Search

Author/Creator Roelofsen, Jeroen

1. Children with atopic dermatitis show increased activity of β‐glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu. (1st June 2022)

Authors:
Kezic, Sanja; McAleer, Maeve A.; Jakasa, Ivone; Goorden, Susan M.I.; der Vlugt, Karen Ghauharali‐van; Beers‐Stet, Femke S.; Meijer, Judith; Roelofsen, Jeroen; Nieman, Monique M.; van Kuilenburg, André B.P.; Irvine, Alan D.
Journal:
British journal of dermatology
Issue:
Volume 186:Number 6(2022)
Page Start:
988
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Children with atopic dermatitis show increased activity of β‐glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu. (5th April 2022)

Authors:
Kezic, Sanja; McAleer, Maeve A.; Jakasa, Ivone; Goorden, Susan M.I.; der Vlugt, Karen Ghauharali‐van; Beers‐Stet, Femke S.; Meijer, Judith; Roelofsen, Jeroen; Nieman, Monique M.; van Kuilenburg, André B.P.; Irvine, Alan D.
Journal:
British journal of dermatology
Issue:
Volume 186:Number 6(2022)
Page Start:
988
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Clinical, biochemical and molecular analysis of 13 Japanese patients with β‐ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation. Issue 5 (14th February 2014)

Authors:
Nakajima, Yoko; Meijer, Judith; Dobritzsch, Doreen; Ito, Tetsuya; Meinsma, Rutger; Abeling, Nico G. G. M.; Roelofsen, Jeroen; Zoetekouw, Lida; Watanabe, Yoriko; Tashiro, Kyoko; Lee, Tomoko; Takeshima, Yasuhiro; Mitsubuchi, Hiroshi; Yoneyama, Akira; Ohta, Kazuhide; Eto, Kaoru; Saito, Kayoko; Kuhar...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 5(2014)
Page Start:
801
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β‐ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation. Issue 6 (12th August 2014)

Authors:
Nakajima, Yoko; Meijer, Judith; Dobritzsch, Doreen; Ito, Tetsuya; Meinsma, Rutger; Abeling, Nico G. G. M.; Roelofsen, Jeroen; Zoetekouw, Lida; Watanabe, Yoriko; Tashiro, Kyoko; Lee, Tomoko; Takeshima, Yasuhiro; Mitsubuchi, Hiroshi; Yoneyama, Akira; Ohta, Kazuhide; Eto, Kaoru; Saito, Kayoko; Kuhar...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 6(2014)
Page Start:
1023
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies. Issue 10 (25th July 2017)

Authors:
Porrmann, Joseph; Betcheva‐Krajcir, Elitza; Di Donato, Nataliya; Kahlert, Anne‐Karin; Schallner, Jens; Rump, Andreas; Schröck, Evelin; Dobritzsch, Doreen; Roelofsen, Jeroen; van Kuilenburg, André B. P.; Tzschach, Andreas
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 10(2017)
Page Start:
2736
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