Saskia Wortmann

2025

Vaccine safety in children with genetically confirmed mitochondrial disease

de Vreugd, A., Zimmermann, F. A. (First author), Steinbruecker, K. (Co-author), de Vries, M. C., de Boer, L., Janssen, M. C. H., Huemer, M. & Wortmann, S. B. (Last author), Feb 2025, In: IMMUNOLOGY LETTERS . 271, 6 p., 106946.

Research output: Contribution to journal › Original Article › peer-review

2024

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

Smith, C., Laugel-Haushalter, V., Hany, U., Best, S., Taylor, R., Poulter, J., Wortmann, S. (Co-author), Feichtinger, R. (Co-author), Mayr, J. (Co-author), Al Bahlani, S., Nikolopoulos, G., Rigby, A., Black, G., Watson, C., Mansour, S., Inglehearn, C., Mighell, A., Bloch-Zupan, A., UK Inherited Retinal Dystrophy Consortium (UKIRDC) & Genomes England Research Consortium (GERC), Jul 2024, In: JOURNAL OF MEDICAL GENETICS . 61, 7, p. 689-698 10 p.

Research output: Contribution to journal › Original Article › peer-review

Open Access

1 Citation (Web of Science)

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants

Wortmann, S. B. (First author), Feichtinger, R. G. (Co-author), Abela, L., van Gemert, L. A., Aubart, M., Dufeu-Berat, C.-M., Boddaert, N., de Coo, R., Stühn, L., Hebbink, J., Heinritz, W., Hildebrandt, J., Himmelreich, N., Korenke, C., Lehman, A., Leyland, T., Makowski, C., Martinez Marin, R. J., Marzin, P. & Mühlhausen, C. & 15 others, Rio, M., Rotig, A., Roux, C.-J., Schiff, M., Haack, T. B., Syrbe, S., Zylicz, S. A., Thiel, C., Veiga da Cunha, M., van Schaftingen, E., Wagner, M., Mayr, J. A. (Co-author), Wevers, R. A., Boltshauser, E. & Willemsen, M. A., Apr 2024, In: NEUROLOGY-GENETICS. 10, 2, p. e200146 13 p., e200146.

Research output: Contribution to journal › Original Article › peer-review

Open Access

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

Blickhaeuser, B., Stenton, S. L., Neuhofer, C. M. (Co-author), Floride, E. (Co-author), Nesbitt, V., Fratter, C., Koch, J. (Co-author), Kauffmann, B., Catarino, C., Schlieben, L. D., Kopajtich, R., Carelli, V., Sadun, A. A., McFarland, R., Fang, F., La Morgia, C., Paquay, S., Nassogne, M. C., Ghezzi, D. & Lamperti, C. & 4 others, Wortmann, S. (Co-author), Poulton, J., Klopstock, T. & Prokisch, H., 3 Jun 2024, In: BRAIN . 147, 6, p. 1967-1974 8 p.

Research output: Contribution to journal › Original Article › peer-review

Open Access

6 Citations (Web of Science)

Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b

Gruenert, S. C., Gautschi, M., Baker, J., Boyer, M., Burlina, A., Casswall, T., Corpeleijn, W., Ciki, K., Cotter, M., Crushell, E., Derks, T. G. J., Haas, D., Kilavuz, S., Kingma, S. D. K., Korman, S. H., Kozek, A., de Laet, C., Mundy, H., Nassogne, M. C. & Quintero, V. & 8 others, Rossi, A., Spenger, J. (Co-author), Spiegel, R., Stephenne, X., Stojkov, D., Tal, G., Cunha, M.V.-D. & Wortmann, S. B. (Last author), Jun 2024, In: MOLECULAR GENETICS AND METABOLISM . 142, 2, 6 p., 108486.

Research output: Contribution to journal › Original Article › peer-review

1 Citation (Web of Science)

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children

Heath, O. (First author), Hammerl, E. (Co-author), Spitzinger, A. (Co-author) & Wortmann, S. B. (Last author), 14 May 2024, In: JOURNAL OF PERSONALIZED MEDICINE. 14, 5, 14 p., 523.

