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Author/Creator Sass, Jörn Oliver

1. 3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism. Issue 6 (5th July 2021)

Authors:
Meyer, Melanie; Hollenbeck, Jana C.; Reunert, Janine; Seelhöfer, Anja; Rust, Stephan; Fobker, Manfred; Biskup, Saskia; Och, Ulrike; Linden, Mechthild; Sass, Jörn Oliver; Marquardt, Thorsten
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 6(2021)
Page Start:
1323
Record Type:
Journal Article
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2. 3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method. Issue 3 (7th March 2022)

Authors:
Sasarman, Florin; Ferdinandusse, Sacha; Sinasac, David S.; Fung, Ernest; Sparkes, Rebecca; Reeves, Melanie; Rombough, Catherine; Sass, Jörn Oliver; Voit, Renate; Ruiter, Jos P. N.; Koster, Janet; Waterham, Hans R.; Pasquini, Elisabetta; Donati, Maria A.; Marquardt, Thorsten; Wanders, Ronald J. A....
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 3(2022)
Page Start:
445
Record Type:
Journal Article
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3. 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
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4. A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation. Issue 2 (24th January 2018)

Authors:
Mayr, Simon Julius; Sass, Jörn Oliver; Vry, Julia; Kirschner, Janbernd; Mader, Irina; Hövener, Jan‐Bernd; Reiss, Jochen; Santamaria‐Araujo, José Angel; Schwarz, Günter; Grünert, Sarah Catharina
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 2(2018)
Page Start:
187
Record Type:
Journal Article
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7. Genetic basis of alpha‐aminoadipic and alpha‐ketoadipic aciduria. Issue 5 (10th April 2015)

Authors:
Hagen, Jacob; te Brinke, Heleen; Wanders, Ronald J. A.; Knegt, Alida C.; Oussoren, Esmee; Hoogeboom, A. Jeannette M.; Ruijter, George J. G.; Becker, Daniel; Schwab, Karl Otfried; Franke, Ingo; Duran, Marinus; Waterham, Hans R.; Sass, Jörn Oliver; Houten, Sander M.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 5(2015)
Page Start:
873
Record Type:
Journal Article
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8. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. Issue 3 (9th March 2021)

Authors:
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;...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 3(2021)
Page Start:
566
Record Type:
Journal Article
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9. HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. Issue 12 (23rd September 2014)

Authors:
Reuter, Miriam S.; Sass, Jörn Oliver; Leis, Thomas; Köhler, Julia; Mayr, Johannes A.; Feichtinger, René G.; Rauh, Manfred; Schanze, Ina; Bähr, Luzy; Trollmann, Regina; Uebe, Steffen; Ekici, Arif B.; Reis, André
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 12(2014.)
Page Start:
3162
Record Type:
Journal Article
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