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LEFEBER DJ
Collezione AOU Città della Salute di Torino

Items : 3

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. in Brain : a journal of neurology / Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299.

2022
AOU Città della Salute di Torino

Galosi S; Edani BH; Martinelli S; Hansikova H; Eklund EA; Caputi C; Masuelli L; Corsten-Janssen N; Srour M; Oegema R; Bosch DGM; Ellis CA; Amlie-Wolf L; Accogli A; Atallah I; Averdunk L; Barañano KW; Bei R; Bagnasco I; Brusco A; Demarest S; Alaix AS; Di Bonaventura C; Distelmaier F; Elmslie F; Gan-Or Z; Good JM; Gripp K; Kamsteeg EJ; et alii...

An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia. in JIMD reports / JIMD Rep. 2018;38:97-100. doi: 10.1007/8904_2017_35. Epub 2017 Jun 23.

2018
AOU Città della Salute di Torino

Sturiale L; Garozzo D; Lefeber DJ; Cefalù AB; Reggiani S; Cisarò F; Porta F; Pinon M; Rabbone I; Spada M; Calvo PL; Jaeken J;

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. in American journal of human genetics / Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28.

2016
AOU Città della Salute di Torino

Jansen JC; Timal S; van Scherpenzeel M; Michelakakis H; Vicogne D; Ashikov A; Moraitou M; Hoischen A; Huijben K; Steenbergen G; van den Boogert MA; Porta F; Calvo PL; Mavrikou M; Cenacchi G; van den Bogaart G; Salomon J; Holleboom AG; Rodenburg RJ; Drenth JP; Huynen MA; Wevers RA; Morava E; Foulquier F; Veltman JA; Lefeber DJ;