Zobrazeno 1 - 10
of 148
pro vyhledávání: '"Lethal skeletal dysplasia"'
Publikováno v:
Balkan Journal of Medical Genetics, Vol 22, Iss 1, Pp 89-94 (2019)
Achondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as Achondrogenesis type 1A (Houston-Harris type or AC-G1A), Achondrogenesis type 1B
Externí odkaz:
https://doaj.org/article/4db3395b582d439595e7e37491d17a49
Autor:
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 55-63 (2017)
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-g
Externí odkaz:
https://doaj.org/article/d1627cb3e24a413c97327ac4fe3dbc0c
Autor:
Liangcheng Wang, Yasushi Takai, Kazunori Baba, Yukiko Mikami, Masahiro Saito, Isao Horiuchi, Ryo Konno, Kenjiro Takagi, Hiroyuki Seki
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 56, Iss 3, Pp 374-378 (2017)
Objective: The aim of the study was to determine whether the biparietal diameter/femur length (BPD/FL) ratio can be used to detect thanatophoric dysplasia in the first trimester of pregnancy. Materials and Methods: Twenty-four reported cases of thana
Externí odkaz:
https://doaj.org/article/f334a35bc2bc42319faf1a5b2a3f613f
Publikováno v:
Asian Pacific Journal of Reproduction, Vol 6, Iss 5, Pp 238-240 (2017)
Achondrogenesis is a very rare lethal skeletal disorder. Here we describe a case of prenatally diagnosed achondrogenesis type II in a 28 year-old woman at (17+4) wk. She had history of 5 first trimester missed abortions. The couple is consanguineous.
Externí odkaz:
https://doaj.org/article/0a87437c3ad145d69c9c19e55c0ed1d6
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Balkan Journal of Medical Genetics, Vol 22, Iss 1, Pp 89-94 (2019)
Achondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as Achondrogenesis type 1A (Houston-Harris type or AC-G1A), Achondrogenesis type 1B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::191774e0e07ef91d7b7ade8b8c82b41f
https://doi.org/10.2478/bjmg-2019-0001
https://doi.org/10.2478/bjmg-2019-0001
Publikováno v:
NeoReviews. 22(12)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06bfde1efd5933b894ecd57b424e6c6a
https://pubmed.ncbi.nlm.nih.gov/34850149
https://pubmed.ncbi.nlm.nih.gov/34850149
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Xing Chang Wei, David S. Sinasac, Kellie Davis, Duncan Webster, Patrick Ferreira, Yolanda Foster, Miao He, Julian P. Midgley, Walla Al-Hertani, Xueli Li, Sheryl Jackson, L.E. Seargeant, Christopher Smith
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 55-63 (2017)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f81557d000d25bfa6db9114563d50c3
https://doi.org/10.1016/j.ymgmr.2017.08.004
https://doi.org/10.1016/j.ymgmr.2017.08.004