Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations

Authors: Guillouet, Charlotte ¹, Agostini, Valeria ¹, Baujat, Geneviève ², Cocciadiferro, Dario ³, Pippucci, Tommaso ⁴, Lesieur-Sebellin, Marion ¹, Georget, Mathieu ¹, Schatz, Ulrich ^{5, 35}, Fauth, Christine ⁵, Louie, Raymond J. ⁶, Rogers, Curtis ⁶, Davis, Jessica M. ⁶, Konstantopoulou, Vassiliki ⁷, Mayr, Johannes A. ⁸, Bouman, Arjan ⁹, Wilke, Martina ⁹, VanNoy, Grace E. ¹⁰, England, Eleina M. ¹⁰, Park, Kristen L. ¹¹, Brown, Kathleen ¹², Saenz, Margarita ¹², Novelli, Antonio ³, Digilio, Maria Cristina ¹³, Mastromoro, Gioia ¹⁴, Rongioletti, Mauro Ciro Antonio ¹⁴, Piacentini, Gerardo ¹⁵, Kaiyrzhanov, Rauan ^{16, 17}, Guliyeva, Sughra ¹⁸, Hasanova, Lala ¹⁹, Shears, Deborah ²⁰, Bhatnagar, Ishita ²⁰, Stals, Karen ²¹, Klaas, Oliver ²², Horvath, Judit ²², Bouvagnet, Patrice ^{38, 39}, Witmer, P. Dane ²³, MacCarrick, Gretchen ²³, Cisarova, Katarina ³⁶, Good, Jean-Marc ²⁴, Gorokhova, Svetlana ^{25, 26}, Boute, Odile ²⁷, Smol, Thomas ²⁷, Bruel, Ange-Line ^{28, 29}, Patat, Olivier ³⁰, Broadbent, Julia R. ³¹, Tan, Tiong Y. ^{31, 32, 33}, Tan, Natalie B. ³³, Lyonnet, Stanislas ^{1, 2}, Busa, Tiffany ²⁶, Graziano, Claudio ³⁴, Amiel, Jeanne ^{1, 2}, Gordon, Christopher T. ^{1, ∗}

Source: In The American Journal of Human Genetics 3 April 2025 112(4):829-845

Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria

Authors: Beghini, Marianna, Pichler, Maximilian, Tinnefeld, Fiona Carolina, Metz, Matthäus, Möslinger, Dorothea, Konstantopoulou, Vassiliki, Spenger, Johannes, Kautzky-Willer, Alexandra, Frommlet, Florian, Scherer, Thomas, Hufgard-Leitner, Miriam

Source: In Molecular Genetics and Metabolism Reports June 2024 39

Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study

Authors: Guffon, Nathalie, Konstantopoulou, Vassiliki, Hennermann, Julia B., Muschol, Nicole, Bruno, Irene, Tummolo, Albina, Ceravolo, Ferdinando, Zardi, Giulia, Ballabeni, Andrea, Lund, Allan

Source: Journal of inherited metabolic disease. 46(4):705-719

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100189973360.0x000001&indx=1&recIds=ETOCvdc_100189973360.0x000001

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Authors: Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel, Howard, Caoimhe, Hughes, Joanne, Konstantopoulou, Vassiliki, Kose, Melis, Kerr, Marina, Khan, Aneal, Lenz, Dominic, McFarland, Robert, Margolis, Merav Gil, Morrison, Kevin, Müller, Thomas, Murayama, Kei, Nicastro, Emanuele, Pennisi, Alessandra, Peters, Heidi, Piekutowska-Abramczuk, Dorota, Rötig, Agnès, Santer, René, Scaglia, Fernando, Schiff, Manuel, Shagrani, Mohmmad, Sharrard, Mark, Soler-Alfonso, Claudia, Staufner, Christian, Storey, Imogen, Stormon, Michael, Taylor, Robert W., Thorburn, David R., Teles, Elisa Leao, Wang, Jian-She, Weghuber, Daniel, Wortmann, Saskia

Source: In Genetics in Medicine June 2023 25(6)

