Zobrazeno 1 - 10
of 394
pro vyhledávání: '"Wilcken Bridget"'
Autor:
Grünert Sarah C, Stucki Martin, Morscher Raphael J, Suormala Terttu, Bürer Celine, Burda Patricie, Christensen Ernst, Ficicioglu Can, Herwig Jürgen, Kölker Stefan, Möslinger Dorothea, Pasquini Elisabetta, Santer René, Schwab K, Wilcken Bridget, Fowler Brian, Yue Wyatt W, Baumgartner Matthias R
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 31 (2012)
Abstract Background Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2 encoding the α and β subunit of MCC, respectively. The phenotype is highly
Externí odkaz:
https://doaj.org/article/62aed4cdba704719858f8efe906d9006
Autor:
Coffey, Michael J., Whitaker, Viola, Gentin, Natalie, Junek, Rosie, Shalhoub, Carolyn, Nightingale, Scott, Hilton, Jodi, Wiley, Veronica, Wilcken, Bridget, Gaskin, Kevin J., Ooi, Chee Y. *
Publikováno v:
In The Journal of Pediatrics February 2017 181:137-145
Autor:
Lain, Samantha J *, Bentley, Jason P, Wiley, Veronica, Roberts, Christine L, Jack, Michelle, Wilcken, Bridget, Nassar, Natasha
Publikováno v:
In The Lancet Diabetes & Endocrinology September 2016 4(9):756-765
Autor:
Wilcken, Bridget
Publikováno v:
Science, 2013 Oct 01. 342(6155), 197-198.
Externí odkaz:
http://dx.doi.org/10.1126/science.1243944
Autor:
Castellani, Carlo, Southern, Kevin W., Brownlee, Keith, Dankert Roelse, Jeannette, Duff, Alistair, Farrell, Michael, Mehta, Anil, Munck, Anne, Pollitt, Rodney, Sermet-Gaudelus, Isabelle, Wilcken, Bridget, Ballmann, Manfred, Corbetta, Carlo, de Monestrol, Isabelle, Farrell, Philip, Feilcke, Maria, Férec, Claude, Gartner, Silvia, Gaskin, Kevin, Hammermann, Jutta, Kashirskaya, Nataliya, Loeber, Gerard, Macek, Milan, Jr., Mehta, Gita, Reiman, Andreas, Rizzotti, Paolo, Sammon, Alec, Sands, Dorota, Smyth, Alan, Sommerburg, Olaf, Torresani, Toni, Travert, Georges, Vernooij, Annette, Elborn, Stuart
Publikováno v:
In Journal of Cystic Fibrosis 2009 8(3):153-173
Additional file 1. Contains additional results for readers wishing to read further. This includes study participants, supplemental dosage, dietary intakes, blood tyrosine values, percent expected body weight and results of psychological tests.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa46520280a2644fa4a9fb5b8db97b9d
Autor:
McKay, Karen, Wilcken, Bridget
Publikováno v:
In Paediatric Respiratory Reviews 2008 9(4):290-294
Autor:
Wilcken, Bridget, Haas, Marion, Joy, Pamela, Wiley, Veronica, Chaplin, Meredyth, Black, Carly, Fletcher, Janice, McGill, Jim, Boneh, Avihu
Publikováno v:
In The Lancet 2007 369(9555):37-42
Akademický článek
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Autor:
Christodoulou, John, Wilcken, Bridget
Publikováno v:
In Seminars in Neonatology 2004 9(4):275-280