Fumaric aciduria: An overview and the first Brazilian case report

Journal of Inherited Metabolic Disease

Volumn 33, Issue 4, 2010, Pages 411-419

  Allegri, Gabriella ^a   Fernandes, Marcia J ^a   Scalco, Fernanda B ^a   Correia, Patricia ^b   Simoni, Ruth E ^a   Llerena Jr , Juan C ^b   De Oliveira, Maria L Costa ^a  

^a FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^b INSTITUTO OSWALDO CRUZ   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CITRULLINE; FUMARIC ACID; METHIONINE; TYROSINE; FUMARATE HYDRATASE; FUMARIC ACID DERIVATIVE;

ACIDURIA; ARTICLE; BLOOD LEVEL; BRAIN MALFORMATION; BRAZIL; CASE REPORT; CLINICAL FEATURE; COLPOCEPHALY; FEMALE; FUMARIC ACIDURIA; HUMAN; INFANT; LIVER DISEASE; METABOLIC ACIDOSIS; MICROCEPHALY; MUSCLE HYPOTONIA; URINARY EXCRETION; VENTRICULOMEGALY; FAMILY HEALTH; GENETICS; METABOLISM; METABOLISM, INBORN ERRORS; URINE;

BRAZIL; FAMILY HEALTH; FEMALE; FUMARATE HYDRATASE; FUMARATES; HUMANS; INFANT; METABOLISM, INBORN ERRORS;

EID: 77956057375     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9134-2     Document Type: Article

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