Research output: Contribution to journal › Original Article › peer-review

Open Access

1 Citation (Web of Science)

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

Morales-Romero, B., Muñoz-Pujol, G., Artuch, R., García-Cazorla, A., O'Callaghan, M., Sykut-Cegielska, J., Campistol, J., Moreno-Lozano, P. J., Oud, M. M., Wevers, R. A., Lefeber, D. J., Esteve-Codina, A., Yepez, V. A., Gagneur, J., Wortmann, S. B. (Co-author), Prokisch, H., Ribes, A., García-Villoria, J. & Tort, F., Jul 2024, In: MOLECULAR GENETICS AND METABOLISM . 142, 3, p. 108511 10 p., 108511.

Research output: Contribution to journal › Original Article › peer-review

Ketogenic diet in adult patients with mitochondrial myopathy

Zweers, H. E. E., Kroesen, S. H., Beerlink, G., Buit, E., Gerrits, K., Dorhout, A., van Wegberg, A. M. J., Janssen, M. C. H., Wortmann, S. B. (Co-author), Timmers, S. & Saris, C. G. J., Dec 2024, In: MOLECULAR GENETICS AND METABOLISM . 143, 4, 9 p., 108610.

Research output: Contribution to journal › Original Article › peer-review

Open Access

1 Citation (Web of Science)

Loss-of-Function Variants in <i>CUL3</i> Cause a Syndromic Neurodevelopmental Disorder

Blackburn, P. R., Ebstein, F., Hsieh, T.-C., Motta, M., Radio, F. C., Herkert, J. C., Rinne, T., Thiffault, I., Rapp, M., Alders, M., Maas, S., Gerard, B., Smol, T., Vincent-Delorme, C., Cogne, B., Isidor, B., Vincent, M., Bachmann-Gagescu, R., Rauch, A. & Joset, P. & 59 others, Ferrero, G. B., Ciolfi, A., Husson, T., Guerrot, A.-M., Bacino, C., Macmurdo, C., Thompson, S. S., Rosenfeld, J. A., Faivre, L., Mau-Them, F. T., Deb, W., Vignard, V., Agrawal, P. B., Madden, J. A., Goldenberg, A., Lecoquierre, F., Zech, M., Prokisch, H., Necpal, J., Jech, R., Winkelmann, J., Koprusakova, M. T., Konstantopoulou, V., Younce, J. R., Shinawi, M., Mighton, C., Fung, C., Morel, C. F., Lerner-Ellis, J., Ditroia, S., Barth, M., Bonneau, D., Krapels, I., Stegmann, A. P. A., van Der Schoot, V., Brunet, T., Bussmann, C., Mignot, C., Zampino, G., Wortmann, S. B. (Co-author), Mayr, J. A. (Co-author), Feichtinger, R. G. (Co-author), Courtin, T., Ravelli, C., Keren, B., Ziegler, A., Hasadsri, L., Pichurin, P. N., Klee, E. W., Grand, K., Sanchez-Lara, P. A., Krueger, E., Bezieau, S., Klinkhammer, H., Krawitz, P. M., Eichler, E. E., Tartaglia, M., Kuery, S. & Wang, T., 20 Sept 2024, In: ANNALS OF NEUROLOGY . 14 p.

Research output: Contribution to journal › Original Article › peer-review

1 Citation (Web of Science)

Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know

Heath, O. (First author), Feichtinger, R. G. (Co-author), Achleitner, M. T. (Co-author), Hofbauer, P., Mayr, D., Merkevicius, K., Spenger, J. (Co-author), Steinbrücker, K. (Co-author), Steindl, C., Tiefenthaler, E., Mayr, J. A. (Co-author) & Wortmann, S. B. (Last author), 15 Dec 2024, (E-pub ahead of print) In: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 54, p. 75-88 14 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

Mitochondrial DNA-encoded defects

Wagner, M. & Wortmann, S., 2024, Neurogenetics for the Practitioner. Elsevier

Research output: Chapter in Book/Report/Conference proceeding › Chapter

New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center

Gramer, G., Wortmann, S. B. (Co-author), Fang-Hoffmann, J., Kohlmüller, D., Okun, J. G., Prokisch, H., Meitinger, T. & Hoffmann, G. F., 27 Feb 2024, In: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 10, 1

Research output: Contribution to journal › Original Article › peer-review

Open Access

1 Citation (Web of Science)

Novel bi-allelic CAD variants cause epileptic encephalopathy responsive to triacetyluridine supplementation

Anderson, K., Wiltrout, K., Giummo, C., Wortmann, S. B., Freeze, H., del Cano Ochoa, F. & Ramon, S., Apr 2024, In: MOLECULAR GENETICS AND METABOLISM . 141, 4, 1 p.

