Hereditary leiomyomatosis and renal cell cancer syndrome: A novel mutation in the FH gene
Published: J Dermatol. 2017 Jul 10. doi: 10.1111/1346-8138.13955.
Publications
The employees at the Medical Care Centre Dr. Eberhard & Partner Dortmund are directly involved in current medical developments through their work. Several of our academic employees are actively involved in medical research and collaborate in scientific studies from hospitals and universities. This commitment to science is expressed in medical publications. The following is a compilation of recent scientific publications.
Publications
of the last 10 yearsInappropriate Blood Transfusion in Neonatal Hemolytic Anemia Due to Anti-c
Published: Vol. 5, No. 3, 2017, pp 56-58. doi: 10.12691/ajmcr-5-3-3
Establishment of Clinical and Lab Algorithms for the Identification Carriers of Mutations in CYP21A2 A Study of 768 Children and Adolescents
Published: European Society for Paediatric Endocrinology, ESPE Abstracts (2016) 86 P-P1-13
Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis.
Published: JIMD Rep. 2015 Nov 26.
A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progressive neuropathy: a case report
Published: Journal of Medical Case Reports 2014, 8:403 (4 December 2014)