Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Albert H, Bootsma"'
Autor:
Frédéric M. Vaz, Youssra Jamal, Rob Barto, Michael H. Gelb, Andrea E. DeBarber, Ron A. Wevers, Marcel R. Nelen, Aad Verrips, Albert H. Bootsma, Marelle J. Bouva, Nick Kleise, Walter van der Zee, Tao He, Gajja S. Salomons, Hidde H. Huidekoper
Publikováno v:
Vaz, F M, Jamal, Y, Barto, R, Gelb, M H, DeBarber, A E, Wevers, R A, Nelen, M R, Verrips, A, Bootsma, A H, Bouva, M J, Kleise, N, van der Zee, W, He, T, Salomons, G S & Huidekoper, H H 2023, ' Newborn screening for Cerebrotendinous Xanthomatosis : A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns ', Clinica Chimica Acta, vol. 539, pp. 170-174 . https://doi.org/10.1016/j.cca.2022.12.011
Clinica chimica acta; international journal of clinical chemistry, 539, 170-174. Elsevier
Clinica Chimica Acta, 539, 170-174. Elsevier
Clinica chimica acta; international journal of clinical chemistry, 539, 170-174. Elsevier
Clinica Chimica Acta, 539, 170-174. Elsevier
Background and aims: Cerebrotendinous Xanthomatosis (CTX) is a treatable disorder of bile acid synthesis caused by deficiency of 27-sterol hydroxylase -encoded by CYP27A1- leading to gastrointestinal and progressive neuropsychiatric symptoms. Biochem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4fca79357ee71286b59ed2d208de6f1
http://www.scopus.com/inward/record.url?scp=85144254359&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85144254359&partnerID=8YFLogxK
Autor:
Frédéric M. Vaz, Albert H. Bootsma, Willem Kulik, Aad Verrips, Ron A. Wevers, Peter C. Schielen, Andrea E. DeBarber, Hidde H. Huidekoper
Publikováno v:
Journal of Lipid Research, Vol 58, Iss 5, Pp 1002-1007 (2017)
Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which symptoms can be prevented if treatment with chenodeoxycholic acid supplementation is initiated early in life, making CTX an excel
Externí odkaz:
https://doaj.org/article/149f04e1e52c4d299760cb20acaf0e0e
Autor:
Jie Duan, Albert H. Bootsma, Jessica Daiker, Xinying Hong, Michael H. Gelb, Andrea E. DeBarber, Frédéric M. Vaz, John Y.L. Chiang, Hidde H. Huidekoper, Martin Sadilek
Publikováno v:
Genetics in Medicine, 22(10), 1606-1612. Lippincott Williams & Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, 22(10), 1606-1612. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, 22(10), 1606-1612. Lippincott Williams and Wilkins
Purpose: Cerebrotendinous xanthomatosis (CTX) is a treatable hereditary disorder caused by the deficiency of sterol 27-hydroxylase, which is encoded by the CYP27A1 gene. Different newborn screening biomarkers for CTX have been described, including 7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d088bf49258f001c89402830b5cb1dc0
https://hdl.handle.net/1765/127849
https://hdl.handle.net/1765/127849
Publikováno v:
Journal of inherited metabolic disease, 38(1), 41-52. Springer Netherlands
The technical advances in mass spectrometry, particularly the development of (ultra)-high-resolution/mass accuracy measurement capabilities in combination with refinement of soft ionization techniques, have increased the application and success of li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab5a677f2b153f1a2000b4169bd4e7f
https://doi.org/10.1007/s10545-014-9792-6
https://doi.org/10.1007/s10545-014-9792-6
Autor:
Hidde H. Huidekoper, Janet Koster, Albert H. Bootsma, Frédéric M. Vaz, Ronald J.A. Wanders, Hans R. Waterham, Coen C. Paulusma, Kam S. Ho-Mok, Frank G. Schaap, Cynthia Lim, Albert K. Groen, Minke de Ru, Ronald P.J. Oude Elferink
Publikováno v:
Hepatology, 61(1), 260-267. Wiley
Hepatology (Baltimore, Md.), 61(1), 260-267. John Wiley and Sons Ltd
Hepatology (Baltimore, Md.), 61(1), 260-267. John Wiley and Sons Ltd
The enterohepatic circulation of bile salts is an important physiological route to recycle bile salts and ensure intestinal absorption of dietary lipids. The Na+-taurocholate cotransporting polypeptide SLC10A1 (NTCP) plays a key role in this process
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76055b0bdc2e33185f43c9c91b562900
https://hdl.handle.net/11370/4a4eb5a7-b2d0-440e-ac29-49a1006c3858
https://hdl.handle.net/11370/4a4eb5a7-b2d0-440e-ac29-49a1006c3858
Autor:
Albert H. Bootsma, Andrea E. DeBarber, Hidde H. Huidekoper, Peter C. J. I. Schielen, Aad Verrips, Willem Kulik, Frédéric M. Vaz, Ron A. Wevers
Publikováno v:
Journal of Lipid Research, 58, 1002-1007
Journal of Lipid Research, 58, 5, pp. 1002-1007
Journal of Lipid Research, 58(5), 1002-1007. American Society for Biochemistry and Molecular Biology Inc.