100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021

Authors: Ramoser, Gabriele, Caferri, Federica, Radlinger, Bernhard, Brunner‐Krainz, Michaela, Herbst, Sybille, Huemer, Martina, Hufgard‐Leitner, Miriam, Kircher, Susanne G., Konstantopoulou, Vassiliki, Löscher, Wolfgang, Möslinger, Dorothea, Plecko, Barbara, Spenger, Johannes, Stulnig, Thomas, Sunder‐Plassmann, Gere, Wortmann, Saskia, Scholl‐Bürgi, Sabine, Karall, Daniela

Source: Journal of inherited metabolic disease. 45(2):144-156

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100161081371.0x000001&indx=1&recIds=ETOCvdc_100161081371.0x000001

Project “Backtoclinic I”: An overview on the state of care of adult PKU patients in Austria

Authors: Beghini, Marianna, Resch, Felix J., Möslinger, Dorothea, Konstantopoulou, Vassiliki, Karall, Daniela, Scholl-Bürgi, Sabine, Brunner-Krainz, Michaela, Plecko, Barbara, Spenger, Johannes, Kautzky-Willer, Alexandra, Scherer, Thomas, Hufgard-Leitner, Miriam

Source: In Molecular Genetics and Metabolism July 2021 133(3):257-260

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Authors: Staufner, Christian, Peters, Bianca, Wagner, Matias, Alameer, Seham, Barić, Ivo, Broué, Pierre, Bulut, Derya, Church, Joseph A., Crushell, Ellen, Dalgıç, Buket, Das, Anibh M., Dick, Anke, Dikow, Nicola, Dionisi-Vici, Carlo, Distelmaier, Felix, Bozbulut, Neslihan Ekşi, Feillet, François, Gonzales, Emmanuel, Hadzic, Nedim, Hauck, Fabian, Hegarty, Robert, Hempel, Maja, Herget, Theresia, Klein, Christoph, Konstantopoulou, Vassiliki, Kopajtich, Robert, Kuster, Alice, Laass, Martin W., Lainka, Elke, Larson-Nath, Catherine, Leibner, Alexander, Lurz, Eberhard, Mayr, Johannes A., McKiernan, Patrick, Mention, Karine, Moog, Ute, Mungan, Neslihan Onenli, Riedhammer, Korbinian M., Santer, René, Palafoll, Irene Valenzuela, Vockley, Jerry, Westphal, Dominik S., Wiedemann, Arnaud, Wortmann, Saskia B., Diwan, Gaurav D., Russell, Robert B., Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Lenz, Dominic ^*

Source: In Genetics in Medicine March 2020 22(3):610-621

Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations

Authors: Boogert, Marjolein A.W., Crunelle, Cleo L., Ali, Lubna, Larsen, Lars E., Kuil, Sacha D., Levels, Johannes H.M., Schimmel, Alinda W.M., Konstantopoulou, Vassiliki, Guerin, Maryse, Kuivenhoven, Jan Albert, Dallinga‐Thie, Geesje M., Stroes, Erik S.G., Lefeber, Dirk J., Holleboom, Adriaan G.

Source: Journal of inherited metabolic disease. 43(3):611-617

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100116117206.0x000001&indx=1&recIds=ETOCvdc_100116117206.0x000001

The TGF‐b/SOX4 axis and ROS‐driven autophagy co‐mediate CD39 expression in regulatory T‐cells

Authors: Gerner, Marlene C., Ziegler, Liesa S., Schmidt, Ralf L. J., Krenn, Martin, Zimprich, Fritz, Uyanik‐Ünal, Keziban, Konstantopoulou, Vassiliki, Derdak, Sophia, Del Favero, Giorgia, Schwarzinger, Ilse, Boztug, Kaan, Schmetterer, Klaus G.

Source: FASEB journal. 34(6):8367-8384

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107522012.0x000001&indx=1&recIds=ETOCvdc_100107522012.0x000001

Newborn screening for homocystinurias: Recent recommendations versus current practice