Research output: Contribution to journal › Abstract (Journal) › peer-review

Palliative care for children and young people with life-limiting inherited metabolic diseases

Spenger, J., Wortmann, S. & Rajapakse, D., 2024, Metabolism links rare and common diseases: Workshop proceedings of the 54th European Metabolic Group Conference. European Metabolic Group, p. 9-21

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessment

Derks, T., Venema, A., Köller, C. (Co-author), Bos, E., Overduin, R., Stolwijk, N., Hofbauer, P., Bolhuis, M., van Eenennaam, F., Groen, H., Hollak, C. & Wortmann, S. (Last author), Mar 2024, In: JOURNAL OF INHERITED METABOLIC DISEASE . 47, 2, p. 244-254 11 p.

Research output: Contribution to journal › Original Article › peer-review

Open Access

2 Citations (Web of Science)

Response to Kulseth

Vogel, G. F., Feichtinger, R. G. (Co-author), Mayr, J. A. (Co-author) & Wortmann, S. B. (Last author), Mar 2024, In: GENETICS IN MEDICINE . 26, 3, p. 101040 3 p., 101040.

Research output: Contribution to journal › Letter to the editor › peer-review

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

Knopfli, S., Goeschl, B., Zeyda, M., Baghdasaryan, A., Baumgartner-Kaut, M., Baumgartner, M. R., Herle, M., Margreitter, J., Poms, M., Wortmann, S. B. (Co-author), Konstantopoulou, V. & Huemer, M., Jun 2024, In: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 10, 2, 12 p., 40.

Research output: Contribution to journal › Original Article › peer-review

Open Access

Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop

Grünert, S. C., Derks, T. G. J., Mundy, H., Dalton, R. N., Donadieu, J., Hofbauer, P., Jones, N. (Co-author), Uçar, S. K., LaFreniere, J., Contreras, E. L., Pendyal, S., Rossi, A., Schneider, B., Spiegel, R., Stepien, K. M., Wesol-Kucharska, D., Veiga-da-Cunha, M. & Wortmann, S. B. (Last author), Mar 2024, In: MOLECULAR GENETICS AND METABOLISM . 141, 3, p. 108144 8 p., 108144.

Research output: Contribution to journal › Review article › peer-review

Open Access

7 Citations (Web of Science)

2023

A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease. New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease

Astner-Rohracher, A. (First author), Mauritz, M. (Co-author), Leitinger, M. (Co-author), Rossini, F. (Co-author), Kalss, G. (Co-author), Neuray, C., Retter, E., Wortmann, S. (Co-author), Achleitner, M. T., Mayr, J. A. (Co-author) & Trinka, E. (Last author), 2023, In: Frontiers in Neuroscience. 13, p. 1063733

Research output: Contribution to journal › Case report › peer-review

6 Citations (Web of Science)

Beyond genetics: Deciphering the impact of missense variants in CAD deficiency. Deciphering the impact of missense variants in CAD deficiency

Del Caño-Ochoa, F., Ng, B. G., Rubio-Del-Campo, A., Mahajan, S., Wilson, M. P., Vilar, M., Rymen, D., Sánchez-Pintos, P., Kenny, J., Ley Martos, M., Campos, T., Wortmann, S. B. (Last author), Freeze, H. H. & Ramón-Maiques, S., Nov 2023, In: JOURNAL OF INHERITED METABOLIC DISEASE . 46, 6, p. 1170-1185 16 p.

