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Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.
Lugowska, Agnieszka; Purzycka-Olewiecka, Joanna K; Ploski, Rafal; Truszkowska, Grazyna; Pronicki, Maciej; Felczak, Paulina; Spiewak, Mateusz; Podlecka-Pietowska, Aleksandra; Sitek, Martyna; Bilinska, Zofia T; Leszek, Przemyslaw; Bednarska-Makaruk, Malgorzata.
Afiliación
  • Lugowska A; Department of Genetics, Institute of Psychiatry and Neurology, Al. Sobieskiego 9, 02-957 Warsaw, Poland.
  • Purzycka-Olewiecka JK; Department of Genetics, Institute of Psychiatry and Neurology, Al. Sobieskiego 9, 02-957 Warsaw, Poland.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, ul. A. Pawinskiego 3c, 02-106 Warsaw, Poland.
  • Truszkowska G; Molecular Biology Laboratory, Department of Medical Biology, National Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw, Poland.
  • Pronicki M; Department of Pathology, The Children's Memorial Health Institute, al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Felczak P; Department of Neuropathology, Institute of Psychiatry and Neurology, Al. Sobieskiego 9, 02-957 Warsaw, Poland.
  • Spiewak M; Magnetic Resonance Unit, Department of Radiology, National Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw, Poland.
  • Podlecka-Pietowska A; Department of Neurology, Medical University of Warsaw, ul. Banacha 1a, 02-097 Warsaw, Poland.
  • Sitek M; Department of Neurology, Medical University of Warsaw, ul. Banacha 1a, 02-097 Warsaw, Poland.
  • Bilinska ZT; Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw, Poland.
  • Leszek P; Department of Heart Failure and Transplantology, National Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw, Poland.
  • Bednarska-Makaruk M; Department of Genetics, Institute of Psychiatry and Neurology, Al. Sobieskiego 9, 02-957 Warsaw, Poland.
Life (Basel) ; 12(1)2021 Dec 21.
Article en En | MEDLINE | ID: mdl-35054396

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Life (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Polonia

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Life (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Polonia