Authors: Keller, Rebecca, Chrastina, Petr, Pavlíková, Markéta, Gouveia, Sofía, Ribes, Antonia, Kölker, Stefan, Blom, Henk J., Baumgartner, Matthias R., Bártl, Josef, Dionisi‐Vici, Carlo, Gleich, Florian, Morris, Andrew A., Kožich, Viktor, Huemer, Martina, Barić, Ivo, Ben‐Omran, Tawfeq, Blasco‐Alonso, Javier, Bueno Delgado, Maria A., Carducci, Claudia, Cassanello, Michela, Cerone, Roberto, Couce, Maria Luz, Crushell, Ellen, Delgado Pecellin, Carmen, Dulin, Elena, Espada, Mercedes, Ferino, Giulio, Fingerhut, Ralph, Garcia Jimenez, Immaculada, Gonzalez Gallego, Immaculada, González‐Irazabal, Yolanda, Gramer, Gwendolyn, Juan Fita, Maria Jesus, Karg, Eszter, Klein, Jeanette, Konstantopoulou, Vassiliki, la Marca, Giancarlo, Leão Teles, Elisa, Leuzzi, Vincenzo, Lilliu, Franco, Lopez, Rosa Maria, Lund, Allan M., Mayne, Philip, Meavilla, Silvia, Moat, Stuart J., Okun, Jürgen G., Pasquini, Elisabeta, Pedron‐Giner, Consuélo Carmen, Racz, Gabor Zoltan, Ruiz Gomez, Maria Angeles, Vilarinho, Laura, Yahyaoui, Raquel, Zerjav Tansek, Moja, Zetterström, Rolf H., Zeyda, Maximilian

Source: Journal of inherited metabolic disease. 42(1):128-139

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087697002.0x000001&indx=1&recIds=ETOCvdc_100087697002.0x000001

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Authors: Diets, Illja J., van der Donk, Roos, Baltrunaite, Kristina, Waanders, Esmé, Reijnders, Margot R.F., Dingemans, Alexander J.M., Pfundt, Rolph, Vulto-van Silfhout, Anneke T., Wiel, Laurens, Gilissen, Christian, Thevenon, Julien, Perrin, Laurence, Afenjar, Alexandra, Nava, Caroline, Keren, Boris, Bartz, Sarah, Peri, Bethany, Beunders, Gea, Verbeek, Nienke, van Gassen, Koen, Thiffault, Isabelle, Cadieux-Dion, Maxime, Huerta-Saenz, Lina, Wagner, Matias, Konstantopoulou, Vassiliki, Vodopiutz, Julia, Griese, Matthias, Boel, Annekatrien, Callewaert, Bert, Brunner, Han G., Kleefstra, Tjitske, Hoogerbrugge, Nicoline, de Vries, Bert B.A., Hwa, Vivian, Dauber, Andrew, Hehir-Kwa, Jayne Y., Kuiper, Roland P., Jongmans, Marjolijn C.J.

Source: American journal of human genetics. 104(4):758-766

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087578356.0x000001&indx=1&recIds=ETOCvdc_100087578356.0x000001

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Authors: Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A., Seifert, Burkhardt, Froese, D. Sean, Baumgartner, Matthias R., Dionisi‐Vici, Carlo, Martin, Carlos Alcalde, Baethmann, Martina, Ballhausen, Diana, Blasco‐Alonso, Javier, Boy, Nikolas, Bueno, Maria, Burgos Peláez, Rosa, Cerone, Roberto, Chabrol, Brigitte, Chapman, Kimberly A., Couce, Maria Luz, Crushell, Ellen, Dalmau Serra, Jaime, Diogo, Luisa, Ficicioglu, Can, García Jimenez, Maria Concepcion, García Silva, Maria Teresa, Gaspar, Ana Maria, Gautschi, Matthias, González‐Lamuño, Domingo, Gouveia, Sofia, Grünewald, Stephanie, Hendriksz, Chris, Janssen, Mirian C. H., Jesina, Pavel, Koch, Johannes, Konstantopoulou, Vassiliki, Lavigne, Christian, Lund, Allan M., Martins, Esmeralda G., Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Mundy, Helen, Murphy, Elaine, Paquay, Stephanie, Pedrón‐Giner, Consuelo, Ruiz Gómez, Maria Angeles, Santra, Saikat, Schiff, Manuel, Schwartz, Ida Vanessa, Scholl‐Bürgi, Sabine, Servais, Aude, Skouma, Anastasia, Tran, Christel, Vives Piñera, Inmaculada, Walter, John, Weisfeld‐Adams, James

Source: Journal of inherited metabolic disease. 42(2):333-352

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083720108.0x000001&indx=1&recIds=ETOCvdc_100083720108.0x000001

Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency

Authors: Rommer, Paulus S., Zschocke, Johannes, Fowler, Brian, Födinger, Manuela, Konstantopoulou, Vassiliki, Möslinger, Dorothea, Stögmann, Elisabeth, Suess, Erhard, Baumgartner, Matthias, Auff, Eduard, Sunder-Plassmann, Gere

Source: In Journal of the Neurological Sciences 15 December 2017 383:123-127

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency

Authors: Grünert, Sarah Catharina, Schmitt, Robert Niklas, Schlatter, Sonja Marina, Gemperle-Britschgi, Corinne, Balcı, Mehmet Cihan, Berg, Volker, Çoker, Mahmut, Das, Anibh M., Demirkol, Mübeccel, Derks, Terry G.J., Gökçay, Gülden, Uçar, Sema Kalkan, Konstantopoulou, Vassiliki, Christoph Korenke, G., Lotz-Havla, Amelie Sophia, Schlune, Andrea, Staufner, Christian, Tran, Christel, Visser, Gepke, Schwab, Karl Otfried, Fukao, Toshiyuki, Sass, Jörn Oliver

Source: In Molecular Genetics and Metabolism September 2017 122(1-2):67-75

The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.

Authors: Knöpfli, Stella, Goeschl, Bernadette, Zeyda, Maximilian, Baghdasaryan, Anna, Baumgartner-Kaut, Margot, Baumgartner, Matthias R., Herle, Marion, Margreitter, Julian, Poms, Martin, Wortmann, Saskia B., Konstantopoulou, Vassiliki, Huemer, Martina

Source: International Journal of Neonatal Screening (IJNS); Jun2024, Vol. 10 Issue 2, p40, 12p

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Authors: Lotz-Havla, Amelie, Röschinger, Wulf, Schiergens, Katharina, Singer, Katharina, Karall, Daniela, Konstantopoulou, Vassiliki, Wortmann, Saskia, Maier, Esther

Source: Orphanet journal of rare diseases. 13(1):1-8

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171467502.0x000001&indx=1&recIds=ETOCvdc_100171467502.0x000001

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Authors: Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger

Source: In The American Journal of Human Genetics 2 June 2016 98(6):1130-1145

Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders

Authors: Zöggeler, Thomas, Stock, Katharina, Jörg-Streller, Monika, Spenger, Johannes, Konstantopoulou, Vassiliki, Hufgard-Leitner, Miriam, Scholl-Bürgi, Sabine, Karall, Daniela

Source: Orphanet journal of rare diseases. 16(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191440554.0x000001&indx=1&recIds=ETOCvdc_100191440554.0x000001

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Authors: Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara, Longo, Nicola, Korenke, G. Christoph, Mercimek-Mahmutoglu, Saadet, Marquart, Iris, Barshop, Bruce, Grolik, Christiane, Schlune, Andrea, Angle, Brad, Araújo, Helena Caldeira, Coskun, Turgay, Diogo, Luisa, Geraghty, Michael, Haliloglu, Goknur, Konstantopoulou, Vassiliki, Leuzzi, Vincenzo, Levtova, Alina, MacKenzie, Jennifer, Maranda, Bruno, Mhanni, Aizeddin A., Mitchell, Grant, Morris, Andrew, Newlove, Theresa, Renaud, Deborah, Scaglia, Fernando, Valayannopoulos, Vassili, van Spronsen, Francjan J., Verbruggen, Krijn T., Yuskiv, Nataliya, Nyhan, William, Schulze, Andreas

Source: In Molecular Genetics and Metabolism January 2014 111(1):16-25

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.

Authors: Achleitner, Melanie T., Jans, Judith J. M., Ebner, Laura, Spenger, Johannes, Konstantopoulou, Vassiliki, Feichtinger, René G., Brugger, Karin, Mayr, Doris, Wevers, Ron A., Thiel, Christian, Wortmann, Saskia B., Mayr, Johannes A.

Source: Metabolites (2218-1989); Nov2023, Vol. 13 Issue 11, p1141, 14p

Subject Terms: NEWBORN screening, GALACTOSE, NEONATAL jaundice, WESTERN immunoblotting, MISSENSE mutation, GLUCOSE-6-phosphate dehydrogenase