A new mutation in COG7 extends the spectrum of COG subunit deficiencies

Autor: Zeevaert, Renate ^a, Foulquier, François ^{b, c}, Cheillan, David ^d, Cloix, Isabelle ^e, Guffon, Nathalie ^d, Sturiale, Luisella ^f, Garozzo, Domenico ^f, Matthijs, Gert ^c, Jaeken, Jaak ^{a, ∗}

Publikováno v: In European Journal of Medical Genetics 2009 52(5):303-305

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides.

Autor: Xuefang Pan, De Britto Pará De Aragão, Camila, Velasco-Martin, Juan P., Priestman, David A., Wu, Harry Y., Kohta Takahashi, Kazunori Yamaguchi, Sturiale, Luisella, Garozzo, Domenico, Platt, Frances M., Lamarche-Vane, Nathalie, Morales, Carlos R., Taeko Miyagi, Pshezhetsky, Alexey V.

Publikováno v: FASEB Journal; Aug2017, Vol. 31 Issue 8, p3467-3483, 17p

An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia.

Autor: Calvo PL; Pediatric Gastroenterology Unit, Department of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Piazza Polonia 94, Torino, 10126, Italy. pcalvo@cittadellasalute.to.it., Spada M; Department of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy., Rabbone I; Department of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy., Pinon M; Pediatric Gastroenterology Unit, Department of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Piazza Polonia 94, Torino, 10126, Italy., Porta F; Department of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy., Cisarò F; Pediatric Gastroenterology Unit, Department of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Piazza Polonia 94, Torino, 10126, Italy., Reggiani S; Pediatric Gastroenterology Unit, Department of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Piazza Polonia 94, Torino, 10126, Italy., Cefalù AB; Department of Biomedicine, Internal Medicine and Medical Specialties (DIBIMIS), University of Palermo, Palermo, Italy., Sturiale L; CNR Institute for Polymers Composites and Biomaterials, Catania, Italy., Garozzo D; CNR Institute for Polymers Composites and Biomaterials, Catania, Italy., Lefeber DJ; Translational Metabolic Laboratory, Department of Neurology, Radboudumc, Nijmegen, The Netherlands., Jaeken J; Department of Development and Regeneration, Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.

Publikováno v: JIMD reports [JIMD Rep] 2018; Vol. 38, pp. 97-100. Date of Electronic Publication: 2017 Jun 23.