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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-37141741
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Muscle Spasticity Type of study: Etiology_studies / Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Humans / Male Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2023 Document type: Article Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Muscle Spasticity Type of study: Etiology_studies / Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Humans / Male Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2023 Document type: Article Country of publication: