Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Anja Koehn"'
Autor:
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
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 2 (2023)
Background Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding alfa-N-acetyl-glucosaminidase. Enzyme replacement therap
Externí odkaz:
https://doaj.org/article/3ded75f715844309990af3452c9afcb6
Autor:
Nicole, Muschol, Anja, Koehn, Katharina, von Cossel, Ilyas, Okur, Fatih, Ezgu, Paul, Harmatz, Maria Jose, de Castro Lopez, Maria Luz, Couce, Shuan-Pei, Lin, Spyros, Batzios, Maureen, Cleary, Martha, Solano, Igor, Nestrasil, Brian D, Kaufman, Adam J, Shaywitz, Stephen M, Maricich, Bernice, Kuca, Joseph, Kovalchin, Eric H, Zanelli
Publikováno v:
The Journal of clinical investigation.
Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding for alfa-N-acetyl-glucosaminidase. Enzyme replacement therapy for n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ba973441d24cec11806948a9a8f39f70
https://pubmed.ncbi.nlm.nih.gov/36413418
https://pubmed.ncbi.nlm.nih.gov/36413418
Autor:
Ilyas Okur, Fatih Ezgu, Roberto Giugliani, Nicole Muschol, Anja Koehn, Hernan Amartino, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Heidi Peters, Joy Lee, Igor Nestrasil, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli
Publikováno v:
The Journal of pediatrics. 249
To characterize the longitudinal natural history of disease progression in pediatric subjects affected with mucopolysaccharidosis (MPS) IIIB.Sixty-five children with a confirmed diagnosis of MPS IIIB were enrolled into 1 of 2 natural history studies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06ad41235c50033b04013663829af070
https://pubmed.ncbi.nlm.nih.gov/35709957
https://pubmed.ncbi.nlm.nih.gov/35709957