Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Eleanor Stanley"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 345-349 (2014)
Dihydrolipoamide dehydrogenase deficiency, also known as maple syrup urine disease (MSUD) type III, is caused by the deficiency of the E3 subunit of branched chain alpha-ketoacid dehydrogenase (BCKDH), α-ketoglutarate dehydrogenase (αKGDH), and pyr
Externí odkaz:
https://doaj.org/article/0dc570eb1aeb4cedabc3147ac9638098
Publikováno v:
Protocol Exchange.
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 345-349 (2014)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Dihydrolipoamide dehydrogenase deficiency, also known as maple syrup urine disease (MSUD) type III, is caused by the deficiency of the E3 subunit of branched chain alpha-ketoacid dehydrogenase (BCKDH), α-ketoglutarate dehydrogenase (αKGDH), and pyr
Autor:
Joost P. Schanstra, Thomas Koeck, Esther Nkuipou-Kenfack, Eleanor Stanley, William Spooner, Harald Mischak, Walter Kolch, Eleni Ioanna Delatola
Publikováno v:
BMC Bioinformatics
BMC Bioinformatics, BioMed Central, 2016, 17 (1), pp.496. ⟨10.1186/s12859-016-1390-1⟩
BMC Bioinformatics, 2016, 17 (1), pp.496. ⟨10.1186/s12859-016-1390-1⟩
BMC Bioinformatics, BioMed Central, 2016, 17 (1), pp.496. ⟨10.1186/s12859-016-1390-1⟩
BMC Bioinformatics, 2016, 17 (1), pp.496. ⟨10.1186/s12859-016-1390-1⟩
Background When combined with a clinical outcome variable, the size, complexity and nature of mass-spectrometry proteomics data impose great statistical challenges in the discovery of potential disease-associated biomarkers. The purpose of this study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf79ef46c1c915f37b6f6cb4454febd6
https://www.hal.inserm.fr/inserm-01409597/file/12859_2016_Article_1390.pdf
https://www.hal.inserm.fr/inserm-01409597/file/12859_2016_Article_1390.pdf
Autor:
Nicole VanVleck, Harry Hawkins, Mary Seeterlin, Bonita Taffe, Eleanor Stanley, Barry Wolf, Kristin G. Monaghan
Publikováno v:
International Journal of Neonatal Screening
Volume 1
Issue 1
Pages 45-56
Volume 1
Issue 1
Pages 45-56
Background: Biotinidase deficiency is an inherited metabolic disorder that if untreated can result in neurological and cutaneous features. Profound biotinidase deficiency presents in early childhood with severe symptoms, whereas partial biotinidase d
Autor:
Joanna, Goodrich, Eleanor, Stanley
Publikováno v:
The Health service journal. 123(6391)
Publikováno v:
European journal of obstetrics, gynecology, and reproductive biology. 125(1)
Publikováno v:
European journal of obstetrics, gynecology, and reproductive biology. 124(1)
Objective To highlight the differences in mode of delivery between women augmented with intravenous oxytocin because of failure to progress in labour with those who labour without the need for augmentation. Study design An incidence study over a 5-ye
Publikováno v:
European Journal of Obstetrics & Gynecology and Reproductive Biology. 126:272-273
Publikováno v:
Journal of Obstetrics and Gynaecology. 23:S19-S20
We hypothesise that in labours induced for gastroschisis, fewer caesarean sections are performed than in labours induced for other indications at the same gestation. If labour does not occur spontaneously before 38 weeks in uncomplicated cases of gas