNG ADULT;

ACER;

EID: 77954660357     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.04.007     Document Type: Article

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