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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Turk Pediatri Ars
Main Authors: Baştuğ, Osman, Kardaş, Fatih, Öztürk, Mehmet Adnan, Halis, Hülya, Memur, Şeyma, Korkmaz, Levent, Tağ, Zuhal, Güneş, Tamer
Format: Artigo
Jezik:Inglês
Izdano: Turkish Pediatrics Association 2014
Teme:
Case Report
Online dostop: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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