Formulas for Calculating Calcium Values Underestimate Hypocalcemia in Hemodialysis Patients

Autor: Frans A. L. Van Der Horst, Sebastiaan J Huisman, Ference J. Loupatty, Thijs C van Holten

Publikováno v: Clinical chemistry. 62(11)

To the Editor: Hemodialysis patients are exposed to high amounts of phosphate and citrate, causing hypocalcaemia and hyperparathyroidism (1). These perturbations have a substantial role in extravascular calcifications causing cardiovascular disease a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b05f3a8f08f1c3a6da31633de2ca636c
https://pubmed.ncbi.nlm.nih.gov/27630155

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria

Autor: Rob Ofman, Matthias R. Baumgartner, Seiji Yamaguchi, Annemarie van der Steen, Jos P.N. Ruiter, Ference J. Loupatty, Diana Ballhausen, Lodewijk IJlst, Ronald J.A. Wanders, Marinus Duran

Publikováno v: Molecular Genetics and Metabolism, 87(3), 243-248. Academic Press
Molecular genetics and metabolism, 87(3), 243-248. Academic Press Inc.

3-Hydroxyisobutyric aciduria is a rare entity and affected individuals display a range of clinical manifestations including dysmorphic features and neurodevelopmental problems in the majority of patients. Here, we present two novel patients with 3-hy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39416e0ae219e75b83824e46d31c6209
https://doi.org/10.1016/j.ymgme.2005.09.019

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism

Autor: Ronald J.A. Wanders, Berry Kremer, Ference J. Loupatty, Udo F. H. Engelke, Marinette van der Graaf, Erik van den Bergh, Eva Morava, Leo A. J. Kluijtmans, Sandra Loss, Detlef Moskau, Ron A. Wevers

Publikováno v: NMR in Biomedicine, 19, 2, pp. 271-8
NMR in Biomedicine, 19, 271-8

Contains fulltext : 50036.pdf (Publisher’s version ) (Closed access) A diagnosis of 3-methylglutaconic aciduria type I (OMIM: 250950) based on elevated urinary excretion of 3-methylglutaconic acid (3MGA), 3-methylglutaric acid (3MG) and 3-hydroxyis

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https://doi.org/10.1002/nbm.1018

3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH

Autor: Ference J. Loupatty, Lodewijk IJlst, Jos P.N. Ruiter, Marinus Duran, Willy Lehnert, Ronald J.A. Wanders

Publikováno v: American journal of human genetics, 71(6), 1463-1466. Cell Press
American Journal of Human Genetics, 71(6), 1463-1466. Cell Press

3-Methylglutaconic aciduria type I is an autosomal recessive disorder clinically characterized by various symptoms ranging from delayed speech development to severe neurological handicap. This disorder is caused by a deficiency of 3-methylglutaconyl-

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Multicenter comparison study of current methods to measure 25-hydroxyvitamin D in serum

Autor: Ference J. Loupatty, Lianne S.M. Boesten, Annemieke C. Heijboer, Johannes M.W. van den Ouweland, Corinne C. Bekker, Marcel J.W. Janssen, Madelon M. Buijs, Jos P.M. Wielders, Frans A. L. Van Der Horst

Publikováno v: Steroids, 77(13), 1366-1372. Elsevier Inc.
Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde, 37(3), 223-226. Nederlandse Vereniging voor Klinische Chemie
Janssen, M J W, Wielders, J P M, Bekker, C C, Boesten, L S M, Buijs, M M, Heijboer, A C, van der Horst, F A L, Loupatty, F J & van den Ouweland, J M W 2012, ' Multicenter comparison study of current methods to measure 25-hydroxyvitamin D in serum ', Steroids, vol. 77, no. 13, pp. 1366-1372 . https://doi.org/10.1016/j.steroids.2012.07.013
Janssen, M J W, Wielders, J P M, Bekker, C C, Boesten, L S M, Buijs, M M, Heijboer, A C, Van Der Horst, F A L, Loupatty, F J & Van Den Ouweland, J M W 2012, ' Multicenter comparison study of current methods to measure 25-hydroxyvitamin D in serum ', Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde, vol. 37, no. 3, pp. 223-226 .
Scopus-Elsevier

Measurement of serum 25-hydroxyvitamin D [25(OH)D] is generally considered to be a reliable indicator of vitamin D status. High variability in 25(OH)D measurements due to utilized test and assay technologies, non-equimolar detection of 25(OH)D2 and 2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0ed5a6c6eb7c92fdfcc1c761fae3081
https://research.vumc.nl/en/publications/d07b4e54-2296-423c-a10e-130dfefbd47d