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Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.
Purzycka-Olewiecka, Joanna Karolina; Hetmanczyk-Sawicka, Katarzyna; Kmiec, Tomasz; Szczesniak, Dominika; Trubicka, Joanna; Krawczynski, Maciej; Pronicki, Maciej; Lugowska, Agnieszka.
Afiliación
  • Purzycka-Olewiecka JK; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Hetmanczyk-Sawicka K; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Kmiec T; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Szczesniak D; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Trubicka J; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Krawczynski M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Pronicki M; Center for Medical Genetics GENESIS, Poznan, Poland.
  • Lugowska A; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
Metab Brain Dis ; 38(2): 709-715, 2023 02.
Article en En | MEDLINE | ID: mdl-36576693
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Células Endoteliales / Lipofuscinosis Ceroideas Neuronales Límite: Child / Humans Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Polonia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Células Endoteliales / Lipofuscinosis Ceroideas Neuronales Límite: Child / Humans Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Polonia