A new variant of Ehlers-Danlos syndrome with inborn errors of mucopolysaccharide metabolism in the mother and son

dc.contributor.authorBugaeva, Olena
dc.contributor.authorGrechanina, Elena
dc.contributor.authorGrechanina, Juliya
dc.date.accessioned2014-11-17T08:46:01Z
dc.date.available2014-11-17T08:46:01Z
dc.date.issued2014
dc.descriptionA new variant of Ehlers-Danlos syndrome has been diagnosed in the mother and son with the phenotype associated with metabolism errors of mucopolysaccharides, hypermobility of joints, hepatosplenomegaly, an early common varicose disease, muscular hypotonia due to lower activity of MTHFR G1793A/MTRR A66G enzymes.uk_UA
dc.description.abstractConnective tissue dysplasias are characterized by the clinical polymorphism and genetic heterogeneity. Each new patient with Ehlers - Danlos syndrome, according to our observations is potentially a new variant of the syndrome.uk_UA
dc.identifier.citationBugaeva E. V. A new variant of Ehlers-Danlos syndrome with inborn errors of mucopolysaccharide metabolism in the mother and son / E. V. Bugaeva, E. Y. Grechanina, Y. B. Grechanina // European Journal of Human Genetics. – 2014. – Vol. 25, suppl. 1 : European Human Genetics Conference, Milan, May 31 – June 3, 2014 : abstracts. – P. 500.uk_UA
dc.identifier.urihttps://repo.knmu.edu.ua/handle/123456789/7624
dc.language.isoenuk_UA
dc.subjectEhlers-Danlos syndromeuk_UA
dc.subjectmucopolysaccharide metabolismuk_UA
dc.titleA new variant of Ehlers-Danlos syndrome with inborn errors of mucopolysaccharide metabolism in the mother and sonuk_UA
dc.typeThesisuk_UA

Files

Original bundle

Now showing 1 - 3 of 3
Loading...
Thumbnail Image
Name:
Обкладинка.pdf
Size:
250.59 KB
Format:
Adobe Portable Document Format
Description:
Обкладинка
Loading...
Thumbnail Image
Name:
Тези(10).pdf
Size:
290.29 KB
Format:
Adobe Portable Document Format
Description:
Саме тези
Loading...
Thumbnail Image
Name:
Тези(11).pdf
Size:
24.89 MB
Format:
Adobe Portable Document Format
Description:
Саме тези

License bundle

Now showing 1 - 1 of 1
Loading...
Thumbnail Image
Name:
license.txt
Size:
6.52 KB
Format:
Item-specific license agreed upon to submission
Description: