Sanfilippo-Syndrom (German Wikipedia)

Analysis of information sources in references of the Wikipedia article "Sanfilippo-Syndrom" in German language version.

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allievex.com

doi.org

  • Marlies J. Valstar et al.: Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. In: J Inherit Metab Dis, 2010, 33, S. 759–767 doi:10.1007/s10545-010-9199-y
  • Nicole Muschol, Anja Koehn, Katharina von Cossel, Ilyas Okur, Fatih Ezgu, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Igor Nestrasil, Brian Kaufman, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli: A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B. In: The Journal of Clinical Investigation. Band 133, Nr. 2, 17. Januar 2023, ISSN 0021-9738, doi:10.1172/JCI165076 (jci.org [abgerufen am 31. März 2023]).
  • E. Y. Tan, J. J. Boelens, S. A. Jones, R. F. Wynn: Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism. In: Frontiers in pediatrics. Band 7, 2019, S. 433, doi:10.3389/fped.2019.00433, PMID 31709204, PMC 6824291 (freier Volltext) (Review).
  • N. Benetó, L. Vilageliu, D. Grinberg, I. Canals: Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches. In: International Journal of Molecular Sciences. Band 21, Nummer 21, Oktober 2020, S. , doi:10.3390/ijms21217819, PMID 33105639, PMC 7659972 (freier Volltext) (Review).
  • Alessandra Biffi, Michele De Palma, Angelo Quattrini, Ubaldo Del Carro, Stefano Amadio, Ilaria Visigalli, Maria Sessa, Stefania Fasano, Riccardo Brambilla, Sergio Marchesini, Claudio Bordignon, Luigi Naldini: Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. In: The Journal of clinical investigation. Band 113, Nummer 8, April 2004, S. 1118–1129, doi:10.1172/JCI19205, PMID 15085191, PMC 385395 (freier Volltext).
  • Alessio Cantore, Luigi Naldini: WFH State-of-the-art paper 2020: In vivo lentiviral vector gene therapy for haemophilia. In: Haemophilia. Band 27 Suppl 3, Februar 2021, S. 122–125, doi:10.1111/hae.14056, PMID 32537776, PMC 7984334 (freier Volltext) (Review).

jci.org

  • Nicole Muschol, Anja Koehn, Katharina von Cossel, Ilyas Okur, Fatih Ezgu, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Igor Nestrasil, Brian Kaufman, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli: A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B. In: The Journal of Clinical Investigation. Band 133, Nr. 2, 17. Januar 2023, ISSN 0021-9738, doi:10.1172/JCI165076 (jci.org [abgerufen am 31. März 2023]).

jpeds.com

  • Sylvester J Sanfilippo, Robert Podosin, Leonard Langer, Robert A Good: Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). In: J Pediatrics 63, 4, 1963: 837–838. PDF kostenpflichtig.

nih.gov

ncbi.nlm.nih.gov

  • Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome). PMC 3130633 (freier Volltext)
  • A. Vellodi u. a.: Bone marrow transplantation for Sanfilippo disease type B. In: J Inherit Metab Dis 15, 1992: 911–918. PMID 1293388
  • E. Y. Tan, J. J. Boelens, S. A. Jones, R. F. Wynn: Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism. In: Frontiers in pediatrics. Band 7, 2019, S. 433, doi:10.3389/fped.2019.00433, PMID 31709204, PMC 6824291 (freier Volltext) (Review).
  • N. Benetó, L. Vilageliu, D. Grinberg, I. Canals: Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches. In: International Journal of Molecular Sciences. Band 21, Nummer 21, Oktober 2020, S. , doi:10.3390/ijms21217819, PMID 33105639, PMC 7659972 (freier Volltext) (Review).
  • Alessandra Biffi, Michele De Palma, Angelo Quattrini, Ubaldo Del Carro, Stefano Amadio, Ilaria Visigalli, Maria Sessa, Stefania Fasano, Riccardo Brambilla, Sergio Marchesini, Claudio Bordignon, Luigi Naldini: Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. In: The Journal of clinical investigation. Band 113, Nummer 8, April 2004, S. 1118–1129, doi:10.1172/JCI19205, PMID 15085191, PMC 385395 (freier Volltext).
  • Alessio Cantore, Luigi Naldini: WFH State-of-the-art paper 2020: In vivo lentiviral vector gene therapy for haemophilia. In: Haemophilia. Band 27 Suppl 3, Februar 2021, S. 122–125, doi:10.1111/hae.14056, PMID 32537776, PMC 7984334 (freier Volltext) (Review).

zdb-katalog.de

  • Nicole Muschol, Anja Koehn, Katharina von Cossel, Ilyas Okur, Fatih Ezgu, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Igor Nestrasil, Brian Kaufman, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli: A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B. In: The Journal of Clinical Investigation. Band 133, Nr. 2, 17. Januar 2023, ISSN 0021-9738, doi:10.1172/JCI165076 (jci.org [abgerufen am 31. März 2023]).