K. Bartholomé - Concepedia

Author

K. Bartholomé

Also Known As

K BARTHOLOME, K BARTHOLOMÉ, K Bartholome, K Bartholomé, K. BARTHOLOMÉ, K. Bartholome, K. Bartholomé, Klaus Bartholomé, Klaus Bartholomé

Publications

1.3K

Citations

H-Index

Concepts

All Affiliations

Heidelberg University University Hospital Heidelberg Universitätskinderklinik University of Münster National Institute of Mental Health

About

K. Bartholomé is an author at Heidelberg University specializing in medicine, pharmacology, and metabolism.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	11	579
2	Biochemistry	5	5	275
3	Health Sciences	1	1	24
4	Natural Sciences	1	1	72
5	Biology	1	1	72

K. Bartholomé

Publications

Citations

H-Index

Page 1

	Year	Citations
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene P.M. Knappskog, Torgeir Flatmark, Jacques Mallet, Human Molecular Genetics	1995	200
Malignant hyperphenylalaninaemia—Current status (June 1977) D. M. Danks, K. Bartholomé, B. E. Clayton, Journal of Inherited Metabolic Disease MedicineAdrenal DiseasePathologyMalignant Hyperphenylalaninaemia—current Status	1978	107
Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia K. Bartholomé, Peter Lutz, Horst Bickel Pediatric Research BiochemistryPhenylalanine Hydroxylase ActivityMedicineInherited Metabolic DiseasePharmacology	1975	103
Atypical Phenylketonuria With Normal Phenylalanine Hydroxylase and Dihydropteridine Reductase Activity in Vitro K. Bartholomé, D. J. Byrd, Seymour Kaufman, PEDIATRICS	1977	80
Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe Bernd Dworniczak, C. Aulehla‐Scholz, Luba Kalaydjieva, Genomics Aberrant SplicingGeneticsMolecular BiologyPathologySouthern Europe	1991	73
Where does cat allergen 1 come from? K. Bartholomé, W. Kissler, Harold Baer, Journal of Allergy and Clinical Immunology BiologyBiochemical TaxonomyNatural SciencesAllergenGenetic Mechanism	1985	72
Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis. J. Schaub, S. Däumling, H.‐Ch. Curtius, Archives of Disease in Childhood Mg Bh4Atypical PhenylketonuriaBiosynthesisBiochemistryMedicine	1978	65
L-DOPA AND 5-HYDROXYTRYPTOPHAN THERAPY IN PHENYLKETONURIA WITH NORMAL PHENYLALANINE-HYDROXYLASE ACTIVITY K. Bartholomé, D. J. Byrd The Lancet Chronic Kidney DiseasePharmacologyMedicineBiochemistry	1975	53
Neopterin and Biopterin Levels in Patients with Atypical Forms of Phenylketonuria J. C. Nixon, Ching‐Lun Lee, Sheldon Milstien, Journal of Neurochemistry	1980	51
Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria Bernd Dworniczak, Klaus Grudda, Judith Stümper, Genomics Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseBiochemical Genetics	1991	44

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