Search Results - "Loupatty, Ference J."

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway by Wanders, Ronald J. A., Duran, Marinus, Loupatty, Ference J.

“…Valine is one of the three branched-chain amino acids which undergoes oxidation within mitochondria. In this paper, we describe the current state of knowledge…”
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Multicenter comparison study of current methods to measure 25-hydroxyvitamin D in serum by Janssen, Marcel J.W., Wielders, Jos P.M., Bekker, Corinne C., Boesten, Lianne S.M., Buijs, Madelon M., Heijboer, Annemieke C., van der Horst, Frans A.L., Loupatty, Ference J., van den Ouweland, Johannes M.W.

“…► Ten methods to measure serum 25-hydroxyvitamin D were compared with ID–LC–MS/MS. ► Significant bias exists between ID–LC–MS/MS and many, but not all, other…”
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Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration by Loupatty, Ference J., Clayton, Peter T., Ruiter, Jos P.N., Ofman, Rob, IJlst, Lodewijk, Brown, Garry K., Thorburn, David R., Harris, Robert A., Duran, Marinus, DeSousa, Carlos, Krywawych, Steve, Heales, Simon J.R., Wanders, Ronald J.A.

“…Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the literature, and the molecular basis of this inborn error of…”
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Formulas for Calculating Calcium Values Underestimate Hypocalcemia in Hemodialysis Patients by van Holten, Thijs C, van der Horst, Frans A L, Huisman, Sebastiaan J, Loupatty, Ference J

“…The Kidney Disease: Improving Global Outcomes (KDIGO)1 work group developed a clinical practice guideline on mineral and bone disorders and have advised…”
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Can serum L-lactate, D-lactate, creatine kinase and I-FABP be used as diagnostic markers in critically ill patients suspected for bowel ischemia by van der Voort, Peter H J, Westra, Berit, Wester, Jos P J, Bosman, Rob J, van Stijn, Ilse, Haagen, Inez-Anne, Loupatty, Ference J, Rijkenberg, Saskia

“…The prognostic value of biochemical tests in critically ill patients with multiple organ failure and suspected bowel ischemia is unknown. In a prospective…”
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3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH by IJlst, Lodewijk, Loupatty, Ference J., Ruiter, Jos P.N., Duran, Marinus, Lehnert, Willy, Wanders, Ronald J.A.

“…3-Methylglutaconic aciduria type I is an autosomal recessive disorder clinically characterized by various symptoms ranging from delayed speech development to…”
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NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism by Engelke, Udo F. H., Kremer, Berry, Kluijtmans, Leo A. J., van der Graaf, Marinette, Morava, Eva, Loupatty, Ference J., Wanders, Ronald J. A., Moskau, Detlef, Loss, Sandra, van den Bergh, Erik, Wevers, Ron A.

“…A diagnosis of 3‐methylglutaconic aciduria type I (OMIM: 250950) based on elevated urinary excretion of 3‐methylglutaconic acid (3MGA), 3‐methylglutaric acid…”
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Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3‐methylglutaconic aciduria by Rosa, Gabriella Di, Deodato, Federica, Loupatty, Ference J., Rizzo, Cristiano, Carrozzo, Rosalba, Santorelli, Filippo M., Boenzi, Sara, D'Amico, Adele, Tozzi, Giulia, Bertini, Enrico, Maiorana, Andrea, Wanders, Ronald J. A., Dionisi‐Vici, Carlo

“…Summary 3‐Methylglutaconic aciduria is the biochemical marker of several inherited metabolic diseases. Four types of 3‐methylglutaconic aciduria can be…”
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Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria by Loupatty, Ference J., van der Steen, Annemarie, IJlst, Lodewijk, Ruiter, Jos P.N., Ofman, Rob, Baumgartner, Matthias R., Ballhausen, Diana, Yamaguchi, Seiji, Duran, Marinus, Wanders, Ronald J.A.

“…3-Hydroxyisobutyric aciduria is a rare entity and affected individuals display a range of clinical manifestations including dysmorphic features and…”
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Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I by LOUPATTY, Ference J, RUITER, Jos P. N, IJLST, Lodewijk, DURAN, Marinus, WANDERS, Ronald J. A

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