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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Turk Pediatri Ars
Prif Awduron: Baştuğ, Osman, Kardaş, Fatih, Öztürk, Mehmet Adnan, Halis, Hülya, Memur, Şeyma, Korkmaz, Levent, Tağ, Zuhal, Güneş, Tamer
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Turkish Pediatrics Association 2014
Pynciau:
Case Report
Mynediad Ar-lein: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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