Zobrazeno 1 - 4
of 4
pro vyhledávání: '"M R Heiner-Fokkema"'
Autor:
D, van Vliet, E, van der Goot, W G, van Ginkel, H J R, van Faassen, P, de Blaauw, I P, Kema, M R, Heiner-Fokkema, E A, van der Zee, F J, van Spronsen
Publikováno v:
Molecular Genetics and Metabolism, 135(1), 27-34. ACADEMIC PRESS INC ELSEVIER SCIENCE
BACKGROUND: Large neutral amino acid (LNAA) treatment has been suggested as alternative to the burdensome severe phenylalanine-restricted diet. While its working mechanisms and optimal composition have recently been further elucidated, the question w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76446f6115993c84961683fdcf0cfb49
https://research.rug.nl/en/publications/bc2f5a62-40a6-43bc-8b7e-76c89d389338
https://research.rug.nl/en/publications/bc2f5a62-40a6-43bc-8b7e-76c89d389338
Autor:
Willemijn J. van Rijt, Derk P. Allersma, Dirk-Jan Reijngoud, Maaike H. Oosterveer, Rick Havinga, Tanja R Zijp, Terry G J Derks, Johan L.K. Van Hove, Ronald J.A. Wanders, M R Heiner-Fokkema, Frédéric M. Vaz, Jirair K. Bedoyan, Michael T. Geraghty
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 44(4), 926-938. SPRINGER
Journal of inherited metabolic disease, 44(4), 926-938. Springer Netherlands
Journal of Inherited Metabolic Disease, 44(4), 926-938. SPRINGER
Journal of inherited metabolic disease, 44(4), 926-938. Springer Netherlands
D,L-3-hydroxybutyrate (D,L-3-HB, a ketone body) treatment has been described in several inborn errors of metabolism, including multiple acyl-CoA dehydrogenase deficiency (MADD; glutaric aciduria type II). We aimed to improve the understanding of enan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db5f6d21d7453824c87e4e73ef103265
http://europepmc.org/articles/PMC8359440
http://europepmc.org/articles/PMC8359440
Publikováno v:
Annals of Clinical Biochemistry
Annals of Clinical Biochemistry, 55(6), 693-701. SAGE Publications Inc.
Annals of Clinical Biochemistry, 55(6), 693-701. SAGE Publications Inc.
Background Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most frequently used screening method is sialotransferrin profiling using isoelectric focusing (IEF). Capillary zone electrophoresis (CZE) may b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d87f9ffca0f3717df4128751664b6c73
https://pubmed.ncbi.nlm.nih.gov/29792046
https://pubmed.ncbi.nlm.nih.gov/29792046
Autor:
Jan Lindemans, Edward Sanders, Sandra G. Heil, J Maurits M Pekelharing, Ton Rammeloo, Rebecca M R Heiner-Fokkema, Robert de Jonge, Anneke C. Muller Kobold, Merel van Wijnen, Maurits C.F.J. de Rotte, Henk J Adriaansen, Paul H Trienekens
Publikováno v:
Annals of Clinical Biochemistry, 49, 184-189. SAGE Publications Ltd
Annals of Clinical Biochemistry, 49(2), 184-189. SAGE Publications Inc.
Annals of Clinical Biochemistry, 49(2), 184-189. SAGE Publications Inc.
Background Vitamin B12 deficiency occurs frequently, especially among the elderly. However, screening for vitamin B12 deficiency is hampered by poor sensitivity of the existing total vitamin B12 assay. Methylmalonic acid (MMA) is considered as the mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c2eccea2cb20ebc7d55ea4089cab27f
https://doi.org/10.1258/acb.2011.011039
https://doi.org/10.1258/acb.2011.011039