Search Results - "Bootsma, Albert H."

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype by Vaz, Frédéric M., Paulusma, Coen C., Huidekoper, Hidde, de Ru, Minke, Lim, Cynthia, Koster, Janet, Ho‐Mok, Kam, Bootsma, Albert H., Groen, Albert K., Schaap, Frank G., Oude Elferink, Ronald P. J., Waterham, Hans R., Wanders, Ronald J.A.

“…The enterohepatic circulation of bile salts is an important physiological route to recycle bile salts and ensure intestinal absorption of dietary lipids. The…”
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A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios[S] by Vaz, Frédéric M., Bootsma, Albert H., Kulik, Willem, Verrips, Aad, Wevers, Ron A., Schielen, Peter C., DeBarber, Andrea E., Huidekoper, Hidde H.

“…Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which symptoms can be prevented if treatment…”
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Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse by van Vlies, Naomi, Tian, Liqun, Overmars, Henk, Bootsma, Albert H, Kulik, Willem, Wanders, Ronald J A, Wood, Philip A, Vaz, Frédéric M

“…In the present paper, we describe a novel method which enables the analysis of tissue acylcarnitines and carnitine biosynthesis intermediates in the same…”
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Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots by Hong, Xinying, Daiker, Jessica, Sadilek, Martin, DeBarber, Andrea E., Chiang, John, Duan, Jie, Bootsma, Albert H., Huidekoper, Hidde H., Vaz, Frédéric M., Gelb, Michael H.

“…Cerebrotendinous xanthomatosis (CTX) is a treatable hereditary disorder caused by the deficiency of sterol 27-hydroxylase, which is encoded by the CYP27A1…”
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Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns by Vaz, Frédéric M., Jamal, Youssra, Barto, Rob, Gelb, Michael H., DeBarber, Andrea E., Wevers, Ron A., Nelen, Marcel R., Verrips, Aad, Bootsma, Albert H., Bouva, Marelle J., Kleise, Nick, van der Zee, Walter, He, Tao, Salomons, Gajja S., Huidekoper, Hidde H.

“…•CTX newborn screening is possible using only metabolite ratios.•Screening of 20,076 deidentified newborn blood spots showed no CTX screen positives.•CTX…”
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Rapid Screening of High-Risk Patients for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry of Liquid Urine or Urine-soaked Filter Paper Strips by Ito, Tetsuya, van Kuilenburg, Andre B.P, Bootsma, Albert H, Haasnoot, Anja J, van Cruchten, Arno, Wada, Yoshiro, van Gennip, Albert H

“…A rapid and specific screening method for patients at risk of inherited disorders of purine and pyrimidine metabolism is desirable because symptoms are varied…”
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Principles and practice of lipidomics by Vaz, Frédéric M., Pras-Raves, Mia, Bootsma, Albert H., van Kampen, Antoine H. C.

“…The technical advances in mass spectrometry, particularly the development of (ultra)-high-resolution/mass accuracy measurement capabilities in combination with…”
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Mrp2-deficiency in the rat impairs biliary and intestinal excretion and influences metabolism and disposition of the food-derived carcinogen 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) by Dietrich, Christoph G., de Waart, D.Rudi, Ottenhoff, Roel, Bootsma, Albert H., van Gennip, Albert H., Elferink, Ronald P.J.Oude

“…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…”
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Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase by Silva, Margarida F B, Ruiter, Jos P N, Overmars, Henk, Bootsma, Albert H, van Gennip, Albert H, Jakobs, Cornelis, Duran, Marinus, Tavares de Almeida, Isabel, Wanders, Ronald J A

“…The beta-oxidation of valproic acid (VPA; 2-n-propylpentanoic acid) was investigated in vitro in intact rat liver mitochondria incubated with (3)H-labelled…”
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Defects in Pyrimidine Degradation Identified by HPLC-Electrospray Tandem Mass Spectrometry of Urine Specimens or Urine-soaked Filter Paper Strips by van Lenthe, Henk, van Kuilenburg, Andre B.P, Ito, Tetsuya, Bootsma, Albert H, van Cruchten, Arno, Wada, Yoshiro, van Gennip, Albert H

“…Urinary concentrations of thymine, uracil, and their degradation products are useful indicators of deficiencies of enzymes of the pyrimidine degradation…”
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Complete β-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase by SILVA, Margarida F. B., RUITER, Jos P. N., OVERMARS, Henk, BOOTSMA, Albert H., van GENNIP, Albert H., JAKOBS, Cornelis, DURAN, Marinus, TAVARES de ALMEIDA, Isabel, WANDERS, Ronald J. A.

“…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…”
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HPLC/ESI tandem-MS of liquid urine or urine soaked filter-paper strips for the detection of thymine-uraciluria and dihydropyrimidinuria by Van Gennip, A H, Van Lenthe, H, Ito, T, Bootsma, A H, Van Cruchten, A C, Wada, Y, Van Kuilenburg, A B

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