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Mutation of the WARS2 Gene as the Cause of a Severe Hyperkinetic Movement Disorder.
Published in:
Movement Disorders Clinical Practice, 2020, v. 7, n. 1, p. 88, doi. 10.1002/mdc3.12855
By:
- Hübers, Annemarie;
- Huppertz, Hans‐Jürgen;
- Wortmann, Saskia B.;
- Kassubek, Jan
Publication type:
Article
Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children.
Published in:
Journal of Personalized Medicine, 2024, v. 14, n. 5, p. 523, doi. 10.3390/jpm14050523
By:
- Heath, Oliver;
- Hammerl, Emma;
- Spitzinger, Anna;
- Wortmann, Saskia B.
Publication type:
Article
A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder.
Published in:
EMBO Molecular Medicine, 2021, v. 13, n. 9, p. 1, doi. 10.15252/emmm.202114332
By:
- Feichtinger, René G;
- Hüllen, Andreas;
- Koller, Andreas;
- Kotzot, Dieter;
- Grote, Valerian;
- Rapp, Erdmann;
- Hofbauer, Peter;
- Brugger, Karin;
- Thiel, Christian;
- Mayr, Johannes A;
- Wortmann, Saskia B
Publication type:
Article
Diagnosis and Management of Drooling in Children With Progressive Dystonia.
Published in:
2016
By:
- Blommaert, Dorian;
- van Hulst, Karen;
- Hoogen, Frank J. A. van den;
- Erasmus, Corrie E.;
- Wortmann, Saskia B.
Publication type:
Case Study
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4547, doi. 10.1093/brain/awad235
By:
- Fasham, James;
- Huebner, Antje K;
- Liebmann, Lutz;
- Khalaf-Nazzal, Reham;
- Maroofian, Reza;
- Kryeziu, Nderim;
- Wortmann, Saskia B;
- Leslie, Joseph S;
- Ubeyratna, Nishanka;
- Mancini, Grazia M S;
- Slegtenhorst, Marjon van;
- Wilke, Martina;
- Haack, Tobias B;
- Shamseldin, Hanan E;
- Gleeson, Joseph G;
- Almuhaizea, Mohamed;
- Dweikat, Imad;
- Abu-Libdeh, Bassam;
- Daana, Muhannad;
- Zaki, Maha S
Publication type:
Article
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Published in:
2019
By:
- Vaz, Frédéric M;
- McDermott, John H;
- Alders, Mariëlle;
- Wortmann, Saskia B;
- Kölker, Stefan;
- Pras-Raves, Mia L;
- Vervaart, Martin A T;
- Lenthe, Henk van;
- Luyf, Angela C M;
- Elfrink, Hyung L;
- Metcalfe, Kay;
- Cuvertino, Sara;
- Clayton, Peter E;
- Yarwood, Rebecca;
- Lowe, Martin P;
- Lovell, Simon;
- Rogers, Richard C;
- Study, Deciphering Developmental Disorders;
- Kampen, Antoine H C van;
- Ruiter, Jos P N
Publication type:
journal article
Treatable mitochondrial diseases: cofactor metabolism and beyond.
Published in:
2017
By:
- Distelmaier, Felix;
- Haack, Tobias B.;
- Wortmann, Saskia B.;
- Mayr, Johannes A.;
- Prokisch, Holger
Publication type:
Letter
CAD mutations and uridine-responsive epileptic encephalopathy.
Published in:
2017
By:
- Koch, Johannes;
- Mayr, Johannes A.;
- Alhaddad, Bader;
- Rauscher, Christian;
- Bierau, Jörgen;
- Kovacs-Nagy, Reka;
- Coene, Karlien L. M.;
- Bader, Ingrid;
- Holzhacker, Monika;
- Prokisch, Holger;
- Venselaar, Hanka;
- Wevers, Ron A.;
- Distelmaier, Felix;
- Polster, Tilman;
- Leiz, Steffen;
- Betzler, Cornelia;
- Strom, Tim M.;
- Sperl, Wolfgang;
- Meitinger, Thomas;
- Wortmann, Saskia B.
