Choline‐related‐inherited metabolic diseases—A mini review

por Wortmann, Saskia B., Mayr, Johannes A.
Publicado 2019

“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing

por Kremer, Laura S., Wortmann, Saskia B., Prokisch, Holger
Publicado 2018

History of Repeated Bleeding from Intact Skin and Mucous Membranes: A Quiz

por WORTMANN, Saskia B., WELPONER, Tobias, LAIMER, Martin
Publicado 2021

Ketogenic diet for treating alopecia in BCS1l‐related mitochondrial disease (Bjornstad syndrome)

por Della Marina, Adela, Leiendecker, Baerbel, Roesch, Sebastian, Wortmann, Saskia B.
Publicado 2020

Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors

por Veiga-da-Cunha, Maria, Wortmann, Saskia B., Grünert, Sarah C., Van Schaftingen, Emile
Publicado 2023

Case Report—An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions

por Feichtinger, René G., Preisel, Martin, Brugger, Karin, Wortmann, Saskia B., Mayr, Johannes A.
Publicado 2023

Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety

por Zweers, Heidi, van Wegberg, Annemiek M. J., Janssen, Mirian C. H., Wortmann, Saskia B.
Publicado 2021

Correction to: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety

por Zweers, Heidi, van Wegberg, Annemiek M. J., Janssen, Mirian C. H., Wortmann, Saskia B.
Publicado 2021

The 3-methylglutaconic acidurias: what’s new?

por Wortmann, Saskia B., Kluijtmans, Leo A., Engelke, Udo F. H., Wevers, Ron A., Morava, Eva
Publicado 2010

Whole exome sequencing of suspected mitochondrial patients in clinical practice

por Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.
Publicado 2015

A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome

por Feichtinger, René G., Preisel, Martin, Steinbrücker, Katja, Brugger, Karin, Radda, Alexandra, Wortmann, Saskia B., Mayr, Johannes A.
Publicado 2022

Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study

por Grünert, Sarah C., Venema, Annieke, LaFreniere, Jamas, Schneider, Blair, Contreras, Enrique, Wortmann, Saskia B., Derks, Terry G. J.
Publicado 2023

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

por Lotz-Havla, Amelie S., Röschinger, Wulf, Schiergens, Katharina, Singer, Katharina, Karall, Daniela, Konstantopoulou, Vassiliki, Wortmann, Saskia B., Maier, Esther M.
Publicado 2018

Mitochondrial Disease and Hearing Loss in Children: A Systematic Review

por Roesch, Sebastian, O'Sullivan, Anna, Zimmermann, Georg, Mair, Alois, Lipuš, Cvetka, Mayr, Johannes A., Wortmann, Saskia B., Rasp, Gerd
Publicado 2022

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

por Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
Publicado 2020

Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730]

por Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
Publicado 2020

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

por Grünert, Sarah C., Elling, Roland, Maag, Bärbel, Wortmann, Saskia B., Derks, Terry G. J., Hannibal, Luciana, Schumann, Anke, Rosenbaum-Fabian, Stefanie, Spiekerkoetter, Ute
Publicado 2020

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

por Krenn, Martin, Knaus, Alexej, Westphal, Dominik S., Wortmann, Saskia B., Polster, Tilman, Woermann, Friedrich G., Karenfort, Michael, Mayatepek, Ertan, Meitinger, Thomas, Wagner, Matias, Distelmaier, Felix
Publicado 2019

Austrian study shows that delays in accessing acute paediatric health care outweighed the risks of COVID‐19

por Schaffert, Matthias, Zimmermann, Franz, Bauer, Leopold, Kastner, Simon, Schwarz, Astrid, Strenger, Volker, Metzger, Roman, Thun‐Hohenstein, Leonhard, Sperl, Wolfgang, Weghuber, Daniel, Wortmann, Saskia B.
Publicado 2020

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