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You searched for: Author/Creator Roelofsen, Jeroen

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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)

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)

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)

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)

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