Journal of Lipid Research, Vol 58, Iss 5, Pp 1002-1007 (2017)
Journal of lipid research, 58(5), 1002-1007. American Society for Biochemistry and Molecular Biology Inc.
Journal of Lipid Research, 58, 5, pp. 1002-1007
Journal of Lipid Research, 58(5), 1002-1007. American Society for Biochemistry and Molecular Biology Inc.
Journal of Lipid Research, Vol 58, Iss 5, Pp 1002-1007 (2017)
Journal of lipid research, 58(5), 1002-1007. American Society for Biochemistry and Molecular Biology Inc.
Contains fulltext : 174067.pdf (Publisher’s version ) (Open Access) Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which symptoms can be prevented if treatment with chenodeoxycholi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d98fda6ad65248bd8cdc39337119cc2b
http://hdl.handle.net/2066/174067
http://hdl.handle.net/2066/174067
Autor:
Albert H. Bootsma, Frédéric M. Vaz, Willem Kulik, Liqun Tian, Ronald J.A. Wanders, H. Overmars, Philip A. Wood, Naomi van Vlies
Publikováno v:
Biochemical journal, 387(Part 1), 185-193. Portland Press Ltd.
In the present paper, we describe a novel method which enables the analysis of tissue acylcarnitines and carnitine biosynthesis intermediates in the same sample. This method was used to investigate the carnitine and fatty acid metabolism in wild-type
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65f15c7793a69ea6ba7f2568967fe4d9
https://doi.org/10.1042/bj20041489
https://doi.org/10.1042/bj20041489
Autor:
Margarida F. B. SILVA, Jos P. N. RUITER, Henk OVERMARS, Albert H. BOOTSMA, Albert H. van GENNIP, Cornelis JAKOBS, Marinus DURAN, Isabel TAVARES de ALMEIDA, Ronald J. A. WANDERS
Publikováno v:
Biochemical Journal. 362:755-760
The β-oxidation of valproic acid (VPA; 2-n-propylpentanoic acid) was investigated in vitro in intact rat liver mitochondria incubated with 3H-labelled VPA. The metabolism of [4,5-3H2]VPA and [2-3H]VPA was studied by analysing the different acyl-CoA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bdeb9fc87be3cab814186f3f6cd67a73
https://doi.org/10.1042/bj3620755
https://doi.org/10.1042/bj3620755
Autor:
Marcel B. M. Teunissen, Albert H. Bootsma, H. Overmars, Arthur Kammeyer, Jan D. Bos, Teunis A. Eggelte
Publikováno v:
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, 1526(3), 277-285. Elsevier
cis-Urocanic acid (cis-UCA), formed from trans-urocanic acid (trans-UCA) by photoisomerization, has been shown to mimic suppressive effects of UV on the immune system. It is our hypothesis that UCA oxidation products in the skin play a role in the pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::016a2b325f27e3a957504c0ef924b37a
https://doi.org/10.1016/s0304-4165(01)00139-8
https://doi.org/10.1016/s0304-4165(01)00139-8
Autor:
Albert H. Bootsma, Ronald P.J. Oude Elferink, D. Rudi de Waart, Albert H. van Gennip, Christoph G. Dietrich, Roel Ottenhoff
Publikováno v:
Carcinogenesis. 22:805-811
While metabolism of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP), the most abundant food-derived heterocyclic amine and carcinogen, has been studied extensively in several species, transport of this compound and its metabolites has not been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::803b0515a824f8efc69623c1d5e4cb33
https://doi.org/10.1093/carcin/22.5.805
https://doi.org/10.1093/carcin/22.5.805