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Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood.
Sager, Gunes; Türkyilmaz, Ayberk; Günbey, Hediye Pinar; Tas, Ibrahim; Ozhelvaci, Fatih; Akin, Yasemin.
  • Sager G; Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkiye. Electronic address: sgunessenturk@gmail.com.
  • Türkyilmaz A; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkiye.
  • Günbey HP; Department of Radiology, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkiye.
  • Tas I; Department of Pediatric Metabolism, Umraniye Training and Research Hospital, Istanbul, Turkiye.
  • Ozhelvaci F; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland.
  • Akin Y; Department of Pediatrics, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkiye.
Eur J Paediatr Neurol ; 44: 51-56, 2023 May.
Article en En | MEDLINE | ID: mdl-37141741
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Espasticidad Muscular Tipo de estudio: Etiology_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Humans / Male Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Espasticidad Muscular Tipo de estudio: Etiology_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Humans / Male Idioma: En Año: 2023 Tipo del documento: Article