Research output: Contribution to journal › Original Article › peer-review

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Kaiyrzhanov, R., Mohammed, S., Maroofian, R., Husain, R., Catania, A., Torraco, A., Alahmad, A., Dutra-Clarke, M., Gronborg, S., Sudarsanam, A., Vogt, J., Arrigoni, F., Baptista, J., Haider, S., Feichtinger, R., Bernardi, P., Zulian, A., Gusic, M., Efthymiou, S. & Bai, R. & 30 others, Horga, A., Martinez-Agosto, J., Rodriguez, D., Durigon, R., Pyle, A., Albash, B., Vici, C., Murphy, D., Martinelli, D., Bugiardini, E., Allis, K., Lamperti, C., Risom, L., Laugwitz, L., Di Nottia, M., McFarland, R., Vilarinho, L., Hanna, M., Prokisch, H., Mayr, H., Bertini, E., Ghezzi, D., Ostergaard, E., Wortmann, S., Carrozzo, R., Haack, T., Taylor, R., Spinazzola, A., Nowikovsky, K. & Houlden, H., 11 May 2023, In: EUROPEAN JOURNAL OF HUMAN GENETICS . 31, 55th European-Society-of-Human-Genetics (ESHG) Conference, p. 24-25 2 p.

Research output: Contribution to journal › Abstract (Journal) › peer-review

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.

Feichtinger, R. (First author), Preisel, M., Brugger, K., Wortmann, S. (Last author) & Mayr, J. A. (Last author), 2023, In: GENES. 14, 6

Research output: Contribution to journal › Case report › peer-review

4 Citations (Web of Science)

Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey

Mancuso, M., Lopriore, P., Lamperti, C., Klopstock, T., Rahman, S., Licchetta, L., Kornblum, C., Wortmann, S. B. (Co-author), Dollfus, H., Papadopoulou, M. T., Arzimanoglou, A., Scarpa, M., Graessner, H. & Evangelista, T., 13 Oct 2023, In: JOURNAL OF NEUROLOGY . 6 p.

Research output: Contribution to journal › Original Article › peer-review

Open Access

Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome.

van Gemert, L. A., van Alfen, N., van Gaal, L., Wortmann, S. (Co-author) & Willemsen, M. A., Dec 2023, In: NEUROPEDIATRICS . 54, 6, p. 365-370 6 p.

Research output: Contribution to journal › Original Article › peer-review

5 Citations (Web of Science)

Genetic landscape of pediatric acute liver failure of indeterminate origin

Lenz, D., Schlieben, L. D., Shimura, M., Bianzano, A., Smirnov, D., Kopajtich, R., Berutti, R., Adam, R., Aldrian, D., Baric, I., Baumann, U., Bozbulut, N. E., Brugger, M., Brunet, T., Bufler, P., Burnytė, B., Calvo, P. L., Crushell, E., Dalgıç, B. & Das, A. M. & 75 others, Dezsőfi, A., Distelmaier, F., Fichtner, A., Freisinger, P., Garbade, S. F., Gaspar, H., Goujon, L., Hadzic, N., Hartleif, S., Hegen, B., Hempel, M., Henning, S., Hoerning, A., Houwen, R., Hughes, J., Iorio, R., Iwanicka-Pronicka, K., Jankofsky, M., Junge, N., Kanavaki, I., Kansu, A., Kaspar, S., Kathemann, S., Kelly, D., Kırsaçlıoğlu, C. T., Knoppke, B., Kohl, M., Kölbel, H., Kölker, S., Konstantopoulou, V., Krylova, T., Kuloğlu, Z., Kuster, A., Laass, M. W., Lainka, E., Lurz, E., Mandel, H., Mayerhanser, K., Mayr, J. A. (Co-author), McKiernan, P., McLean, P., McLin, V., Mention, K., Müller, H., Pasquier, L., Pavlov, M., Pechatnikova, N., Peters, B., Petković Ramadža, D., Piekutowska-Abramczuk, D., Pilic, D., Rajwal, S., Rock, N., Roetig, A., Santer, R., Schenk, W., Semenova, N., Sokollik, C., Sturm, E., Taylor, R. W., Tschiedel, E., Urbonas, V., Urreizti, R., Vermehren, J., Vockley, J., Vogel, G.-F., Wagner, M., van der Woerd, W., Wortmann, S. B. (Co-author), Zakharova, E., Hoffmann, G. F., Meitinger, T., Murayama, K., Staufner, C. & Prokisch, H., 17 Nov 2023, (E-pub ahead of print) In: HEPATOLOGY .