Publication type:
journal article
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3328, doi. 10.1210/clinem/dgac528
By:
- Tucker, Elena J.;
- Baker, Megan J.;
- Hock, Daniella H.;
- Warren, Julia T.;
- Jaillard, Sylvie;
- Bell, Katrina M.;
- Sreenivasan, Rajini;
- Bakhshalizadeh, Shabnam;
- Hanna, Chloe A.;
- Caruana, Nikeisha J.;
- Wortmann, Saskia B.;
- Rahman, Shamima;
- Pitceathly, Robert D. S.;
- Donadieu, Jean;
- Alimi, Aurelia;
- Launay, Vincent;
- Coppo, Paul;
- Christin-Maitre, Sophie;
- Robevska, Gorjana;
- van den Bergen, Jocelyn
Publication type:
Article
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.
Published in:
Metabolites (2218-1989), 2023, v. 13, n. 11, p. 1141, doi. 10.3390/metabo13111141
By:
- 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.
Publication type:
Article
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Published in:
Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/7202589
By:
- Feichtinger, René G.;
- Brunner-Krainz, Michaela;
- Alhaddad, Bader;
- Wortmann, Saskia B.;
- Kovacs-Nagy, Reka;
- Stojakovic, Tatjana;
- Erwa, Wolfgang;
- Resch, Bernhard;
- Windischhofer, Werner;
- Verheyen, Sarah;
- Uhrig, Sabine;
- Windpassinger, Christian;
- Locker, Felix;
- Makowski, Christine;
- Strom, Tim M.;
- Meitinger, Thomas;
- Prokisch, Holger;
- Sperl, Wolfgang;
- Haack, Tobias B.;
- Mayr, Johannes A.
Publication type:
Article
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00873-3
By:
- Yap, Zheng Yie;
- Park, Yo Han;
- Wortmann, Saskia B.;
- Gunning, Adam C.;
- Ezer, Shlomit;
- Lee, Sukyeong;
- Duraine, Lita;
- Wilichowski, Ekkehard;
- Wilson, Kate;
- Mayr, Johannes A.;
- Wagner, Matias;
- Li, Hong;
- Kini, Usha;
- Black, Emily Davis;
- Monaghan, Kristin G.;
- Lupski, James R.;
- Ellard, Sian;
- Westphal, Dominik S.;
- Harel, Tamar;
- Yoon, Wan Hee
Publication type:
Article
Perinatal and early infantile symptoms in congenital disorders of glycosylation.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 578, doi. 10.1002/ajmg.a.35702
By:
- Funke, Simone;
- Gardeitchik, Thatjana;
- Kouwenberg, Dorus;
- Mohamed, Miski;
- Wortmann, Saskia B.;
- Korsch, Eckhard;
- Adamowicz, Maciej;
- Al‐Gazali, Lihadh;
- Wevers, Ron A.;
- Horvath, Adrienne;
- Lefeber, Dirk J.;
- Morava, Éva
Publication type:
Article
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Published in:
Nature Genetics, 2012, v. 44, n. 7, p. 797, doi. 10.1038/ng.2325
By:
- Wortmann, Saskia B;
- Vaz, Frédéric M;
- Gardeitchik, Thatjana;
- Vissers, Lisenka E L M;
- Renkema, G Herma;
- Schuurs-Hoeijmakers, Janneke H M;
- Kulik, Wim;
- Lammens, Martin;
- Christin, Christin;
- Kluijtmans, Leo A J;
- Rodenburg, Richard J;
- Nijtmans, Leo G J;
- Grünewald, Anne;
- Klein, Christine;
- Gerhold, Joachim M;
- Kozicz, Tamas;
- van Hasselt, Peter M;
- Harakalova, Magdalena;
- Kloosterman, Wigard;
- Bari?, Ivo
Publication type:
Article
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Published in:
2018
By:
- Lotz-Havla, Amelie S.;
- Röschinger, Wulf;
- Schiergens, Katharina;
- Singer, Katharina;
- Karall, Daniela;
- Konstantopoulou, Vassiliki;
- Wortmann, Saskia B.;
- Maier, Esther M.
Publication type:
journal article
Investigating the role of ASCC1 in the causation of bone fragility.
