Zobrazeno 1 - 6
of 6
pro vyhledávání: '"C E, Hollak"'
Autor:
Benedikt Preckel, Jorinde A. W. Polderman, E. J. Nieveen van Dijkum, Mendy M. Welsink-Karssies, C. E. Hollak, Gepke Visser, Wolfgang Schlack, Jeroen Hermanides
Publikováno v:
JIMD Reports ISBN: 9783662555859
JIMD reports, 34, 49-54. Springer Berlin
JIMD reports, 34, 49-54. Springer Berlin
Surgery and anesthesia pose a threat to patients with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), because prolonged fasting, stress, and pain are known risk factors for the induction of metabolic derangement. The optimal perioperative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c0d07de5fe7f95a5865997fe332d3bb
https://doi.org/10.1007/8904_2016_6
https://doi.org/10.1007/8904_2016_6
Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease
Autor:
J. Aten, Marri Verhoek, Johannes M. F. G. Aerts, J. E. Groener, Rolf G. Boot, Frits A. Wijburg, S. Scheij, C. E. Hollak, J. Brinkman
Publikováno v:
ResearcherID
Journal of inherited metabolic disease, 28(1), 13-20. Springer Netherlands
Journal of inherited metabolic disease, 28(1), 13-20. Springer Netherlands
Type B Niemann-Pick disease (NPD) is a nonneuronopathic lysosomal storage disorder which is characterized by accumulation of sphingomyelin-laden macrophages. The availability of plasma markers for storage cells may be of great value in facilitating t
Autor:
J M, Aerts, C E, Hollak
Publikováno v:
Bailliere's clinical haematology. 10(4)
An overview of the most important plasma abnormalities that can be found in Gaucher's disease is presented in this chapter. Attention is focussed on their practical applications and possible clinical relevance. In addition, the result of studies on m
Autor:
R G, Boot, C E, Hollak, M, Verhoek, P, Sloof, B J, Poorthuis, W J, Kleijer, R A, Wevers, M H, van Oers, M M, Mannens, J M, Aerts, S, van Weely
Publikováno v:
Human mutation. 10(5)
Gaucher disease is a recessively inherited lysosomal storage disorder that is caused by a deficiency in glucocerebrosidase activity. The clinical expression is markedly heterogeneous with respect to age of onset, progression, severity, and neurologic
Publikováno v:
Blood. 82(4)
Intravenous enzyme replacement therapy (Alglucerase; Ceredase; Genzyme Corp, Boston, MA) is an effective and safe treatment for patients with type 1 Gaucher disease. In an attempt to reduce its high cost, a "low-dose high-frequency" protocol (30 U/kg
Publikováno v:
The Netherlands journal of medicine. 37(1-2)
We report three cases of thrombocytopenic purpura associated with HIV-1 infection. The clinical picture is indistinguishable from classic autoimmune thrombocytopenic purpura (AITP). All three patients initially responded to treatment with high dose m