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Ernst Christensen
Researcher at Copenhagen University Hospital
Publications - 148
Citations - 7198
Ernst Christensen is an academic researcher from Copenhagen University Hospital. The author has contributed to research in topics: Glutaryl-CoA dehydrogenase & Glutaric aciduria. The author has an hindex of 47, co-authored 148 publications receiving 6777 citations. Previous affiliations of Ernst Christensen include University of Copenhagen & Rigshospitalet.
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Journal ArticleDOI
Less collagen production in smokers
TL;DR: The synthesis of subcutaneous collagen in smokers is specifically impeded, indicating an impaired wound-healing process, and the view that patients should be advised to stop smoking before an operation is supported.
Journal ArticleDOI
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Stefan Kölker,Ernst Christensen,James V. Leonard,Cheryl R. Greenberg,Avihu Boneh,Alberto Burlina,Alessandro P. Burlina,Marjorie Dixon,Marinus Duran,Angels Garcia Cazorla,Stephen I. Goodman,David M. Koeller,Mårten Kyllerman,Chris Mühlhausen,E. Müller,Jürgen G. Okun,Bridget Wilcken,Georg F. Hoffmann,Peter Burgard +18 more
TL;DR: The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline.
Journal ArticleDOI
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
A. B. P. Van Kuilenburg,Peter Vreken,N. G. G. M. Abeling,Henk D. Bakker,Rutger Meinsma,H. van Lenthe,R.A. de Abreu,Jan A.M. Smeitink,Hülya Kayserili,Memnune Yüksel Apak,Ernst Christensen,I. Holopainen,Kari Pulkki,Daria Riva,G. Botteon,Elisabeth Holme,Mar Tulinius,W. J. Kleijer,Frits A. Beemer,M. Duran,K. E. Niezen-Koning,Gerrit Smit,Cornelis Jakobs,L. M. E. Smit,A. H. van Gennip +24 more
TL;DR: Analysis of the prevalence of the various mutations among DPD patients has shown that the G→A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed.
Journal ArticleDOI
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Stefan Kölker,Sven F. Garbade,Cheryl R. Greenberg,James V. Leonard,Jean-Marie Saudubray,Antonia Ribes,H. Serap Kalkanoğlu,Allan M. Lund,Begoña Merinero,Moacir Wajner,Monica Troncoso,Monique Williams,John H. Walter,Jaume Campistol,Milagros Martí-Herrero,Melissa Caswill,A. B. Burlina,Florian B. Lagler,Esther M. Maier,Bernd Schwahn,Ayşegül Tokatlı,Ali Dursun,Turgay Coşkun,Ronald A. Chalmers,David M. Koeller,Johannes Zschocke,Ernst Christensen,Peter Burgard,Georg F. Hoffmann +28 more
TL;DR: It is demonstrated that timely diagnosis in neurologically asymptomatic patients followed by treatment with l-carnitine and a lysine-restricted diet was the best predictor of good outcome, whereas treatment efficacy was low in patients diagnosed after the onset of neurologic disease.
Journal ArticleDOI
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
Philippa B. Mills,Emma Footitt,Kevin Mills,Karin Tuschl,Sarah E. Aylett,Sophia Varadkar,Cheryl Hemingway,Neil Marlow,Janet M. Rennie,Peter Baxter,Olivier Dulac,Rima Nabbout,William J. Craigen,Bernhard Schmitt,François Feillet,Ernst Christensen,Pascale de Lonlay,Mike Pike,M Imelda Hughes,Eduard A. Struys,Cornelis Jakobs,Sameer M. Zuberi,Peter E. Clayton +22 more
TL;DR: The findings support the use of biochemical and DNA tests for antiquitin deficiency and a clinical trial of pyridoxine in infants and children with epilepsy across a broad range of clinical scenarios.