Search Results - "Boemer, F."

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 by Loeber, J Gerard, Platis, Dimitris, Zetterström, Rolf H, Almashanu, Shlomo, Boemer, François, Bonham, James R, Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O'Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D, Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, Schielen, Peter C J I

“…Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then…”
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Innovative PCR without DNA extraction for African sickle cell disease diagnosis by Detemmerman, L, Olivier, S, Bours, V, Boemer, F

“…Hemoglobin (Hb) disorders consist of thalassemia and Hb structural variants, of which the major forms are associated with severe anemia and/or vascular…”
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A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases by Boemer, F., Fasquelle, C., d’Otreppe, S., Josse, C., Dideberg, V., Segers, K., Guissard, V., Capraro, V., Debray, FG, Bours, V.

“…The range of applications performed on dried blood spots (DBS) widely broadened during the past decades to now include next-generation sequencing (NGS)…”
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Tryptophan catabolism differentiates breast cancer patients from healthy controls but does not predict outcome by Onesti, C.E., Boemer, F., Josse, C., Leduc, S., Poulet, C., Bours, V., Jerusalem, G.

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Folinic acid treatment for schizophrenia associated with folate receptor autoantibodies by Ramaekers, V.T., Thöny, B., Sequeira, J.M., Ansseau, M., Philippe, P., Boemer, F., Bours, V., Quadros, E.V.

“…Auto-antibodies against folate receptor alpha (FRα) at the choroid plexus that block N5-methyltetrahydrofolate (MTHF) transfer to the brain were identified in…”
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Samaras and seedlings of Acer pseudoplatanus are potential sources of hypoglycin A intoxication in atypical myopathy without necessarily inducing clinical signs by Baise, E., Habyarimana, J. A., Amory, H., Boemer, F., Douny, C., Gustin, P., Marcillaud-Pitel, C., Patarin, F., Weber, M., Votion, D.-M.

“…Summary Reasons for performing study Ingestion of sycamore seeds (Acer pseudoplatanus) is the likely source of hypoglycin A in atypical myopathy (AM) but…”
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Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria by Stéphenne, X, Debray, F G, Smets, F, Jazouli, N, Sana, G, Tondreau, T, Menten, R, Goffette, P, Boemer, F, Schoos, R, Gersting, S W, Najimi, M, Muntau, A C, Goyens, P, Sokal, E M

“…Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is…”
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Identification of methylenecyclopropyl acetic acid in serum of European horses with atypical myopathy by Votion, D.-M., van Galen, G., Sweetman, L., Boemer, F., de Tullio, P., Dopagne, C., Lefère, L., Mouithys-Mickalad, A., Patarin, F., Rouxhet, S., van Loon, G., Serteyn, D., Sponseller, B. T., Valberg, S. J.

“…Summary Reasons for performing study It is hypothesised that European atypical myopathy (AM) has a similar basis as seasonal pasture myopathy in North America,…”
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Diagnostic pitfall in antenatal manifestations of CPT II deficiency by Boemer, F., Deberg, M., Schoos, R., Caberg, J.-H., Gaillez, S., Dugauquier, C., Delbecque, K., François, A., Maton, P., Demonceau, N., Senterre, G., Ferdinandusse, S., Debray, F.-G.

“…Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inborn error of mitochondrial fatty acid metabolism associated with various phenotypes. Whereas…”
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Detection of hypoglycin A in the seeds of sycamore (Acer pseudoplatanus) and box elder (A. negundo) in New Zealand; the toxin associated with cases of equine atypical myopathy by McKenzie, RK, Hill, FI, Habyarimana, JA, Boemer, F, Votion, DM

“…CASE HISTORY AND CLINICAL FINDINGS: During April and May 2014 four horses aged between 5 months and 9 years, located in the Canterbury, Marlborough and…”
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P011 Cystic fibrosis newborn screening a Belgian experience by Boboli, H., Boemer, F.

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Images in hepatology. Aneurysm of the trunk of the portal vein by Geubel, A P, Maisse, F, Boemer, F

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O10 Universal genomic newborn screening for early, treatable, and severe conditions- including 33 genes of NMD: Baby Detect by Dangouloff, T., Hovhannesyan, K., Piazzon, F., Mashhadizadeh, D., Helou, L., Palmeira, L., Boemer, F., Servais, L.

“…Newborn screening (NBS) has traditionally been performed using biochemical and metabolic techniques that have greatly improved the management of many serious…”
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SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES by Dangouloff, T., Hiligsmann, M., Caberg, J., Boemer, F., Servais, L.

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SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES: P.97Development of a decision-analytic model for the economic evaluation of newborn screening for spinal muscular atrophy by Dangouloff, T., Hiligsmann, M., Caberg, J., Boemer, F., Servais, L.

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55PTryptophan catabolism differentiates breast cancer patients from healthy controls but does not predict outcome by Onesti, C E, Boemer, F, Josse, C, Leduc, S, Poulet, C, Bours, V, Jerusalem, G

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P.225Reducing the diagnosis time of neonatal screening by optimizing the screening process: the southern Belgian experience by Dangouloff, T., Boemer, F., Caberg, J., Di Fiore, S., Beckers, P., Marie, S., Marcelis, L., Servais, L.

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WS16-4 Newborn screening of cystic fibrosis: analytical and clinical assessment of a new commercial kit for PAP quantification by Boulanger, M., Coenen, R., Boemer, F., Deberg, M., Debois, D., Bosseloir, A.

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Neonatal screening for cystic fibrosis : towards a national implementation in Belgium in 2019 by Boboli, H, Boemer, F, Mastouri, M, Seghaye, M C

“…Cystic fibrosis has in Belgium a prevalence of 1/2.850 births, with a median age at diagnosis of 7 months according to the latest data from the Belgian…”
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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey by van Wegberg, Annemiek M.J., Trefz, Friedrich, Gizewska, Maria, Ahmed, Sibtain, Chabraoui, Layachi, van Spronsen, Francjan J., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Cozens, A., Das, A.M., de las Heras Montero, J., Debray, F.G., Dercksen, M., Descartes, M., Eminoglu, F.T., Enns, G.M., Ford, S., Freisinger, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Hoi-Yee Wu, T., Jamuar, S.S., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Mitchell, J., Mochel, F., Morris, A., Moura de Souza, C.F., Munoz, T., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Pitt, J., Poon, G., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sander, J., Schwartz, I.V.D., Sharma, R., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Wagenmakers, M.A.E.M., Weinhold, N., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A.

“…Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In…”
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