Research output: Contribution to journal › Original Article › peer-review

Open Access

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

Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. (Co-author), Mayr, J. A. (Co-author), Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D. & Das, A. M. & 41 others, Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J.-S., Weghuber, D. (Co-author) & Wortmann, S. (Last author), 2023, In: GENETICS IN MEDICINE . 25, 6, p. 100314

Research output: Contribution to journal › Original Article › peer-review

10 Citations (Web of Science)

Investigating the role of ASCC1 in the causation of bone fragility.

Voraberger, B., Mayr, J. A. (Co-author), Fratzl-Zelman, N., Blouin, S., Uday, S., Kopajtich, R., Koedam, M., Hödlmayr, H., Wortmann, S. (Co-author), Csillag, B., Prokisch, H., van der Eerden, B. C. J., El-Gazzar, A. & Högler, W., 2023, In: FRONTIERS IN ENDOCRINOLOGY. 14, p. 1137573

Research output: Contribution to journal › Original Article › peer-review

2 Citations (Web of Science)

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties

Cioclu, M. C., Mosca, I., Ambrosino, P., Puzo, D., Bayat, A., Wortmann, S. B. (Co-author), Koch, J. (Co-author), Strehlow, V., Shirai, K., Matsumoto, N., Sanders, S. J., Michaud, V., Legendre, M., Riva, A., Striano, P., Muhle, H., Pendziwiat, M., Lesca, G., Mangano, G. D. & Nardello, R. & 5 others, Lemke, J. R., Møller, R. S., Soldovieri, M. V., Rubboli, G. & Taglialatela, M., Aug 2023, In: ANNALS OF NEUROLOGY . 94, 2, p. 332-349 18 p.

Research output: Contribution to journal › Original Article › peer-review

Open Access

12 Citations (Web of Science)

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sheppard, S. E., Bryant, L., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Simon, M. C., de la Cruz, X., Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D. & March, M. & 100 others, Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z. X., Lim, C. Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., van Haeringen, A., Snoeck-Streef, I., Chow, P., Hing, A., Graham, J. M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M. F., Kumar, A., Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., van Ierland, Y., Wilke, M., van Slegtenhorst, M., Koudijs, S., Chen, J. Y., Dredge, D., Pier, D., Wortmann, S. (Co-author), Kamsteeg, E.-J., Koch, J. (Co-author), Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A.-S., Weber, S., Pérez de la Fuente, R., Sánchez Del Pozo, J., Lezana Rosales, J. M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A. M., Tan, T. Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T. G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F. J., Kuechler, A., Busk, Ø. L., Islam, L., Siedlik, J. A., Henderson, L. B., Juusola, J., Person, R., Schnur, R. E., Vitobello, A., Banka, S., Bhoj, E. J. & Stessman, H. A. F., 2023, In: SCIENCE ADVANCES. 9, 10, p. eade1463

Research output: Contribution to journal › Original Article › peer-review

4 Citations (Web of Science)

MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases.

Post, M. A., de Wit, I., Zijlstra, F. S. M., Engelke, U. F. H., van Rooij, A., Christodoulou, J., Tan, T. Y., Le Fevre, A., Jin, D., Yaplito-Lee, J., Lee, B. H., Low, K. J., Mallick, A. A., Õunap, K., Pitt, J., Reardon, W., Vals, M.-A., Wortmann, S. (Co-author), Wessels, H. J. C. T. & Bärenfänger, M. & 2 others, van Karnebeek, C. D. M. & Lefeber, D. J., Mar 2023, In: JOURNAL OF INHERITED METABOLIC DISEASE . 46, 2, p. 313-325 13 p.

Research output: Contribution to journal › Original Article › peer-review

7 Citations (Web of Science)

Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual.

Steinbrücker, K. (First author), Tiefenthaler, E., Schernthaner, E.-M., Jungwirth, J. & Wortmann, S. (Last author), Feb 2023, In: NEUROPEDIATRICS . 54, 1, p. 78-81 4 p.

Research output: Contribution to journal › Original Article › peer-review

4 Citations (Web of Science)

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

Grünert, S. C., Venema, A., LaFreniere, J., Schneider, B., Contreras, E., Wortmann, S. B. (Co-author) & Derks, T. G. J., 2023, In: JIMD REPORTS. 64, 3, p. 252-258 7 p.

