When to Measure Plasma Homocysteine and how to Place it in Context: The Homocystinurias

por Huemer, Martina
Publicado 2020

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism – a systematic review

por Zeltner, Nina A, Huemer, Martina, Baumgartner, Matthias R, Landolt, Markus A
Publicado 2014

Explaining juvenile idiopathic arthritis to paediatric patients using illustrations and easy-to-read texts: improvement of disease knowledge and adherence to treatment

por Reiser, Christiane, Zeltner, Nina A., Rettenbacher, Beatrix, Baumgaertner, Petra, Huemer, Martina, Huemer, Christian
Publicado 2021

Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus

por Bösch, Florin, Zeltner, Nina A., Baumgartner, Matthias R., Huemer, Martina, Landolt, Markus A.
Publicado 2022

FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review

por Ballout, Rami A., Al Alam, Chadi, Bonnen, Penelope E., Huemer, Martina, El-Hattab, Ayman W., Shbarou, Rolla
Publicado 2019

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

por Huemer, Martina, Kožich, Viktor, Rinaldo, Piero, Baumgartner, Matthias R., Merinero, Begoña, Pasquini, Elisabetta, Ribes, Antonia, Blom, Henk J.
Publicado 2015

Successful intrauterine treatment of a patient with cobalamin C defect

por Trefz, Friedrich K., Scheible, Dagmar, Frauendienst-Egger, Georg, Huemer, Martina, Suomala, Terttu, Fowler, Brian, Haas, Dorothea, Baumgartner, Matthias R.
Publicado 2016

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

por Huemer, Martina, Scholl-Bürgi, Sabine, Hadaya, Karine, Kern, Ilse, Beer, Ronny, Seppi, Klaus, Fowler, Brian, Baumgartner, Matthias R, Karall, Daniela
Publicado 2014

Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey

por Lagler, Florian B., Moder, Angelika, Rohrbach, Marianne, Hennermann, Julia, Mengel, Eugen, Gökce, Seyfullah, Hundsberger, Thomas, Rösler, Kai M., Karabul, Nesrin, Huemer, Martina
Publicado 2019

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

por Herle, Marion, Brunner-Krainz, Michaela, Karall, Daniela, Goeschl, Bernadette, Möslinger, Dorothea, Zobel, Joachim, Plecko, Barbara, Scholl-Bürgi, Sabine, Spenger, Johannes, Wortmann, Saskia B., Huemer, Martina
Publicado 2021

Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns

por Rozmarič, Tomaž, Mitulović, Goran, Konstantopoulou, Vassiliki, Goeschl, Bernadette, Huemer, Martina, Plecko, Barbara, Spenger, Johannes, Wortmann, Saskia B., Scholl-Bürgi, Sabine, Karall, Daniela, Greber-Platzer, Susanne, Zeyda, Maximilian
Publicado 2020

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

por 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
Publicado 2020

Suggested guidelines for the diagnosis and management of urea cycle disorders

por Häberle, Johannes, Boddaert, Nathalie, Burlina, Alberto, Chakrapani, Anupam, Dixon, Marjorie, Huemer, Martina, Karall, Daniela, Martinelli, Diego, Crespo, Pablo Sanjurjo, Santer, René, Servais, Aude, Valayannopoulos, Vassili, Lindner, Martin, Rubio, Vicente, Dionisi-Vici, Carlo
Publicado 2012

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

por Lenherr, Nina, Christodoulou, John, Duley, John, Dobritzsch, Doreen, Fairbanks, Lynette, Datta, Alexandre N., Filges, Isabel, Gürtler, Nicolas, Roelofsen, Jeroen, van Kuilenburg, André B.P., Kemper, Claudia, West, Erin E., Szinnai, Gabor, Huemer, Martina
Publicado 2021

Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism

por Bösch, Florin, Landolt, Markus A., Baumgartner, Matthias R., Fernandez, Susana, Forny, Patrick, Gautschi, Matthias, Grünert, Sarah C., Häberle, Johannes, Horvath, Carolina, Karall, Daniela, Lampis, Danila, Rohrbach, Marianne, Scholl-Bürgi, Sabine, Szinnai, Gabor, Huemer, Martina
Publicado 2022

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

por Zeltner, Nina A., Welsink-Karssies, Mendy M., Landolt, Markus A., Bosshard-Bullinger, Dominique, Keller, Fabia, Bosch, Annet M., Groenendijk, Marike, Grünert, Sarah C., Karall, Daniela, Rettenbacher, Beatrix, Scholl-Bürgi, Sabine, Baumgartner, Matthias R., Huemer, Martina
Publicado 2019

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 bet...

por 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
Publicado 2021

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

por Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi-Vici, Carlo
Publicado 2016

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

por Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.
Publicado 2021

Loss of CD4(+) T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection

por West, Erin E., Merle, Nicolas S., Kamiński, Marcin M., Palacios, Gustavo, Kumar, Dhaneshwar, Wang, Luopin, Bibby, Jack A., Overdahl, Kirsten, Jarmusch, Alan K., Freeley, Simon, Lee, Duck-Yeon, Thompson, J. Will, Yu, Zu-Xi, Taylor, Naomi, Sitbon, Marc, Green, Douglas R., Bohrer, Andrea, Mayer-Barber, Katrin D., Afzali, Behdad, Kazemian, Majid, Scholl-Buergi, Sabine, Karall, Daniela, Huemer, Martina, Kemper, Claudia
Publicado 2023