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1.
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
Hepatology
; 72(6): 1968-1986, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32145091
2.
Screening for abnormal glycosylation in a cohort of adult liver disease patients.
J Inherit Metab Dis
; 43(6): 1310-1320, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32557671
3.
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Am J Hum Genet
; 98(2): 322-30, 2016 Feb 04.
Article
in English
| MEDLINE | ID: mdl-26833330
4.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Am J Hum Genet
; 98(2): 310-21, 2016 Feb 04.
Article
in English
| MEDLINE | ID: mdl-26833332
5.
Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.
Cell Mol Gastroenterol Hepatol
; 13(2): 583-597, 2022.
Article
in English
| MEDLINE | ID: mdl-34626841
6.
[Acute upper abdominal pain after excessive vomiting: Boerhaave's syndrome]. / Acute pijn in de bovenbuik na veelvuldig braken: Het Boerhaave-syndroom.
Ned Tijdschr Geneeskd
; 157(35): A6374, 2013.
Article
in Dutch
| MEDLINE | ID: mdl-23985243
7.
NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects.
Cell Mol Gastroenterol Hepatol
; 5(3): 415-417.e1, 2018 Mar.
Article
in English
| MEDLINE | ID: mdl-29675453
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