Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Patricie Burda"'
Autor:
Géraldine Van Winckel, Diana Ballhausen, Barry Wolf, Melinda Procter, Rong Mao, Patricie Burda, Davide Strambo, Thierry Kuntzer, Christel Tran
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Biotinidase deficiency is an autosomal recessive disorder in which affected individuals are unable to recycle biotin. Untreated, children usually exhibit hypotonia, seizures, ataxia, developmental delay, and/or hearing loss. Individuals diagnosed by
Externí odkaz:
https://doaj.org/article/c682c7ba584c4e19a08a022148ec304c
Autor:
Silvin Lito, Patricie Burda, Matthias Baumgartner, Frédérique Sloan-Béna, Zsuzsanna Táncos, Julianna Kobolák, András Dinnyés, Karl-Heinz Krause, Antoine Marteyn
Publikováno v:
Stem Cell Research, Vol 41, Iss , Pp - (2019)
Mucopolysaccharidosis type I-Hurler (MPS1-H) is the most severe form of inherited metabolic diseases caused by mutations in the IDUA gene. The resulting deficiency of alpha L-iduronidase enzyme leads to a progressive accumulation of glycosaminoglycan
Externí odkaz:
https://doaj.org/article/ab0ce14b1bdb4b87825c91680080d914
Autor:
Silvin Lito, Adama Sidibe, Sten Ilmjarv, Patricie Burda, Matthias Baumgartner, Bernhard Wehrle-Haller, Karl-Heinz Krause, Antoine Marteyn
Publikováno v:
Cells, Vol 9, Iss 12, p 2593 (2020)
Background: Mucopolysaccharidosis type I-Hurler (MPS1-H) is a severe genetic lysosomal storage disorder due to loss-of-function mutations in the IDUA gene. The subsequent complete deficiency of alpha l-iduronidase enzyme is directly responsible of a
Externí odkaz:
https://doaj.org/article/c4dd60e3edf341ae89089a985542b793
Autor:
Christian Lavigne, Christoph Kessler, Matthias R. Baumgartner, Patricie Burda, François Feillet, Martina Huemer, Viktor Kožich, Mirian C. H. Janssen, Fanny Mochel, Rebecca Schüle, Pavel Ješina, Karolina M. Stepien, Adeline Regnier, Isabelle Redonnet-Vernhet, Jean-François Benoist, Cecilia Marelli
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, 44 (3), pp.777-786. ⟨10.1002/jimd.12323⟩
Journal of Inherited Metabolic Disease, 44, 777-786
Journal of Inherited Metabolic Disease 44(3), 777-786 (2021). doi:10.1002/jimd.12323
Journal of Inherited Metabolic Disease, 44, 3, pp. 777-786
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, 44 (3), pp.777-786. ⟨10.1002/jimd.12323⟩
Journal of Inherited Metabolic Disease, 44, 777-786
Journal of Inherited Metabolic Disease 44(3), 777-786 (2021). doi:10.1002/jimd.12323
Journal of Inherited Metabolic Disease, 44, 3, pp. 777-786
Item does not contain fulltext 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency usually presents as a severe neonatal disease. This study aimed to characterize natural history, biological and molecular data, and response to treatment of pa
Publikováno v:
JIMD Reports
Glycogen storage diseases (GSDs) belong to the group of inborn errors of carbohydrate metabolism. Hepatic GSDs predominantly involve the liver and most present with hepatomegaly. Biochemically they show known disturbances in glucose and fatty acids m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::519e4668ccd00661e8e624ad6b175970
https://www.zora.uzh.ch/id/eprint/197417/
https://www.zora.uzh.ch/id/eprint/197417/
Autor:
Antoine Marteyn, Adama Sidibé, Matthias R. Baumgartner, Karl-Heinz Krause, Sten Ilmjärv, Patricie Burda, Bernhard Wehrle-Haller, Silvin Lito
Publikováno v:
Cells
Volume 9
Issue 12
Cells, Vol. 9, No 12 (2020) P. 2593
Cells, Vol 9, Iss 2593, p 2593 (2020)
Volume 9
Issue 12
Cells, Vol. 9, No 12 (2020) P. 2593
Cells, Vol 9, Iss 2593, p 2593 (2020)
Background: Mucopolysaccharidosis type I-Hurler (MPS1-H) is a severe genetic lysosomal storage disorder due to loss-of-function mutations in the IDUA gene. The subsequent complete deficiency of alpha l-iduronidase enzyme is directly responsible of a
Autor:
Maurizio Molinari, Andrea Cavalli, Patricie Burda, Enrico M. A. Fassi, Jacopo Sgrignani, Matthias R. Baumgartner, Carmela Galli, Alessandro Marazza, Elisa Fasana
Publikováno v:
DNA and cell biology. 39(2)
Hunter's syndrome (mucopolysaccharidosis type II) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene. Motivated by the case of a child affected by this syndrome, we compared the intracellular fat
Autor:
Katsumi Higaki, Estelle Gallienne, Anna Biela-Banaś, Sophie Front, Olivier R. Martin, Amelia Morrone, Diana Ballhausen, Anna Caciotti, Julie Charollais-Thoenig, Stéphane Demotz, Patricie Burda
Publikováno v:
European Journal of Medicinal Chemistry. 126:160-170
This report is about the identification, synthesis and initial biological characterization of derivatives of 4-epi-isofagomine as pharmacological chaperones (PC) for human lysosomal β-galactosidase. The two epimers of 4-epi-isofagomine carrying a pe
Autor:
D. Sean Froese, Terttu Suormala, Brian Fowler, Patricie Burda, Dorothea M. Heuberger, Matthias R. Baumgartner, Alexandra Schäfer
Publikováno v:
Europe PubMed Central
Journal of inherited metabolic disease
Journal of inherited metabolic disease
5,10-Methylenetetrahydrofolate reductase (MTHFR) catalyzes the NADPH-dependent reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate using FAD as the cofactor. Severe MTHFR deficiency is the most common inborn error of folate metabo
Autor:
Nadine Nägele, D. Sean Froese, Beat Thöny, Ralph Fingerhut, Patricie Burda, Stefan Kölker, Ludger Scheja, Heidi Peters, Marie-Angela Wulf, Merima Mustedanagic, Anke Schumann, Patrick Forny, Assem Zhakupova, Thorsten Hornemann, Matthias R. Baumgartner, Joerg Heeren, Olivier Devuyst, Déborah Mathis, Claus Dieter Langhans
Publikováno v:
J Biol Chem
The Journal of biological chemistry
The Journal of biological chemistry
Methylmalonic aciduria (MMAuria), caused by deficiency of methylmalonyl-CoA mutase (MUT), usually presents in the newborn period with failure to thrive and metabolic crisis leading to coma or even death. Survivors remain at risk of metabolic decompen