K. Bartholomé

Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

P.M. Knappskog, Torgeir Flatmark, Jacques Mallet et al. · Human Molecular Genetics · 1995 · 200 citations

Malignant hyperphenylalaninaemia—Current status (June 1977)

D. M. Danks, K. Bartholomé, B. E. Clayton et al. · Journal of Inherited Metabolic Disease · 1978 · 107 citations

Medicine, Adrenal Disease, Pathology +1

Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

K. Bartholomé, Peter Lutz, Horst Bickel · Pediatric Research · 1975 · 103 citations · Full text

Biochemistry, Phenylalanine Hydroxylase Activity, Medicine +5

Atypical Phenylketonuria With Normal Phenylalanine Hydroxylase and Dihydropteridine Reductase Activity in Vitro

K. Bartholomé, D. J. Byrd, Seymour Kaufman et al. · PEDIATRICS · 1977 · 80 citations

Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe

Bernd Dworniczak, C. Aulehla‐Scholz, Luba Kalaydjieva et al. · Genomics · 1991 · 73 citations

Aberrant Splicing, Genetics, Molecular Biology +4