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within Doreen Dobritzsch Remove this filter Biochemistry, general Remove this filter Human Genetics Remove this filter Metabolic Diseases Remove this filter

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  1. Article

    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

    Yoko Nakajima, Judith Meijer, Doreen Dobritzsch… in Journal of Inherited Metabolic Disease (2014)

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  2. Article

    Open Access

    Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

    β-ureidopropionase (βUP) deficiency is an autosomal recessive disease characterized by N-carbamyl-β-amino aciduria. To date, only 16 genetically confirmed patients with βUP deficiency have been reported. Here,...

    Yoko Nakajima, Judith Meijer, Doreen Dobritzsch… in Journal of Inherited Metabolic Disease (2014)

    Download PDF (2955 KB) View Article