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Author/Creator Ruiter, Jos P. N.

1. 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. Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study. Issue 5 (17th July 2019)

Authors:
van Rijt, Willemijn J.; Ferdinandusse, Sacha; Giannopoulos, Panagiotis; Ruiter, Jos P. N.; de Boer, Lonneke; Bosch, Annet M.; Huidekoper, Hidde H.; Rubio‐Gozalbo, M. Estela; Visser, Gepke; Williams, Monique; Wanders, Ronald J. A.; Derks, Terry G. J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 5(2019)
Page Start:
878
Record Type:
Journal Article
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4. Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy. Issue 4 (5th May 2022)

Authors:
Schwantje, Marit; Ebberink, Merel S.; Doolaard, Mirjam; Ruiter, Jos P. N.; Fuchs, Sabine A.; Darin, Niklas; Hedberg‐Oldfors, Carola; Régal, Luc; Donker Kaat, Laura; Huidekoper, Hidde H.; Olpin, Simon; Cole, Duncan; Moat, Stuart J.; Visser, Gepke; Ferdinandusse, Sacha
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 4(2022)
Page Start:
819
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