Research output: Contribution to journal › Original Article › peer-review

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

Achleitner, M. T. (First author), Jans, J. J. M., Ebner, L., Spenger, J. (Co-author), Konstantopoulou, V., Feichtinger, R. G. (Co-author), Brugger, K., Mayr, D., Wevers, R. A., Thiel, C., Wortmann, S. B. (Last author) & Mayr, J. A. (Last author), 10 Nov 2023, In: METABOLITES. 13, 11

Research output: Contribution to journal › Original Article › peer-review

Open Access

Pyruvaat Dehydrogenase Complex Deficiëntie (PDHD)

van Wegberg, A. M. J., van Essen, H. Z. & Wortmann, S., 2023, Handboek Dieetbehandeling bij erfelijke stofwisselingsziekten. DIES Diëtisten Erfelijke Stofwisselingsziekten

Research output: Chapter in Book/Report/Conference proceeding › Chapter

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

Fasham, J., Huebner, A. K., Liebmann, L., Khalaf-Nazzal, R., Maroofian, R., Kryeziu, N., Wortmann, S. B. (Co-author), Leslie, J. S., Ubeyratna, N., Mancini, G. M. S., van Slegtenhorst, M., Wilke, M., Haack, T. B., Shamseldin, H., Gleeson, J. G., Almuhaizea, M., Dweikat, I., Abu-Libdeh, B., Daana, M. & Zaki, M. S. & 10 others, Wakeling, M. N., McGavin, L., Turnpenny, P. D., Alkuraya, F. S., Houlden, H., Schlattmann, P., Kaila, K., Crosby, A. H., Baple, E. L. & Hübner, C. A., 2 Nov 2023, In: BRAIN . 146, 11, p. 4547-4561 15 p.

Research output: Contribution to journal › Original Article › peer-review

6 Citations (Web of Science)

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.

Krenn, M., Sener, M., Rath, J., Zulehner, G., Keritam, O., Wagner, M., Laccone, F., Iglseder, S., Marte, S., Baumgartner, M., Eisenkölbl, A., Liechtenstein, C., Rudnik, S., Quasthoff, S., Grinzinger, S. (Co-author), Spenger, J. (Co-author), Wortmann, S. (Co-author), Löscher, W. N., Zimprich, F. & Kellersmann, A. & 4 others, Rappold, M., Bernert, G., Freilinger, M. & Cetin, H., Feb 2023, In: JOURNAL OF NEUROLOGY . 270, 2, p. 909-916 8 p.

Research output: Contribution to journal › Original Article › peer-review

11 Citations (Web of Science)

The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology

Schlieben, L., Lenz, D., Shimura, M., Bianzano, A., Smirnov, D., Kopajtich, R., Adam, R., Vogel, G., Baric, I., Bufler, P., Burnyte, B., Calvo, P., Crushell, E., Das, A., Distelmaier, F., Freisinger, P., Hadzic, N., Hartleif, S., Hempel, M. & Kansu, A. & 22 others, Kaspar, S., Kelly, D., Knoppke, B., Konstantopoulou, V., Krylova, T., Alice, K., Lainka, E., Lurz, E., Mandel, H., McKiernan, P., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Taylor, R., Wortmann, S., Vockley, J., Kölker, S., Hoffmann, G., Meitinger, T., Murayama, K., Staufner, C. & Prokisch, H., 11 May 2023, In: EUROPEAN JOURNAL OF HUMAN GENETICS . 31, 55th European-Society-of-Human-Genetics (ESHG) Conference, p. 32-33 2 p.

Research output: Contribution to journal › Abstract (Journal) › peer-review

Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.

Oswald, S. L., Steinbrücker, K. (First author), Achleitner, M. (Co-author), Göschl, E., Bittner, R. E., Schmidt, W. M., Tiefenthaler, E., Hammerl, E. (Co-author), Eisl, A., Mayr, D., Mayr, J. A. (Co-author) & Wortmann, S. (Last author), 2023, In: NEUROPEDIATRICS . 54, 5, p. 351-355

Research output: Contribution to journal › Original Article › peer-review

5 Citations (Web of Science)

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

Veiga-da-Cunha, M., Wortmann, S. (Co-author), Grnnert, S. & Van Schaftingen, E., 19 May 2023, In: DIAGNOSTICS. 13, 10, p. 1803

Research output: Contribution to journal › Review article › peer-review

15 Citations (Web of Science)

2022

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.

