Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: Fifteen-year experience

Clinica Chimica Acta

Volumn 400, Issue 1-2, 2009, Pages 77-81

  Wajner, Moacir ^a,b   Coelho, Daniella de Moura ^a   Ingrassia, Rafaela ^a   Oliveira, Anderson Büker de ^a   Busanello, Estela Natacha Brandt ^a   Raymond, Kimiyo ^c   Flores Pires, Ricardo ^a   Souza, Carolina Fischinger Moura de ^a   Giugliani, Roberto ^a,b   Vargas, Carmen Regla ^a,b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c MAYO CLINIC   (United States)

Author keywords

Inborn errors of metabolism; Organic acidemias; Organic acids; Organic acidurias

Indexed keywords

CARBOXYLIC ACID;

12 HYDROXYGLUTARIC ACIDURIA; 3 HYDROXY 3 METHYLGLUTARIC ACIDURIA; ACIDEMIA; ADULT; ARTICLE; BRAZIL; CYANOCOBALAMIN DEFICIENCY; DISORDERS OF CARBOHYDRATE METABOLISM; FATTY ACID OXIDATION; FEMALE; HUMAN; LACTIC ACIDEMIA; MAJOR CLINICAL STUDY; MALE; MASS FRAGMENTOGRAPHY; METABOLIC DISORDER; METHYLMALONIC ACIDEMIA; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; OUTCOME ASSESSMENT; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; SCREENING; URINALYSIS;

AWARENESS; BRAZIL; CARBOXYLIC ACIDS; CHILD; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; MALE; MASS SCREENING; METABOLISM, INBORN ERRORS; PREVALENCE; RISK; SENSITIVITY AND SPECIFICITY; TIME FACTORS;

EID: 57949099472     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2008.10.007     Document Type: Article

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