Genetic, biochemical and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after introduction of newborn screening in the Netherlands.
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
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Type
Article
Language
en
Date
2022-04-05
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Title
Genetic, biochemical and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after introduction of newborn screening in the Netherlands.
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Published in
Journal of inherited metabolic disease 2022; 45(4):804-818