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pro vyhledávání: '"Burton, Barbara K"'
Genotype–phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey
Autor:
Muenzer, Joseph, Amartino, Hernan, Burton, Barbara K., Scarpa, Maurizio, Tylki-Szymańska, Anna, Audi, Jennifer, Botha, Jaco, Fertek, Daniel, Merberg, David, Natarajan, Madhusudan, Whiteman, David A.H., Giugliani, Roberto
Publikováno v:
In Molecular Genetics and Metabolism September-October 2024 143(1-2)
Autor:
Guffon, Nathalie, Burton, Barbara K., Ficicioglu, Can, Magner, Martin, Gil-Campos, Mercedes, Lopez-Rodriguez, Monica A., Jayakar, Parul, Lund, Allan M., Tal, Galit, Garcia-Ortiz, Jose Elias, Stepien, Karolina M., Ellaway, Carolyn, Al-Hertani, Walla, Giugliani, Roberto, Cathey, Sara S., Hennermann, Julia B., Lampe, Christina, McNutt, Markey, Lagler, Florian B., Scarpa, Maurizio, Sutton, V. Reid, Muschol, Nicole
Publikováno v:
In Molecular Genetics and Metabolism August 2024 142(4)
Autor:
Harding, Cary O., Longo, Nicola, Northrup, Hope, Sacharow, Stephanie, Singh, Rani, Thomas, Janet A., Vockley, Jerry, Zori, Roberto T., Bulloch Whitehall, Kaleigh, Lilienstein, Joshua, Lindstrom, Kristin, Levy, Drew G., Jones, Shaun, Burton, Barbara K.
Publikováno v:
In Molecular Genetics and Metabolism Reports June 2024 39
Autor:
Burton, Barbara K., Clague, Gillian E., Harding, Cary O., Kucuksayrac, Ece, Levy, Drew G., Lindstrom, Kristin, Longo, Nicola, Maillot, François, Muntau, Ania C., Rutsch, Frank, Zori, Roberto T.
Publikováno v:
In Molecular Genetics and Metabolism January 2024 141(1)
Autor:
Burton, Barbara K., Daly, Anne
Disorders affecting the oxidation of long-chain fatty acids are complex, potentially life-threatening, metabolic conditions. A number of genetically distinct conditions exist, depending on the gene and protein affected, but there are some common clin
Autor:
Burton, Barbara K., Daly, Anne
Les troubles d'oxydation des acides gras à chaîne longue (TOAG-CL) sont des maladies héréditaires rares. Les TOAG-CL font en sorte que le corps a de la difficulté à convertir les acides gras en énergie, ce qui peut mener à des symptômes tels
Autor:
Burton, Barbara K., Daly, Anne
Defeitos de oxidação dos ácidos graxos de cadeia longa (LC-FAOD) são problemas raros e hereditários. Nos LC-FAOD, o corpo tem dificuldade para transformar a gordura em energia, o que pode resultar em sintomas como glicemia baixa, dor/fraqueza mu
Autor:
Burton, Barbara K., Daly, Anne
Les troubles d'oxydation des acides gras à chaîne longue (TOAG-CL) sont des maladies héréditaires rares. Les TOAG-CL font en sorte que le corps a de la difficulté à convertir les acides gras en énergie, ce qui peut mener à des symptômes tels
Autor:
Burton, Barbara K., Daly, Anne
Long-chain fatty acid oxidation disorders (LC-FAODs) are rare, inherited conditions. With an LC-FAOD, the body has trouble breaking down fat for energy, which can lead to symptoms such as low blood sugars, muscle pain/weakness, and heart problems. LC
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