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Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation.
Cylwik B, Lipartowska K, Chrostek L, Gruszewska E. Cylwik B, et al. Acta Biochim Pol. 2013;60(3):361-8. Epub 2013 Sep 19. Acta Biochim Pol. 2013. PMID: 24051442 Review.
We review 8 of the following diseases linked to defects in the synthesis of O-xylosylglycans, O-N acetylgalactosaminylglycans, O-xylosyl/N-acetylglycans, O-mannosylglycans, and O-fucosylglycans: multiple exostoses, progeroid variant of Ehlers-Danlos syndrome, progeria, familial t …
We review 8 of the following diseases linked to defects in the synthesis of O-xylosylglycans, O-N acetylgalactosaminylglycans, O-xylosyl/N-a …
Metatropic dysplasia lethal variants.
Hall CM, Elçioglu NH. Hall CM, et al. Pediatr Radiol. 2004 Jan;34(1):66-74. doi: 10.1007/s00247-003-1063-x. Epub 2003 Oct 18. Pediatr Radiol. 2004. PMID: 14566438
BACKGROUND: The metatropic dysplasia group includes fibrochondrogenesis, Schneckenbecken dysplasia and metatropic dysplasia (various forms). The overlapping features of this group with other dysplasias may cause diagnostic confusion, particularly in perinatal lethal …
BACKGROUND: The metatropic dysplasia group includes fibrochondrogenesis, Schneckenbecken dysplasia and metatropic dysplasia (v …
Case report 693: Schneckenbecken dysplasia.
Giedion A, Biedermann K, Briner J, Soler R, Spycher M. Giedion A, et al. Skeletal Radiol. 1991;20(7):534-8. doi: 10.1007/BF00194254. Skeletal Radiol. 1991. PMID: 1754916
Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia.
Varkey JJ, Jones RA. Varkey JJ, et al. Ultrasound Obstet Gynecol. 2004 Oct;24(5):575-7. doi: 10.1002/uog.1115. Ultrasound Obstet Gynecol. 2004. PMID: 15386610 Free article.
The clinical, radiographical and histological features are described for a case of Schneckenbecken dysplasia, presenting antenatally with increased nuchal thickness and severe skeletal dysplasia. ...
The clinical, radiographical and histological features are described for a case of Schneckenbecken dysplasia, presenting anten …