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Author/Creator Duran, Marinus

2. 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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Available online (eLD content is only available in our Reading Rooms) ↗

3. Inborn errors of metabolism with 3‐methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. Issue 6 (8th January 2013)

Authors:
Wortmann, Saskia B.; Duran, Marinus; Anikster, Yair; Barth, Peter G.; Sperl, Wolfgang; Zschocke, Johannes; Morava, Eva; Wevers, Ron A.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 6(2013)
Page Start:
923
Record Type:
Journal Article
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4. Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. Issue 6 (25th May 2017)

Authors:
Huijmans, Jan G. M.; Schot, Rachel; de Klerk, Johannis B. C.; Williams, Monique; de Coo, René F. M.; Duran, Marinus; Verheijen, Frans W.; van Slegtenhorst, Marjon; Mancini, Grazia M. S.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 6(2017)
Page Start:
1601
Record Type:
Journal Article
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5. Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. Issue 6 (June 2017)

Authors:
Huijmans, Jan G. M.; Schot, Rachel; de Klerk, Johannis B. C.; Williams, Monique; de Coo, René F. M.; Duran, Marinus; Verheijen, Frans W.; van Slegtenhorst, Marjon; Mancini, Grazia M. S.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 6(2017)
Page Start:
1601
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. S‐adenosylmethionine and S‐adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation. Issue 6 (8th February 2013)

Authors:
Hagebeuk, Eveline E. O.; Duran, Marinus; Abeling, Nico G. G. M.; Vyth, Arno; Poll‐The, Bwee Tien
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 6(2013)
Page Start:
967
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