Detalhe da pesquisa
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.
Artigo
Inglês
| MEDLINE | ID: mdl-32145091
2.
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Hum Mol Genet
; 27(17): 3029-3045, 2018 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29878199
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.
Artigo
Inglês
| 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.
Artigo
Inglês
| MEDLINE | ID: mdl-26833332
5.
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
Hum Mutat
; 38(12): 1786-1795, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28905505
6.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
N Engl J Med
; 370(6): 533-42, 2014 Feb 06.
Artigo
Inglês
| MEDLINE | ID: mdl-24499211
7.
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.
Mol Genet Metab
; 120(3): 243-246, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27986404
8.
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Brain
; 137(Pt 4): 1030-8, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24566669
9.
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Hum Mol Genet
; 21(19): 4151-61, 2012 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22492991
10.
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Nat Commun
; 9(1): 4065, 2018 10 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30283131
11.
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Nat Commun
; 7: 11600, 2016 05 27.
Artigo
Inglês
| MEDLINE | ID: mdl-27231034
12.
Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.
Mol Genet Metab
; 90(1): 10-4, 2007 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-16996290