Klaus Gempel
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Klaus Gempel has a total of 9 co-authors. Here are the top co-authors by number of shared publications:
Bruno Casetta
P.E. Biosystems, Via Tiepolo, 24, 20052 Monza, Italy
1 shared publicationCaroline von Praun
Department of Paediatrics, Technical University, Munich
1 shared publicationJochen Baumkötter
Department of Paediatrics, Technical University, Munich
1 shared publicationKlaus-Dieter Gerbitz
Institute for Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Kölner Platz 1, 80804 Munich
1 shared publication- Klaus-Dieter Gerbitz
Institut für Klinische Chemie, Molekulare Diagnostik und Mitochondriale Genetik, Academic Hospital München-Schwabing, Kölner Platz 1, 80804 Munich, Germany
1 shared publication Matthias F Bauer
Institut für Klinische Chemie, Molekulare Diagnostik und Mitochondriale Genetik, Academic Hospital München-Schwabing, Kölner Platz 1, 80804 Munich, Germany
1 shared publication
Latest Publications
- 26 July 2001
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 160 (9) , 548-551
"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child
We describe a 6-year-old girl admitted with acute muscular weakness and pain which made her unable to walk. Her parents reported a 4-year history of similar episodes which occurred once or twice a year and always resolved spontaneously. Laboratory investigations showed elevated serum creatine kinase which peaked at day 2 of the attack with 18,600 U/l. Carnitine palmitoyltransferase-II deficiency was suspected based on the determination of serum acylcarnitines by tandem mass spectrometry which showed a characteristic elevation of long-chain C16 and C18:1 acylcarnitines. The diagnosis was confirmed by impaired in-vitro palmitate oxidation in blood and the detection of a homozygous substitution S113L in the carnitine palmitoyltransferase-II gene. Conclusion: Carnitine palmitoyltransferase-II deficiency should be included in the differential diagnosis of isolated muscular weakness even when manifesting in early childhood.
- 26 July 2001
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 160 (9) , 548-551
"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child
We describe a 6-year-old girl admitted with acute muscular weakness and pain which made her unable to walk. Her parents reported a 4-year history of similar episodes which occurred once or twice a year and always resolved spontaneously. Laboratory investigations showed elevated serum creatine kinase which peaked at day 2 of the attack with 18,600 U/l. Carnitine palmitoyltransferase-II deficiency was suspected based on the determination of serum acylcarnitines by tandem mass spectrometry which showed a characteristic elevation of long-chain C16 and C18:1 acylcarnitines. The diagnosis was confirmed by impaired in-vitro palmitate oxidation in blood and the detection of a homozygous substitution S113L in the carnitine palmitoyltransferase-II gene. Conclusion: Carnitine palmitoyltransferase-II deficiency should be included in the differential diagnosis of isolated muscular weakness even when manifesting in early childhood.
- Open Access
- 1 January 2000
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 46 (1) , 122-123
Rapid Determination of Total Homocysteine in Blood Spots by Liquid Chromatography-Electrospray Ionization-Tandem Mass Spectrometry
The determination of total homocysteine (tHcy) plays an important role in diagnosis and therapy of folate and cobalamin (vitamin B12) deficiencies. In addition, it is now widely accepted that increased tHcy is an independent risk factor for thromboembolism and cardiovascular disease, including coronary occlusive disease ( 1)( 2)( 3).
- 1 January 2000
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 46 (1) , 122-123
Open AccessRapid Determination of Total Homocysteine in Blood Spots by Liquid Chromatography-Electrospray Ionization-Tandem Mass Spectrometry
The determination of total homocysteine (tHcy) plays an important role in diagnosis and therapy of folate and cobalamin (vitamin B12) deficiencies. In addition, it is now widely accepted that increased tHcy is an independent risk factor for thromboembolism and cardiovascular disease, including coronary occlusive disease ( 1)( 2)( 3).