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Monogene frühmanifeste Osteoporose und Altersosteoporose – ein Kontinuum
The risk of atraumatic/osteoporotic fractures increases from the age of 55 years onwards and is largely determined by the individual bone mineral...
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Hypophosphatasie – eine klinisch und genetisch variable Erkrankung
Hypophosphatasia (HPP) is a hereditary metabolic multisystemic disease whose main clinical characteristics are mineralization disorders of bones and...
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Hereditäre hypophosphatämische Rachitis
Hereditary hypophosphatemic rickets (HR) is a genetically and clinically heterogenous group of conditions caused by renal phosphate wasting and...
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Osteogenesis imperfecta – Pathophysiologie und aktuelle Behandlungsstrategien
Osteogenesis imperfecta (OI) is a hereditary disease of the bones and fascia. It is associated with an increased tendency to fracture, deformities of...
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Epidermolysis bullosa hereditaria
Inherited Epidermolysis bullosa (EB) encompasses a group of heritable skin disorders characterized by skin fragility and mechanically induced blister...
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Präimplantationsdiagnostik für monogene Erkrankungen am PID-Zentrum Regensburg
Here we report on the results of 316 diagnostic cycles of preimplantation genetic diagnosis (PGD) at our PGD center for 149 families at high risk of...
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Personwürde in der pränatalen Ethik
The background to this article comprises the bioethical debates of recent years, in which questions on the type and extent of prenatal protection of...
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Diagnostik genetisch bedingter Epilepsien
Depending on the seizure semiology and electroencephalography (EEG) findings, epilepsies are usually clinically divided into focal or generalized...
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Diagnostik seltener Erkrankungen mit „next generation sequencing“ – angekommen oder abgewehrt?
In genetic diagnostics, the path goes from single-gene testing to gene-panel analyses, especially for rare genetic diseases. In July 2016, an...
