Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations.

Journal of inherited metabolic disease

Volumn 29, Issue 5, 2006, Pages 683-

  Maradin, M ^a   Fumic K ^a   Hansikova, H ^a   Tesarova, M ^a   Wenchich, L ^a   Dorner, S ^a   Sarnavka, V ^a   Zeman, J ^a   Baric I ^a  

^a KBC Zagreb   (Croatia)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARATE HYDRATASE;

ARTICLE; BRAIN; CHILD; FAMILY HEALTH; FEMALE; GENETICS; HUMAN; INBORN ERROR OF METABOLISM; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PHENOTYPE;

BRAIN; CHILD; FAMILY HEALTH; FEMALE; FUMARATE HYDRATASE; HUMANS; MAGNETIC RESONANCE IMAGING; METABOLISM, INBORN ERRORS; MUTATION; PHENOTYPE;

EID: 39049181040     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10545-006-0321-0     Document Type: Article

References (0)