Published in:
Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1137573
By:
- Voraberger, Barbara;
- Mayr, Johannes A.;
- Fratzl-Zelman, Nadja;
- Blouin, Stéphane;
- Uday, Suma;
- Kopajtich, Robert;
- Koedam, Marijke;
- Hödlmayr, Helena;
- Wortmann, Saskia B.;
- Csillag, Bernhard;
- Prokisch, Holger;
- van der Eerden, Bram C. J.;
- El-Gazzar, Ahmed;
- Högler, Wolfgang
Publication type:
Article
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 2, p. 202, doi. 10.1038/ejhg.2014.80
By:
- Renkema, G Herma;
- Wortmann, Saskia B;
- Smeets, Roel J;
- Venselaar, Hanka;
- Antoine, Marion;
- Visser, Gepke;
- Ben-Omran, Tawfeg;
- van den Heuvel, Lambert P;
- Timmers, Henri J L M;
- Smeitink, Jan A;
- Rodenburg, Richard J T
Publication type:
Article
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 4, p. 394, doi. 10.1038/ejhg.2010.214
By:
- Smits, Paulien;
- Saada, Ann;
- Wortmann, Saskia B.;
- Heister, Angelien J.;
- Brink, Maaike;
- Pfundt, Rolph;
- Miller, Chaya;
- Haas, Dorothea;
- Hantschmann, Ralph;
- Rodenburg, Richard J. T.;
- Smeitink, Jan A. M.;
- van den Heuvel, Lambert P.
Publication type:
Article
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 2, p. 138, doi. 10.1038/ejhg.2010.171
By:
- Kleefstra, Tjitske;
- Wortmann, Saskia B;
- Rodenburg, Richard J. T.;
- Bongers, Ernie M. H. F.;
- Hadzsiev, Kinga;
- Noordam, Cees;
- Van den Heuvel, Lambert P.;
- Nillesen, Willy M.;
- Hollody, Katalin;
- Gillessen-Kaesbach, Gabrielle;
- Lammens, Martin;
- Smeitink, Jan A. M.;
- Van der Burgt, Ineke;
- Morava, Eva
Publication type:
Article
Mitochondrial Disease and Hearing Loss in Children: A Systematic Review.
Published in:
Laryngoscope, 2022, v. 132, n. 12, p. 2459, doi. 10.1002/lary.30067
By:
- Roesch, Sebastian;
- O’Sullivan, Anna;
- Zimmermann, Georg;
- Mair, Alois;
- Lipuš, Cvetka;
- Mayr, Johannes A.;
- Wortmann, Saskia B.;
- Rasp, Gerd
Publication type:
Article
Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study.
Published in:
Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 3, p. 252, doi. 10.1002/jmd2.12364
By:
- Grünert, Sarah C.;
- Venema, Annieke;
- LaFreniere, Jamas;
- Schneider, Blair;
- Contreras, Enrique;
- Wortmann, Saskia B.;
- Derks, Terry G. J.
Publication type:
Article
Ketogenic diet for treating alopecia in BCS1l‐related mitochondrial disease (Bjornstad syndrome).
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 10, doi. 10.1002/jmd2.12109
By:
- Della Marina, Adela;
- Leiendecker, Baerbel;
- Roesch, Sebastian;
- Wortmann, Saskia B.
Publication type:
Article
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.
Published in:
Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-01927-w
By:
- Zweers, Heidi;
- van Wegberg, Annemiek M. J.;
- Janssen, Mirian C. H.;
- Wortmann, Saskia B.
Publication type:
Article
Correction to: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.
Published in:
2021
By:
- Zweers, Heidi;
- van Wegberg, Annemiek M. J.;
- Janssen, Mirian C. H.;
- Wortmann, Saskia B.
Publication type:
Journal Article
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.
Published in:
2021
By:
- 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
Publication type:
journal article
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.
Published in:
2021
By:
- Zweers, Heidi;
- van Wegberg, Annemiek M. J.;
- Janssen, Mirian C. H.;
- Wortmann, Saskia B.
