A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey

Fumaric aciduria is a rare autosomal recessive metabolic disease which is characterized with excessive fumaric acid exretion in urine. In the prenatal period, polyhydramniosis, intrauterine growth retardation, enlarged brain ventricles and brain anomalies are observed. Growth and development failure...

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Detalhes bibliográficos
Publicado no:Turk Pediatri Ars
Main Authors: Baştuğ, Osman, Kardaş, Fatih, Öztürk, Mehmet Adnan, Halis, Hülya, Memur, Şeyma, Korkmaz, Levent, Tağ, Zuhal, Güneş, Tamer
Formato: Artigo
Idioma:Inglês
Publicado em: Turkish Pediatrics Association 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4462270/
https://ncbi.nlm.nih.gov/pubmed/26078636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5152/tpa.2014.442
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