Peter Freisinger
AuthID: R-00F-NQV
1
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
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
Scopus WOS2
TITLE: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
AUTHORS: Rene G Feichtinger; Bettina E Mucha; Holger Hengel; Zakaria Orfi; Christine Makowski; Junio Dort; Guy D'Anjou; Nguyen, TTM; Rebecca Buchert; Hendrik Juenger; Peter Freisinger; Sarah Baumeister; Benedikt Schoser; Uwe Ahting; Reinhard Keimer; Cam Tu Emilie Nguyen; Paul Fabre; Julie Gauthier; Marguerite Miguet; Fatima Lopes; ...More
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 11
AUTHORS: Rene G Feichtinger; Bettina E Mucha; Holger Hengel; Zakaria Orfi; Christine Makowski; Junio Dort; Guy D'Anjou; Nguyen, TTM; Rebecca Buchert; Hendrik Juenger; Peter Freisinger; Sarah Baumeister; Benedikt Schoser; Uwe Ahting; Reinhard Keimer; Cam Tu Emilie Nguyen; Paul Fabre; Julie Gauthier; Marguerite Miguet; Fatima Lopes; ...More
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 11
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
AUTHORS: Maria A Rujano; Magda Cannata Serio; Ganna Panasyuk; Romain Anne n e P; Janine Reunert; Daisy Rymen; Virginie Hauser; Julien H Park; Peter Freisinger; Erika Souche; Maria Clara Guida; Esther M Maier; Yoshinao Wada; Stefanie Jager; Nevan J Krogan; Oliver Kretz; Susana Nobre; Paula Garcia; Dulce Quelhas; Thomas D Bird; ...More
PUBLISHED: 2017, SOURCE: JOURNAL OF EXPERIMENTAL MEDICINE, VOLUME: 214, ISSUE: 12
AUTHORS: Maria A Rujano; Magda Cannata Serio; Ganna Panasyuk; Romain Anne n e P; Janine Reunert; Daisy Rymen; Virginie Hauser; Julien H Park; Peter Freisinger; Erika Souche; Maria Clara Guida; Esther M Maier; Yoshinao Wada; Stefanie Jager; Nevan J Krogan; Oliver Kretz; Susana Nobre; Paula Garcia; Dulce Quelhas; Thomas D Bird; ...More
PUBLISHED: 2017, SOURCE: JOURNAL OF EXPERIMENTAL MEDICINE, VOLUME: 214, ISSUE: 12
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: Impact of age at onset and newborn screening on outcome in organic acidurias Full Text
AUTHORS: Jana Heringer; Vassili Valayannopoulos; Allan M Lund; Frits A Wijburg; Peter Freisinger; Ivo Baric; Matthias R Baumgartner; Peter Burgard; Alberto B Burlina; Kimberly A Chapman; Elisenda C I Cortes I Saladelafont; Daniela Karall; Chris Muehlhausen; Victoria Riches; Manuel Schiff; Jolanta Sykut Cegielska; John H Walter; Jiri Zeman; Brigitte Chabrol; Stefan Koelker;
PUBLISHED: 2016, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, ISSUE: 3
AUTHORS: Jana Heringer; Vassili Valayannopoulos; Allan M Lund; Frits A Wijburg; Peter Freisinger; Ivo Baric; Matthias R Baumgartner; Peter Burgard; Alberto B Burlina; Kimberly A Chapman; Elisenda C I Cortes I Saladelafont; Daniela Karall; Chris Muehlhausen; Victoria Riches; Manuel Schiff; Jolanta Sykut Cegielska; John H Walter; Jiri Zeman; Brigitte Chabrol; Stefan Koelker;
PUBLISHED: 2016, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, ISSUE: 3
INDEXED IN: WOS 
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