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dc.contributor.authorElkay, M
dc.contributor.authorOnenli-Mungan, N
dc.contributor.authorTopaloglu, AK
dc.contributor.authorYuksel, B
dc.contributor.authorOzer, G
dc.contributor.authorBaykal, T
dc.date.accessioned2021-03-04T18:31:52Z
dc.date.available2021-03-04T18:31:52Z
dc.date.issued2004
dc.identifier.citationOnenli-Mungan N., Yuksel B., Elkay M., Topaloglu A., Baykal T., Ozer G., "Type II hyperprolinemia: a case report", TURKISH JOURNAL OF PEDIATRICS, cilt.46, ss.167-169, 2004
dc.identifier.issn0041-4301
dc.identifier.othervv_1032021
dc.identifier.otherav_8b347e1d-a188-4fd0-a753-c1cbe0f60413
dc.identifier.urihttp://hdl.handle.net/20.500.12627/94268
dc.description.abstractHyperprolinemia type II (HP II) is a rare inherited metabolic disease due to the deficiency of pyroline-5-carboxylate dehydrogenase. It is generally believed to be a benign condition although some patients have neurological problems such as refractory convulsions. Here we report a six-year-old girl with HP II who admitted to our hospital with recurrent seizure refractory to multiple antiepileptic drugs. She was the third child of healthy, consanguineous parents. The family history was negative for neurological and renal disorders. On physical examination, she had no facial dysmorphy; the anthropometric measurements, and systemic and neurological examinations were normal. Mental and motor development was appropriate for her age.
dc.language.isoeng
dc.subjectKlinik Tıp
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectDahili Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectKlinik Tıp (MED)
dc.subjectPEDİATRİ
dc.titleType II hyperprolinemia: a case report
dc.typeMakale
dc.relation.journalTURKISH JOURNAL OF PEDIATRICS
dc.contributor.department, ,
dc.identifier.volume46
dc.identifier.issue2
dc.identifier.startpage167
dc.identifier.endpage169
dc.contributor.firstauthorID171316


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