The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: Evaluation of protocol and influence of baseline phenylalanine concentration

Autor: M. van Rijn, M. E. Rubio-Gozalbo, R.G. Janssen-Regelink, H.E.E. Zweers-van Essen, M.R. Heiner-Fokkema, N.A. van der Herberg-van de Wetering, C. C. Boelen, M.C. de Vries, C. E. M. Hollak, G. Venema, Annet M. Bosch, E.M.C. van der Ploeg, F. J. van Spronsen, N.M. Ter Horst, C. Jonkers, F.C. Hofstede, E. C. Carbasius Weber, Mirian C. H. Janssen, Karen Anjema

Publikováno v: Molecular genetics and metabolism, 104(Suppl), S60-S63. Academic Press Inc.
Molecular Genetics and Metabolism, 104 Suppl, pp. S60-3
Molecular Genetics and Metabolism, 104, S60-S63. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 104 Suppl, S60-3
Molecular Genetics and Metabolism, 104, S60-S63. Academic Press Inc.

Item does not contain fulltext BACKGROUND: The 24- and 48-hour tetrahydrobiopterin (BH4) loading test (BLT) performed at a minimum baseline phenylalanine concentration of 400 mumol/l is commonly used to test phenylketonuria patients for BH4 responsiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff825ac137c9868dd923afda1cb7bdb7
https://doi.org/10.1016/j.ymgme.2011.09.024

Energy expenditure in patients with propionic and methylmalonic acidaemias

Autor: Ruud Berger, E. C. Carbasius Weber, C. C. van Hagen, Th. A .M. van den Hurk, T. J. de Koning, L. Dorland, J. H. Oudshoorn

Publikováno v: Journal of Inherited Metabolic Disease. 27:111-112

Resting energy expenditure (REE) was investigated in 8 children with propionic and methylmalonic acidaemias because a lowered REE has been reported in the literature. We observed a marginally elevated REE and think that adequate caloric intake and th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c39b64393c14e0096a44d43373677c
https://doi.org/10.1023/b:boli.0000016678.78134.7d