Angeborene Skeletterkrankungen

Angeborene Skeletterkrankungen Angeborene Skeletterkrankungen sind selten, haben aber großen Einfluss auf die Entwicklung der Betroffenen und erfordern eine multidisziplinäre medizinische Versorgung. Unterschieden werden Erkrankungen, bei denen die Produktion der Knochenmatrix gestört ist (z. B. Osteogenesis imperfecta), und Erkrankungen mit gestörter Mineralisation. Bei Letzteren sind diejenigen mit Substratmangel (z. B. Rachitis) von jenen mit Enzymmangel (z. B. Hypophosphatasie) abzugrenzen. Bei der Diagnostik der Synthesestörungen stehen klinische Aspekte und bildgebende Verfahren im Vordergrund; für die Mineralisierungsstörung ist die Laboruntersuchung wegweisend. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Monatsschrift Kinderheilkunde Springer Journals

Angeborene Skeletterkrankungen

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Publisher
Springer Medizin
Copyright
Copyright © 2017 by Springer Medizin Verlag GmbH
Subject
Medicine & Public Health; Pediatrics; General Practice / Family Medicine
ISSN
0026-9298
eISSN
1433-0474
D.O.I.
10.1007/s00112-017-0321-1
Publisher site
See Article on Publisher Site

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