1. "Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA‐sequencing. Issue 3 (25th January 2018) Authors: Kremer, Laura S.; Wortmann, Saskia B.; Prokisch, Holger Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 3(2018) Page Start: 525 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients. Issue 6 (25th January 2013) Authors: Wortmann, Saskia B.; Kluijtmans, Leo A. J.; Rodenburg, Richard J.; Sass, Jörn Oliver; Nouws, Jessica; van Kaauwen, Edwin P.; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; de Vries, Maaike C.; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S.; Smuts, Izelle; Reinecke, Carolus J.; van der Westhui... Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 6(2013) Page Start: 913 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases. Issue 12 (18th October 2013) Authors: Neveling, Kornelia; Feenstra, Ilse; Gilissen, Christian; Hoefsloot, Lies H.; Kamsteeg, Erik‐Jan; Mensenkamp, Arjen R.; Rodenburg, Richard J. T.; Yntema, Helger G.; Spruijt, Liesbeth; Vermeer, Sascha; Rinne, Tuula; van, Koen L.; Bodmer, Danielle; Lugtenberg, Dorien; de, Rick; Buijsman, Wendy; Derk... Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. Issue 6 (7th July 2017) Authors: Pronicka, Ewa; Ropacka‐Lesiak, Mariola; Trubicka, Joanna; Pajdowska, Magdalena; Linke, Markus; Ostergaard, Elsebet; Saunders, Carol; Horsch, Sandra; van Karnebeek, Clara; Yaplito‐Lee, Joy; Distelmaier, Felix; Õunap, Katrin; Rahman, Shamima; Castelle, Martin; Kelleher, John; Baris, Safa; Iwanicka‐... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 6(2017) Page Start: 853 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Austrian study shows that delays in accessing acute paediatric health care outweighed the risks of COVID‐19. (19th August 2020) Authors: Schaffert, Matthias; Zimmermann, Franz; Bauer, Leopold; Kastner, Simon; Schwarz, Astrid; Strenger, Volker; Metzger, Roman; Thun‐Hohenstein, Leonhard; Sperl, Wolfgang; Weghuber, Daniel; Wortmann, Saskia B. Journal: Acta pædiatrica Issue: Volume 109:Number 11(2020) Page Start: 2309 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. Issue 5 (11th April 2019) Authors: 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 Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 5(2019) Page Start: 968 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype. Issue 3 (20th March 2019) Authors: Stence, Nicholas V.; Fenton, Laura Z.; Levek, Claire; Tong, Suhong; Coughlin, Curtis R.; Hennermann, Julia B.; Wortmann, Saskia B.; Van Hove, Johan L.K. Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 3(2019) Page Start: 438 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Choline‐related‐inherited metabolic diseases—A mini review. Issue 2 (25th January 2019) Authors: Wortmann, Saskia B.; Mayr, Johannes A. Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 2(2019) Page Start: 237 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. Issue 5 (14th April 2015) Authors: Huemer, Martina; Karall, Daniela; Schossig, Anna; Abdenur, Jose E.; Al Jasmi, Fatma; Biagosch, Caroline; Distelmaier, Felix; Freisinger, Peter; Graham, Brett H.; Haack, Tobias B.; Hauser, Natalie; Hertecant, Jozef; Ebrahimi‐Fakhari, Darius; Konstantopoulou, Vassiliki; Leydiker, Karen; Lourenco, C... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 5(2015) Page Start: 905 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Issue 3 (12th January 2022) Authors: Scala, Marcello; Wortmann, Saskia B.; Kaya, Namik; Stellingwerff, Menno D.; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D.; Skrypnyk, Cristina; Iwanicka‐Pronicka, Katarzyna; Piekutowska‐Abramczuk, Dorota; Ciara, Elżbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Par... Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