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

Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

Authors: Kožich, Viktor, Sokolová, Jitka, Morris, Andrew A. M., Pavlíková, Markéta, Gleich, Florian, Kölker, Stefan, Krijt, Jakub, Dionisi‐Vici, Carlo, Baumgartner, Matthias R., Blom, Henk J., Huemer, Martina, Aldámiz‐Echevarría, Luis, Arantes, Rodrigo Rezende, Arrieta, Francisco, Blasco‐Alonso, Javier, Brouwers, Martijn, Brunner‐Krainz, Michaela, Bueno, María, Peláez, Rosa Burgos, Cano, Aline, Couce, María‐Luz, Crushell, Ellen, Ficicioglu, Can, Forny, Patrick, García Jiménez, María Concepción, Gaspar, Ana, González‐Lamuño Leguina, Domingo, Chapman, Kimberly A., Chien, Yin‐Hsiu, Janssen, Mirian C.H., Ješina, Pavel, Lachmann, Robin, Lavigne, Christian, Lund, Allan M., Lüsebrink, Natalia, Maillot, Francois, Martins, Ana Maria, Olivas, Silvia Meavilla, Mention, Karine, Mochel, Fanny, Monavari, Ahmad, Moreira, Sónia, Moreno, Carolina Araujo, Muačević‐Katanec, Diana, Mundy, Helen, Murphy, Elaine, Olivieri, Giorgia, Paquay, Stéphanie, Pedrón‐Giner, Consuelo, Quintana, Luís Peña, Porras‐Hurtado, Gloria L., Fraile, Pilar Quijada, Redonnet‐Vernhet, Isabelle, Rennings, Alexander J.M., Pons, Mònica Ruiz, Santra, Saikat, Servais, Aude, Schiaffino, Maria Cristina, Schiff, Manuel, Schwahn, Bernd C., Schwartz, Ida V.D., Sremba, Leighann J., Stainforth, Collette, Stepien, Karolina M., Sykut‐Cegielska, Jolanta, Terry, Allyson, Tran, Christel, Miñana, Isidro Vitoria, Vives‐Piñera, Inmaculada, Williams, Monique, Zeman, Jiří, Zielonka, Matthias

Source: Journal of inherited metabolic disease. 44(3):677-692

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100120637134.0x000001&indx=1&recIds=ETOCvdc_100120637134.0x000001

The genotypic and phenotypic spectrum of MTO1 deficiency

Authors: O'Byrne, James J., Tarailo-Graovac, Maja, Ghani, Aisha, Champion, Michael, Deshpande, Charu, Dursun, Ali, Ozgul, Riza K., Freisinger, Peter, Garber, Ian, Haack, Tobias B., Horvath, Rita, Barić, Ivo, Husain, Ralf A., Kluijtmans, Leo A.J., Kotzaeridou, Urania, Morris, Andrew A., Ross, Colin J., Santra, Saikat, Smeitink, Jan, Tarnopolsky, Mark, Wortmann, Saskia B., Mayr, Johannes A., Brunner-Krainz, Michaela, Prokisch, Holger, Wasserman, Wyeth W., Wevers, Ron A., Engelke, Udo F., Rodenburg, Richard J., Ting, Teck Wah, McFarland, Robert, Taylor, Robert W., Salvarinova, Ramona, van Karnebeek, Clara D.M.

Source: In Molecular Genetics and Metabolism January 2018 123(1):28-42

Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series

Authors: Waich, Stephanie, Roscher, Anne, Brunner-Krainz, Michaela, Cortina, Gerard, Köstl, Gerhard, Feichtinger, Rene G., Entenmann, Andreas, Müller, Thomas, Knisely, A.S., Mayr, Johannes A., Janecke, Andreas R., Vodopiutz, Julia

Source: Journal of pediatric gastroenterology and nutrition. 68(1):e1-e6

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100181717437.0x000001&indx=1&recIds=ETOCvdc_100181717437.0x000001

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.

Authors: Herle, Marion¹ (AUTHOR), Brunner-Krainz, Michaela² (AUTHOR), Karall, Daniela³ (AUTHOR), Goeschl, Bernadette¹ (AUTHOR), Möslinger, Dorothea¹ (AUTHOR), Zobel, Joachim² (AUTHOR), Plecko, Barbara² (AUTHOR), Scholl-Bürgi, Sabine³ (AUTHOR), Spenger, Johannes⁴ (AUTHOR), Wortmann, Saskia B.^4,5 (AUTHOR), Huemer, Martina^6,7 (AUTHOR) martina.huemer@lkhb.at

Source: Orphanet Journal of Rare Diseases. 8/19/2021, Vol. 16 Issue 1, p1-7. 7p.

Subject Terms: *COVID-19 pandemic, *TEENAGERS, *DISEASE management, *JUVENILE diseases, *STAY-at-home orders, *CHILDREN with disabilities

Geographic Terms: AUSTRIA

Company/Entity: WORLD Health Organization

Clinical-Pathological Conference Series from the Medical University of Graz

Authors: Fabian, Elisabeth, Schiller, Dietmar, Toplak, Hermann, Brunner-Krainz, Michaela, Fazekas, Franz, Schoefl, Rainer, Krejs, Guenter J.