Publication type:
journal article
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 1, p. 136, doi. 10.1093/brain/awn296
By:
- Saskia B. Wortmann;
- Richard J. T. Rodenburg;
- An Jonckheere;
- Maaike C. de Vries;
- Marjan Huizing;
- Katrin Heldt;
- Lambert P. van den Heuvel;
- Udo Wendel;
- Leo A. Kluijtmans;
- Udo F. Engelke;
- Ron A. Wevers;
- Jan A. M. Smeitink;
- Eva Morava
Publication type:
Article
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 968, doi. 10.1002/acn3.768
By:
- 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
Publication type:
Article
A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease.
Published in:
Frontiers in Neurology, 2023, v. 13, p. 1, doi. 10.3389/fneur.2022.1063733
By:
- Astner-Rohracher, Alexandra;
- Mauritz, Matthias;
- Leitinger, Markus;
- Rossini, Fabio;
- Kalss, Gudrun;
- Neuray, Caroline;
- Retter, Elisabeth;
- Wortmann, Saskia B.;
- Achleitner, Melanie T.;
- Mayr, Johannes A.;
- Trinka, Eugen
Publication type:
Article
History of Repeated Bleeding from Intact Skin and Mucous Membranes: A Quiz.
Published in:
2021
By:
- WORTMANN, Saskia B.;
- WELPONER, Tobias;
- LAIMER, Martin
Publication type:
Case Study
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Published in:
Clinical Genetics, 2020, v. 97, n. 4, p. 556, doi. 10.1111/cge.13706
By:
- Panneman, Daan M.;
- Wortmann, Saskia B.;
- Haaxma, Charlotte A.;
- Hasselt, Peter M.;
- Wolf, Nicole I.;
- Hendriks, Yvonne;
- Küsters, Benno;
- Emst‐de Vries, Sjenet;
- Westerlo, Els;
- Koopman, Werner J.H.;
- Wintjes, Liesbeth;
- Brandt, Frans;
- Vries, Maaike;
- Lefeber, Dirk J.;
- Smeitink, Jan A.M.;
- Rodenburg, Richard J.
Publication type:
Article
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.
Published in:
2021
By:
- Hoytema van Konijnenburg, Eva M. M.;
- Wortmann, Saskia B.;
- Koelewijn, Marina J.;
- Tseng, Laura A.;
- Houben, Roderick;
- Stöckler-Ipsiroglu, Sylvia;
- Ferreira, Carlos R.;
- van Karnebeek, Clara D. M.
Publication type:
journal article
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.
Published in:
2020
By:
- Grünert, Sarah C.;
- Elling, Roland;
- Maag, Bärbel;
- Wortmann, Saskia B.;
- Derks, Terry G. J.;
- Hannibal, Luciana;
- Schumann, Anke;
- Rosenbaum-Fabian, Stefanie;
- Spiekerkoetter, Ute
Publication type:
journal article
KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Published in:
Annals of Neurology, 2023, v. 94, n. 2, p. 332, doi. 10.1002/ana.26662
By:
- Cioclu, Maria Cristina;
- Mosca, Ilaria;
- Ambrosino, Paolo;
- Puzo, Deborah;
- Bayat, Allan;
- Wortmann, Saskia B.;
- Koch, Johannes;
- Strehlow, Vincent;
- Shirai, Kentaro;
- Matsumoto, Naomichi;
- Sanders, Stephan J.;
- Michaud, Vincent;
- Legendre, Marine;
- Riva, Antonella;
- Striano, Pasquale;
- Muhle, Hiltrud;
- Pendziwiat, Manuela;
- Lesca, Gaetan;
- Mangano, Giuseppe Donato;
- Nardello, Rosaria
Publication type:
Article
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Published in:
2021
By:
- Schänzer, Anne;
- Achleitner, Melanie T.;
- Trümbach, Dietrich;
- Hubert, Laurence;
- Munnich, Arnold;
- Ahlemeyer, Barbara;
- AlAbdulrahim, Maha M.;
- Greif, Philipp A.;
- Vosberg, Sebastian;
- Hummer, Blake;
- Feichtinger, René G.;
