Zobrazeno 1 - 5
of 5
pro vyhledávání: '"B. J. H. M. Poorthuis"'
Autor:
B E, Smid, C E M, Hollak, B J H M, Poorthuis, M A, van den Bergh Weerman, S, Florquin, W E M, Kok, R H, Lekanne Deprez, J, Timmermans, G E, Linthorst
Publikováno v:
Clinical genetics. 88(2)
Fabry disease' (FD) phenotype is heterogeneous: alpha-galactosidase A gene mutations (GLA) can lead to classical or non-classical FD, or no FD. The aim of this study is to describe pitfalls in diagnosing non-classical FD and assess the diagnostic val
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd77aa5b2073380c1f64f047add89c92
https://pubmed.ncbi.nlm.nih.gov/25040344
https://pubmed.ncbi.nlm.nih.gov/25040344
Publikováno v:
Journal of Lipid Research, Vol 17, Iss 4, Pp 433-437 (1976)
A two dimensional thin-layer chromatography system has been devised for the improved separation of phosphatidylglycerol and its derivatives, cardiolipin and bis(monoacylglyceryl)phosphate, from the other phospholipid components of tissue total lipid
Externí odkaz:
https://doaj.org/article/8ac1a7a47dc14918a47eac346395f65f
Publikováno v:
Diabetes research and clinical practice, 12(1), 1-9. Elsevier Ireland Ltd
To study the effects of CSII on insulin action and intermediary metabolism, seven type 1 diabetic patients (duration 17 +/- 4 (SEM) years), underwent sequential euglycemic clamps 1/4, 6 and 12 months after changing from conventional insulin treatment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::975951e00a1b87661f79596183dc44de
https://doi.org/10.1016/0168-8227(91)90124-v
https://doi.org/10.1016/0168-8227(91)90124-v
Autor:
B. J. H. M. Poorthuis, M. D. Trip, M. Helmond, V. E. A. Gerdes, A. C. Vedder, Johannes M. F. G. Aerts, C. E. M. Hollak
Publikováno v:
Journal of inherited metabolic disease, 30(6). Springer Netherlands
ResearcherID
ResearcherID
Fabry disease, or alpha-galactosidase A (alpha-Gal A) deficiency, is a lysosomal storage disorder in which accumulation of globotriaosylceramide (Gb(3)) is thought to be responsible for the development of renal, cardiac and cerebral complications. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2eb307850a7b0786951997599900a9b
https://doi.org/10.1007/s10545-007-0721-9
https://doi.org/10.1007/s10545-007-0721-9
Autor:
Ruud B.H. Schutgens, Frits A. Wijburg, M. K. Sanders, L. G. F. M. van't Hek, J. W. E. Oorthuys, B. J. H. M. Poorthuis, D. S. Rosenblatt, G. D. Vos
Publikováno v:
European journal of pediatrics, 151(2), 127-131. Springer Verlag
Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::275c9c07e82ed6fcc4e03e10bc667ea6
https://pubmed.ncbi.nlm.nih.gov/1537354
https://pubmed.ncbi.nlm.nih.gov/1537354