Source: Wiener klinische Wochenschrift. 130(3-4):151-160

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Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

Authors: Grünert, Sarah C., Derks, Terry G.J., Adrian, Katarina, Al-Thihli, Khalid, Ballhausen, Diana, Bidiuk, Joanna, Bordugo, Andrea, Boyer, Monica, Bratkovic, Drago, Brunner-Krainz, Michaela, Burlina, Alberto, Chakrapani, Anupam, Corpeleijn, Willemijn, Cozens, Alison, Dawson, Charlotte, Dhamko, Helena, Milosevic, Maja Djordjevic, Eiroa, Hernan, Finezilber, Yael, Moura de Souza, Carolina Fischinger, Garcia-Jiménez, Maria Concepción, Gasperini, Serena, Haas, Dorothea, Häberle, Johannes, Halligan, Rebecca, Fung, Law Hiu, Hörbe-Blindt, Alexandra, Horka, Laura Maria, Huemer, Martina, Uçar, Sema Kalkan, Kecman, Bozica, Kilavuz, Sebile, Kriván, Gergely, Lindner, Martin, Lüsebrink, Natalia, Makrilakis, Konstantinos, Mei-Kwun Kwok, Anne, Maier, Esther M., Maiorana, Arianna, McCandless, Shawn E., Mitchell, John James, Mizumoto, Hiroshi, Mundy, Helen, Ochoa, Carlos, Pierce, Kathryn, Fraile, Pilar Quijada, Regier, Debra, Rossi, Alessandro, Santer, René, Schuman, Hester C., Sobieraj, Piotr, Spenger, Johannes, Spiegel, Ronen, Stepien, Karolina M., Tal, Galit, Tanšek, Mojca Zerjav, Torkar, Ana Drole, Tchan, Michel, Thyagu, Santhosh, Schrier Vergano, Samantha A., Vucko, Erika, Weinhold, Natalie, Zsidegh, Petra, Wortmann, Saskia B.

Source: In Genetics in Medicine August 2022 24(8):1781-1788

Unrelated CD3/CD19-Depleted Peripheral Stem Cell Transplantation for Hurler Syndrome

Authors: Schwinger, Wolfgang, Sovinz, Petra, Benesch, Martin, Lackner, Herwig, Seidel, Markus, Strenger, Volker, Sperl, Daniela, Raicht, Andrea, Brunner-Krainz, Michaela, Paschke, Eduard, Plecko, Barbara, Urban, Christian

Source: Pediatric hematology and oncology. 31(8):723-730

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100104089547.0x000001&indx=1&recIds=ETOCvdc_100104089547.0x000001

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

Authors: Bölsterli, Bigna K., Boltshauser, Eugen, Palmieri, Luigi, Spenger, Johannes, Brunner-Krainz, Michaela, Distelmaier, Felix, Freisinger, Peter, Geis, Tobias, Gropman, Andrea L., Häberle, Johannes, Hentschel, Julia, Jeandidier, Bruno, Karall, Daniela, Keren, Boris, Klabunde-Cherwon, Annick, Konstantopoulou, Vassiliki, Kottke, Raimund, Lasorsa, Francesco M., Makowski, Christine, Mignot, Cyril

Source: Nutrients; Sep2022, Vol. 14 Issue 17, p3605, 30p

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).

Authors: Karall, Daniela¹ daniela.karall@i-med.ac.at, Brunner-Krainz, Michaela², Kogelnig, Katharina¹, Konstantopoulou, Vassiliki³, Maier, Esther M.⁴, Möslinger, Dorothea³, Plecko, Barbara⁵, Sperl, Wolfgang⁶, Volkmar, Barbara⁶, Scholl-Bürgi, Sabine¹

Source: Orphanet Journal of Rare Diseases. Apr2015, Vol. 10 Issue 1, p1-11. 11p.

Subject Terms: *FATTY acid oxidation, *DEHYDROGENASES, *CREATINE kinase, *PREECLAMPSIA, *MOTOR ability

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Authors: Grünert Sarah C, Müllerleile Stephanie, De Silva Linda, Barth Michael, Walter Melanie, Walter Kerstin, Meissner Thomas, Lindner Martin, Ensenauer Regina, Santer René, Bodamer Olaf A, Baumgartner Matthias R, Brunner-Krainz Michaela, Karall Daniela, Haase Claudia, Knerr Ina, Marquardt Thorsten, Hennermann Julia B, Steinfeld Robert, Beblo Skadi, Koch Hans-Georg, Konstantopoulou Vassiliki, Scholl-Bürgi Sabine, van Teeffelen-Heithoff Agnes, Suormala Terttu, Sperl Wolfgang, Kraus Jan P, Superti-Furga Andrea, Schwab Karl Otfried, Sass Jörn Oliver

Source: Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 6 (2013)

Subject Terms: Propionic acidemia, Branched-chain amino acids, Outcome, Quality of life, Clinical course, Physical development, Neurocognitive development, IQ, Long-term complications, Propionyl-coenzyme A carboxylase deficiency, Medicine

File Description: electronic resource

Relation: http://www.ojrd.com/content/8/1/6; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/218c67c71a224b6abe087e07048905d0

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Normal Ascorbic Acid in Cerebrospinal Fluid of Patients with Infantile Neuronal Ceroid-Lipofuscinosis.

Authors: Sass, Jörn, Skladal, Daniela, Brunner-Krainz, Michaela

Source: Metabolic Brain Disease; Mar1999, Vol. 14 Issue 1, p67-70, 4p

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