- Mayr, Johannes A.;
- Wortmann, Saskia B.;
- Aichner, Heidi;
- Rudnik‐Schöneborn, Sabine;
- Ruiz, Anna;
- Gabau, Elisabeth;
- Sánchez, Jacobo Pérez;
- Ellard, Sian;
- Homfray, Tessa
Publication type:
journal article
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
Published in:
Journal of Neurology, 2024, v. 271, n. 2, p. 835, doi. 10.1007/s00415-023-12017-1
By:
- Mancuso, Michelangelo;
- Lopriore, Piervito;
- Lamperti, Costanza;
- Klopstock, Thomas;
- Rahman, Shamima;
- Licchetta, Laura;
- Kornblum, Cornelia;
- Wortmann, Saskia B.;
- Dollfus, Hélène;
- Papadopoulou, Maria T.;
- Arzimanoglou, Alexis;
- Scarpa, Maurizio;
- Graessner, Holm;
- Evangelista, Teresinha
Publication type:
Article
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Published in:
Journal of Neurology, 2023, v. 270, n. 2, p. 909, doi. 10.1007/s00415-022-11440-0
By:
- Krenn, Martin;
- Sener, Merve;
- Rath, Jakob;
- Zulehner, Gudrun;
- Keritam, Omar;
- Wagner, Matias;
- Laccone, Franco;
- Iglseder, Stephan;
- Marte, Sonja;
- Baumgartner, Manuela;
- Eisenkölbl, Astrid;
- Liechtenstein, Christian;
- Rudnik, Sabine;
- Quasthoff, Stefan;
- Grinzinger, Susanne;
- Spenger, Johannes;
- Wortmann, Saskia B.;
- Löscher, Wolfgang N.;
- Zimprich, Fritz;
- Kellersmann, Anna
Publication type:
Article
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 244, doi. 10.1002/jimd.12714
By:
- Derks, Terry G. J.;
- Venema, Annieke;
- Köller, Clara;
- Bos, Eline;
- Overduin, Ruben J.;
- Stolwijk, Nina N.;
- Hofbauer, Peter;
- Bolhuis, Mathieu S.;
- van Eenennaam, Fred;
- Groen, Henk;
- Hollak, Carla E. M.;
- Wortmann, Saskia B.
Publication type:
Article
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1170, doi. 10.1002/jimd.12667
By:
- del Caño‐Ochoa, Francisco;
- Ng, Bobby G.;
- Rubio‐del‐Campo, Antonio;
- Mahajan, Sonal;
- Wilson, Matthew P.;
- Vilar, Marçal;
- Rymen, Daisy;
- Sánchez‐Pintos, Paula;
- Kenny, Joanna;
- Ley Martos, Myriam;
- Campos, Teresa;
- Wortmann, Saskia B.;
- Freeze, Hudson H.;
- Ramón‐Maiques, Santiago
Publication type:
Article
MOGS‐CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub>Man tetrasaccharide and clinical spectrum of six new cases.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 313, doi. 10.1002/jimd.12588
By:
- Post, Merel A.;
- de Wit, Isis;
- Zijlstra, Fokje S. M.;
- Engelke, Udo F. H.;
- van Rooij, Arno;
- Christodoulou, John;
- Tan, Tiong Yang;
- Le Fevre, Anna;
- Jin, Danqun;
- Yaplito‐Lee, Joy;
- Lee, Beom Hee;
- Low, Karen J.;
- Mallick, Andrew A.;
- Õunap, Katrin;
- Pitt, James;
- Reardon, William;
- Vals, Mari‐Anne;
- Wortmann, Saskia B.;
- Wessels, Hans J. C. T.;
- Bärenfänger, Melissa
Publication type:
Article
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
By:
- Wortmann, Saskia B.;
- Oud, Machteld M.;
- Alders, Mariëlle;
- Coene, Karlien L. M.;
- van der Crabben, Saskia N.;
- Feichtinger, René G.;
- Garanto, Alejandro;
- Hoischen, Alex;
- Langeveld, Mirjam;
- Lefeber, Dirk;
- Mayr, Johannes A.;
- Ockeloen, Charlotte W.;
- Prokisch, Holger;
- Rodenburg, Richard;
- Waterham, Hans R.;
- Wevers, Ron A.;
- van de Warrenburg, Bart P. C.;
- Willemsen, Michel A. A. P.;
- Wolf, Nicole I.;
- Vissers, Lisenka E. L. M.
