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Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.
Varvagiannis, K; Hanquinet, S; Billieux, M H; De Luca, R; Rimensberger, P; Lidgren, M; Guipponi, M; Makrythanasis, P; Blouin, J L; Antonarakis, S E; Steinfeld, R; Kern, I; Poretti, A; Fluss, J; Fokstuen, S.
Afiliación
  • Varvagiannis K; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Hanquinet S; Pediatric Radiology Unit, Department of Radiology, University Hospitals of Geneva, Geneva, Switzerland.
  • Billieux MH; Department of Gynecology and Obstetrics, University Hospitals of Geneva, Geneva, Switzerland.
  • De Luca R; Service of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Hospitals of Geneva, Geneva, Switzerland.
  • Rimensberger P; Service of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Hospitals of Geneva, Geneva, Switzerland.
  • Lidgren M; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Guipponi M; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Makrythanasis P; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Blouin JL; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Antonarakis SE; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Steinfeld R; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Kern I; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Poretti A; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Fluss J; Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany.
  • Fokstuen S; Pediatric Nephrology and Metabolism Unit, Pediatric Department, University Hospitals of Geneva, Geneva, Switzerland.
Neuropediatrics ; 49(2): 150-153, 2018 04.
Article en En | MEDLINE | ID: mdl-29284168
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Catepsina D / Mutación / Lipofuscinosis Ceroideas Neuronales Límite: Female / Humans / Infant Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Catepsina D / Mutación / Lipofuscinosis Ceroideas Neuronales Límite: Female / Humans / Infant Idioma: En Año: 2018 Tipo del documento: Article