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Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03024-0
By:
- Schwantje, Marit;
- Grünert, Sarah C.;
- Fuchs, Sabine A.
Publication type:
Article
Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.
Published in:
Journal of Inherited Metabolic Disease Reports, 2019, v. 48, n. 1, p. 11, doi. 10.1002/jmd2.12040
By:
- Schwantje, Marit;
- de Sain-van der Velden, Monique;
- Jans, Judith;
- van Gassen, Koen;
- Dorrepaal, Charlotte;
- Koop, Klaas;
- Visser, Gepke
Publication type:
Article
Tracer‐based lipidomics enables the discovery of disease‐specific candidate biomarkers in mitochondrial β‐oxidation disorders.
Published in:
FASEB Journal, 2024, v. 38, n. 4, p. 1, doi. 10.1096/fj.202302163R
By:
- Schwantje, Marit;
- Mosegaard, Signe;
- Knottnerus, Suzan J. G.;
- van Klinken, Jan Bert;
- Wanders, Ronald J.;
- van Lenthe, Henk;
- Hermans, Jill;
- IJlst, Lodewijk;
- Denis, Simone W.;
- Jaspers, Yorrick R. J.;
- Fuchs, Sabine A.;
- Houtkooper, Riekelt H.;
- Ferdinandusse, Sacha;
- Vaz, Frédéric M.
Publication type:
Article
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 819, doi. 10.1002/jimd.12503
By:
- 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
Publication type:
Article
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 804, doi. 10.1002/jimd.12502
By:
- Schwantje, Marit;
- Fuchs, Sabine A.;
- de Boer, Lonneke;
- Bosch, Annet M.;
- Cuppen, Inge;
- Dekkers, Eugenie;
- Derks, Terry G. J.;
- Ferdinandusse, Sacha;
- Ijlst, Lodewijk;
- Houtkooper, Riekelt H.;
- Maase, Rose;
- van der Pol, W. Ludo;
- de Vries, Maaike C.;
- Verschoof‐Puite, Rendelien K.;
- Wanders, Ronald J. A.;
- Williams, Monique;
- Wijburg, Frits;
- Visser, Gepke
Publication type:
Article
Glucose transporter type 1 deficiency syndrome and the ketogenic diet.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 216, doi. 10.1002/jimd.12175
By:
- Schwantje, Marit;
- Verhagen, Lilly M.;
- Hasselt, Peter M.;
- Fuchs, Sabine A.
Publication type:
Article

Found: 6

Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey.

Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.

Tracer‐based lipidomics enables the discovery of disease‐specific candidate biomarkers in mitochondrial β‐oxidation disorders.

Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.

Glucose transporter type 1 deficiency syndrome and the ketogenic diet.