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Author/Creator van Spronsen, Francjan

2. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. (5th June 2018)

Authors:
Ashikov, Angel; Abu Bakar, Nurulamin; Wen, Xiao-Yan; Niemeijer, Marco; Rodrigues Pinto Osorio, Glentino; Brand-Arzamendi, Koroboshka; Hasadsri, Linda; Hansikova, Hana; Raymond, Kimiyo; Vicogne, Dorothée; Ondruskova, Nina; Simon, Marleen E H; Pfundt, Rolph; Timal, Sharita; Beumers, Roel; Biot, Chr...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 17(2018:Sep. 01)
Page Start:
3029
Record Type:
Journal Article
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3. Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls. Issue 1 (December 2016)

Authors:
van Ginkel, Willem; Jahja, Rianne; Huijbregts, Stephan; Daly, Anne; MacDonald, Anita; De Laet, Corinne; Cassiman, David; Eyskens, François; Körver-Keularts, Irene; Goyens, Philippe; McKiernan, Patrick; van Spronsen, Francjan
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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4. Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?. Issue 3 (22nd December 2019)

Authors:
Haijes, Hanneke A.; Molema, Femke; Langeveld, Mirjam; Janssen, Mirian C.; Bosch, Annet M.; van Spronsen, Francjan; Mulder, Margot F.; Verhoeven‐Duif, Nanda M.; Jans, Judith J.M.; van der Ploeg, Ans T.; Wagenmakers, Margreet A.; Rubio‐Gozalbo, M. Estela; Brouwers, Martijn C. G. J.; de Vries, Maaik...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 3(2020)
Page Start:
424
Record Type:
Journal Article
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5. The potential role of gut microbiota and its modulators in the management of propionic and methylmalonic acidemia. (2nd November 2018)

Authors:
Burlina, Alberto; Tims, Sebastian; van Spronsen, Francjan; Sperl, Wolfgang; Burlina, Alessandro P.; Kuhn, Mirjam; Knol, Jan; Rakhshandehroo, Maryam; Coşkun, Turgay; Singh, Rani H; MacDonald, Anita
Journal:
Expert opinion on orphan drugs
Issue:
Volume 6:Number 11(2018)
Page Start:
683
Record Type:
Journal Article
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6. Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases. Issue 5 (1st May 2014)

Authors:
Feillet, François; Muntau, Ania C.; Debray, François‐Guillaume; Lotz‐Havla, Amelie S.; Puchwein‐Schwepcke, Alexandra; Fofou‐Caillierez, Ma'atem Béatrice; van Spronsen, Francjan; Trefz, Fritz Friedrich
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 5(2014)
Page Start:
753
Record Type:
Journal Article
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