Ramoser, G., Caferri, F., Radlinger, B., Brunner-Krainz, M., Herbst, S., Huemer, M., Hufgard-Leitner, M., Kircher, S. G., Konstantopoulou, V., Löscher, W., Möslinger, D., Plecko, B., Spenger, J. (Co-author), Stulnig, T., Sunder-Plassmann, G., Wortmann, S. (Co-author), Scholl-Bürgi, S. & Karall, D., 2022, In: JOURNAL OF INHERITED METABOLIC DISEASE . 45, 2, p. 144-156

Research output: Contribution to journal › Original Article › peer-review

10 Citations (Web of Science)

3-Methylglutaconic Acidurias

Wortmann, S. & Mayr, J. A., 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Nenad Blau (ed.). Springer Verlag, p. 1417-1431

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Assessing pathogenicity of novel mitochondrial DNA variants

Winkler, A., Ahting, U., Lorenz-Depiereux, B., Berutti, R., Mayr, J. A., Husain, R., Hahn, A., Scholle, L., Rosenbohm, A., Lisfeld, J., Hempel, M., Muller-Felber, W., Catarino, C., Strom, T., Meitinger, T., Klopstock, T., Thorburn, D., Christodoulou, J., Prokisch, H. & Wortmann, S. & 1 others, Wagner, M., 2022, In: EUROPEAN JOURNAL OF HUMAN GENETICS . 30, SUPPL 1, p. 203-204

Research output: Contribution to journal › Abstract (Journal) › peer-review

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

Feichtinger, R. (First author), Preisel, M., Steinbrücker, K. (Co-author), Brugger, K., Radda, A., Wortmann, S. (Last author) & Mayr, J. A. (Last author), 2022, In: GENES. 13, 12

Research output: Contribution to journal › Case report › peer-review

2 Citations (Web of Science)

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Kaiyrzhanov, R., Mohammed, S. E. M., Maroofian, R., Husain, R. A., Catania, A., Torraco, A., Alahmad, A., Dutra-Clarke, M., Grønborg, S., Sudarsanam, A., Vogt, J., Arrigoni, F., Baptista, J., Haider, S., Feichtinger, R. (Co-author), Bernardi, P., Zulian, A., Gusic, M., Efthymiou, S. & Bai, R. & 34 others, Bibi, F., Horga, A., Martinez-Agosto, J. A., Lam, A., Manole, A., Rodriguez, D.-P., Durigon, R., Pyle, A., Albash, B., Dionisi-Vici, C., Murphy, D., Martinelli, D., Bugiardini, E., Allis, K., Lamperti, C., Reipert, S., Risom, L., Laugwitz, L., Di Nottia, M., McFarland, R., Vilarinho, L., Hanna, M., Prokisch, H., Mayr, J. A. (Co-author), Bertini, E. S., Ghezzi, D., Østergaard, E., Wortmann, S. (Co-author), Carrozzo, R., Haack, T. B., Taylor, R. W., Spinazzola, A., Nowikovsky, K. & Houlden, H., 2022, In: AMERICAN JOURNAL OF HUMAN GENETICS . 109, 9, p. 169-1712

Research output: Contribution to journal › Original Article › peer-review

5 Citations (Web of Science)

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Yépez, V. A., Gusic, M., Kopajtich, R., Mertes, C., Smith, N. H., Alston, C. L., Ban, R., Beblo, S., Berutti, R., Blessing, H., Ciara, E., Distelmaier, F., Freisinger, P., Häberle, J., Hayflick, S. J., Hempel, M., Itkis, Y. S., Kishita, Y., Klopstock, T. & Krylova, T. D. & 33 others, Lamperti, C., Lenz, D., Makowski, C., Mosegaard, S., Müller, M. F., Muñoz-Pujol, G., Nadel, A., Ohtake, A., Okazaki, Y., Procopio, E., Schwarzmayr, T., Smet, J., Staufner, C., Stenton, S. L., Strom, T. M., Terrile, C., Tort, F., Van Coster, R., Vanlander, A., Wagner, M., Xu, M., Fang, F., Ghezzi, D., Mayr, J. A. (Co-author), Piekutowska-Abramczuk, D., Ribes, A., Rötig, A., Taylor, R. W., Wortmann, S. (Co-author), Murayama, K., Meitinger, T., Gagneur, J. & Prokisch, H., 2022, In: GENOME MEDICINE. 14, 1, p. 38