Publication type:
Article
Congenital disorders of glycosylation with defective fucosylation.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1441, doi. 10.1002/jimd.12426
By:
- Hüllen, Andreas;
- Falkenstein, Kristina;
- Weigel, Corina;
- Huidekoper, Hidde;
- Naumann‐Bartsch, Nora;
- Spenger, Johannes;
- Feichtinger, René G.;
- Schaefers, Jacqueline;
- Frenz, Stephanie;
- Kotlarz, Daniel;
- Momen, Tooba;
- Khoshnevisan, Razieh;
- Riedhammer, Korbinian M.;
- Santer, René;
- Herget, Theresia;
- Rennings, Alexander;
- Lefeber, Dirk J.;
- Mayr, Johannes A.;
- Thiel, Christian;
- Wortmann, Saskia B.
Publication type:
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Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.
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Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 438, doi. 10.1002/jimd.12072
By:
- Stence, Nicholas V.;
- Fenton, Laura Z.;
- Levek, Claire;
- Tong, Suhong;
- Coughlin, Curtis R.;
- Hennermann, Julia B.;
- Wortmann, Saskia B.;
- Van Hove, Johan L.K.
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Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 909, doi. 10.1002/jimd.12109
By:
- Wagner, Matias;
- Berutti, Riccardo;
- Lorenz‐Depiereux, Bettina;
- Graf, Elisabeth;
- Eckstein, Gertrud;
- Mayr, Johannes A.;
- Meitinger, Thomas;
- Ahting, Uwe;
- Prokisch, Holger;
- Strom, Tim M.;
- Wortmann, Saskia B.
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Choline‐related‐inherited metabolic diseases—A mini review.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 237, doi. 10.1002/jimd.12011
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- Wortmann, Saskia B.;
- Mayr, Johannes A.
Publication type:
Article
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 337, doi. 10.1007/s10545-017-0131-6
By:
- Coene, Karlien L. M.;
- Kluijtmans, Leo A. J.;
- van der Heeft, Ed;
- Engelke, Udo F. H.;
- de Boer, Siebolt;
- Hoegen, Brechtje;
- Kwast, Hanneke J. T.;
- van de Vorst, Maartje;
- Huigen, Marleen C. D. G.;
- Keularts, Irene M. L. W.;
- Schreuder, Michiel F.;
- van Karnebeek, Clara D. M.;
- Wortmann, Saskia B.;
- de Vries, Maaike C.;
- Janssen, Mirian C. H.;
- Gilissen, Christian;
- Engel, Jasper;
- Wevers, Ron A.
Publication type:
Article
“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 525, doi. 10.1007/s10545-017-0133-4
By:
- Kremer, Laura S.;
- Wortmann, Saskia B.;
- Prokisch, Holger
Publication type:
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The role of the clinician in the multi-omics era: are you ready?
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 571, doi. 10.1007/s10545-017-0128-1
By:
- van Karnebeek, Clara D. M.;
- Wortmann, Saskia B.;
- Tarailo-Graovac, Maja;
- Langeveld, Mirjam;
- Ferreira, Carlos R.;
- van de Kamp, Jiddeke M.;
- Hollak, Carla E.;
- Wasserman, Wyeth W.;
- Waterham, Hans R.;
- Wevers, Ron A.;
- Haack, Tobias B.;
- Wanders, Ronald J.A.;
- Boycott, Kym M.
Publication type:
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The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 4, p. 949, doi. 10.1093/hmg/ddt490
By:
- Smith, Paul M.;
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- Greaves, Laura C.;
- Wortmann, Saskia B.;
- Rodenburg, Richard J.T.;
- Lightowlers, Robert N.;
- Chrzanowska-Lightowlers, Zofia M.A.;
- Taylor, Robert W.;
- Vila-Sanjurjo, Antón
Publication type:
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The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.
Published in:
International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 40, doi. 10.3390/ijns10020040
By:
- Knöpfli, Stella;
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- Baumgartner-Kaut, Margot;
- Baumgartner, Matthias R.;
- Herle, Marion;
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- Poms, Martin;
- Wortmann, Saskia B.;
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Article

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