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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Bibliografische gegevens
Gepubliceerd in:Turk Pediatri Ars
Hoofdauteurs: Baştuğ, Osman, Kardaş, Fatih, Öztürk, Mehmet Adnan, Halis, Hülya, Memur, Şeyma, Korkmaz, Levent, Tağ, Zuhal, Güneş, Tamer
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Turkish Pediatrics Association 2014
Onderwerpen:
Case Report
Online toegang: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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