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Author/Creator Wijburg, Frits

1. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands. Issue 4 (19th April 2022)

Authors:
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.; W...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 4(2022)
Page Start:
804
Record Type:
Journal Article
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2. High dose genistein in Sanfilippo syndrome: A randomised controlled trial. Issue 5 (13th June 2021)

Authors:
Ghosh, Arunabha; Rust, Stewart; Langford‐Smith, Kia; Weisberg, Daniel; Canal, Maria; Breen, Catherine; Hepburn, Michelle; Tylee, Karen; Vaz, Frédéric M.; Vail, Andy; Wijburg, Frits; O'Leary, Claire; Parker, Helen; Wraith, J. Ed; Bigger, Brian W.; Jones, Simon A.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 5(2021)
Page Start:
1248
Record Type:
Journal Article
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4. Understanding the Early Presentation of Mucopolysaccharidoses Disorders: Results of a Systematic Literature Review and Physician Survey. (21st December 2018)

Authors:
Clarke, Lorne; Ellaway, Carolyn; Foster, Helen E.; Giugliani, Roberto; Goizet, Cyril; Goring, Sarah; Hawley, Sara; Jurecki, Elaina; Khan, Zaeem; Lampe, Christina; Martin, Ken; McMullen, Suzanne; Mitchell, John J.; Mubarack, Fathima; Sivri, H. Serap; Solano Villarreal, Martha; Stewart, Fiona J.; T...
Journal:
Journal of inborn errors of metabolism and screening
Issue:
Volume 6(2018)
Page Start:
Record Type:
Journal Article
View Content:
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