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  1. No Access

    Article

    Coenzyme Q10 is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria

    The content of coenzyme Q10 (CoQ10) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabol...

    D. Haas, P. Niklowitz, F. Hörster… in Journal of Inherited Metabolic Disease (2009)

  2. No Access

    Article

    CASE REPORT: CblC/D defect combined with haemodynamically highly relevant VSD

    An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.

    M. Tomaske, A. Bosk, M. K. Heinemann… in Journal of Inherited Metabolic Disease (2001)

  3. No Access

    Article

    Transcobalamin II deficiency with methylmalonic aciduria in three sisters

    Transcobalamin II (TC II) is a plasma protein that binds vitamin B12 (cobalamin, Cbl) and facilitates cellular Cbl uptake by receptor-mediated endocytosis. In autosomal recessive TC II deficiency, intracellular C...

    H. Bibi, Z. Gelman-Kohan, E. R. Baumgartner… in Journal of Inherited Metabolic Disease (1999)

  4. No Access

    Article

    Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy

    A case of holocarboxylase synthetase (HCS) deficiency of late-infantile onset is presented and compared with the common manifestations in previously reported patients. Our patient had her first episode at 20 m...

    E. Touma, T. Suormala, E. R. Baumgartner… in Journal of Inherited Metabolic Disease (1999)

  5. No Access

    Article

    BiotinidaseK m-variants: detection and detailed biochemical investigations

    We describe a simple method for the detection of biotinidaseK m-variants and detailed biochemical investigations in 5 such patient. They were detected among 103 patients with plasma biotin...

    T. Suormala, V. T. Ramaekers, S. Schweitzer… in Journal of Inherited Metabolic Disease (1995)

  6. No Access

    Article

    Cerebrospinal fluid organic acids in biotinidase deficiency

    M. Duran, E. R. Baumgartner, T. M. Suormala… in Journal of Inherited Metabolic Disease (1993)

  7. No Access

    Article

    Comparison of patients with complete and partial biotinidase deficiency: Biochemical studies

    Seventeen partially biotinidase-deficient patients detected by neonatal screening or family studies were compared with four patients with classical biotinidase deficiency. Using a sensitive HPLC method for bio...

    T. M. Suormala, E. R. Baumgartner, H. Wick… in Journal of Inherited Metabolic Disease (1990)

  8. No Access

    Article

    Biotinidase deficiency: Factors responsible for the increased biotin requirement

    Inability to recycle biotin from endogenous biocytin in congenital biotinidase deficiency is associated with increased requirement of exogenous free biotin. We have observed that severe biotin depletion with c...

    E. R. Baumgartner, T. Suormala, H. Wick… in Journal of Inherited Metabolic Disease (1985)