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TMEM199 Deficiency is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

PORTA, FRANCESCO;CALVO, PIER LUIGI;
2016-01-01
2016
98
2
322
330
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#description
alkaline phosphatase; Congenital Disorders of Glycosylation; COPI vesicular transport; elevated aminotransferases; Golgi homeostasis; hypercholesterolemia; TMEM199 deficiency; V-ATPase assembly; Vph2p; Adult; Alkaline Phosphatase; Amino Acid Sequence; Ceruloplasmin; Cholesterol; Endoplasmic Reticulum; Exome; Fibroblasts; Genotype; Glycosylation; Golgi Apparatus; Humans; Male; Membrane Proteins; Molecular Sequence Data; Mutation; Phenotype; Transaminases; Young Adult; Homeostasis; Genetics; Genetics (clinical)
Jansen, Jos C.; Timal, Sharita; Van Scherpenzeel, Monique; Michelakakis, Helen; Vicogne, Dorothée; Ashikov, Angel; Moraitou, Marina; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; Van Den Boogert, Marjolein A.W.; Porta, Francesco; Calvo, Pier Luigi; Mavrikou, Mersyni; Cenacchi, Giovanna; Van Den Bogaart, Geert; Salomon, Jody; Holleboom, Adriaan G.; Rodenburg, Richard J.; Drenth, Joost P.H.; Huynen, Martijn A.; Wevers, Ron A.; Morava, Eva; Foulquier, François; Veltman, Joris A.; Lefeber, Dirk J.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1630293
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