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TITLE: Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation  Full Text
AUTHORS: Claire Cannet; Andrea Pilotto; Julio Cesar Rocha ; Hartmut Schaefer; Manfred Spraul; Daniela Berg; Peter Nawroth; Christian Kasperk; Gwendolyn Gramer; Dorothea Haas; David Piel; Stefan Koelker; Georg Hoffmann; Peter Freisinger; Friedrich Trefz;
PUBLISHED: 2020, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Clinical presentation and outcome in a series of 88 patients with the cblC defect  Full Text
AUTHORS: Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Guelden Goekcay; Stephanie Gruenewald; Johannes Haeberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins ; Karl O Schwab; Sarah C Gruenert; Bernd C Schwahn; Laszlo Sztriha; Maren Tomaske; Friedrich Trefz; Laura Vilarinho; David S Rosenblatt; Brian Fowler; Carlo Dionisi Vici; ...More
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
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TITLE: Is overweight an issue in phenylketonuria?  Full Text
AUTHORS: Julio C Rocha ; Anita MacDonald; Friedrich Trefz;
PUBLISHED: 2013, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 110, ISSUE: SUPPL.
INDEXED IN: Scopus WOS CrossRef: 43