Research output: Contribution to journal › Original Article › peer-review

93 Citations (Web of Science)

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Scala, M., Wortmann, S. (First author), Kaya, N., Stellingwerff, M. D., Pistorio, A., Glamuzina, E., van Karnebeek, C. D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T. B. & Prokisch, H. & 55 others, Aldhalaan, H., Karimiani, E. G., Yildiz, Y., Ceylan, A. C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M. B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H. S., Maqbool, S., Farid, A., Al-Muhaizea, M. A., Alshwameen, M. O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A. H., AlRasheed, M. M., Colak, D., Alqudairy, H., Khan, S., Lines, M. A., García Cazorla, M. Á., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M. P., Taylor, J. C., Alsaif, H. S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q. S., Schmitt-Mechelke, T., Ziegler, A., Issa, M. Y., Elbendary, H. M., Striano, P., Alkuraya, F. S., Zaki, M. S., Gleeson, J. G., Barakat, T. S., Bierau, J., van der Knaap, M. S., Maroofian, R. & Houlden, H., 2022, In: HUMAN MUTATION . 43, 3, p. 403-419

Research output: Contribution to journal › Original Article › peer-review

13 Citations (Web of Science)

Disorders of Complex Lipids

Vaz, F. M., Wortmann, S. & Mochel, F., 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Nenad Blau (ed.). Springer Verlag, p. 1534

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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

Grünert, S. C., Derks, T. G. J., Adrian, K., Al-Thihli, K., Ballhausen, D., Bidiuk, J., Bordugo, A., Boyer, M., Bratkovic, D., Brunner-Krainz, M., Burlina, A., Chakrapani, A., Corpeleijn, W., Cozens, A., Dawson, C., Dhamko, H., Milosevic, M. D., Eiroa, H., Finezilber, Y. & Moura de Souza, C. F. & 44 others, Garcia-Jiménez, M. C., Gasperini, S., Haas, D., Häberle, J., Halligan, R., Fung, L. H., Hörbe-Blindt, A., Horka, L. M., Huemer, M., Uçar, S. K., Kecman, B., Kilavuz, S., Kriván, G., Lindner, M., Lüsebrink, N., Makrilakis, K., Mei-Kwun Kwok, A., Maier, E. M., Maiorana, A., McCandless, S. E., Mitchell, J. J., Mizumoto, H., Mundy, H., Ochoa, C., Pierce, K., Fraile, P. Q., Regier, D., Rossi, A., Santer, R., Schuman, H. C., Sobieraj, P., Spenger, J., Spiegel, R., Stepien, K. M., Tal, G., Tanšek, M. Z., Torkar, A. D., Tchan, M., Thyagu, S., Schrier Vergano, S. A., Vucko, E., Weinhold, N., Zsidegh, P. & Wortmann, S. (Last author), 2022, In: GENETICS IN MEDICINE . 24, 8, p. 1781-1788

Research output: Contribution to journal › Original Article › peer-review

41 Citations (Web of Science)

Genomic Approaches for the Diagnosis of Inborn Errors of Metabolism 147-163

Stenton, S., Mayr, J. A., Wortmann, S. & Prokisch, H., 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Nenad Blau (ed.). Springer Verlag, p. 147-163

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families (vol 7, 32, 2021)

Spenger, J. (First author), Maier, E., Wechselberger, K., Bauder, F., Kocher, M., Sperl, W. (Co-author), Preisel, M., Schiergens, K., Konstantopoulou, V., Roschinger, W., Haberle, J., Schmitt-Mechelke, T., Wortmann, S. (Co-author) & Fingerhut, R., 2022, In: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 8, 1, p. 2

Research output: Contribution to journal › Correction › peer-review

Saskia Wortmann

Research output

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