Search details
1.
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell
; 142(2): 203-17, 2010 Jul 23.
Article
in English
| MEDLINE | ID: mdl-20637498
2.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
N Engl J Med
; 370(6): 533-42, 2014 Feb 06.
Article
in English
| MEDLINE | ID: mdl-24499211
3.
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Hum Mol Genet
; 21(19): 4151-61, 2012 Oct 01.
Article
in English
| MEDLINE | ID: mdl-22492991
4.
Perinatal and early infantile symptoms in congenital disorders of glycosylation.
Am J Med Genet A
; 161A(3): 578-84, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23401092
5.
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Hum Mol Genet
; 18(12): 2149-65, 2009 Jun 15.
Article
in English
| MEDLINE | ID: mdl-19321599
6.
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.
Clin Chem
; 57(4): 593-602, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21273509
7.
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Brain
; 133(11): 3210-20, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20852264
8.
Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.
Proteomics
; 8(18): 3822-32, 2008 Sep.
Article
in English
| MEDLINE | ID: mdl-18712764
9.
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.
Mol Genet Metab
; 94(4): 481-484, 2008 Aug.
Article
in English
| MEDLINE | ID: mdl-18571450
10.
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Nat Commun
; 7: 11600, 2016 05 27.
Article
in English
| MEDLINE | ID: mdl-27231034
11.
Xp21.2 contiguous gene syndrome due to deletion involving glycerol kinase and Duchenne muscular dystrophy loci.
Neurol India
; 58(4): 670-1, 2010.
Article
in English
| MEDLINE | ID: mdl-20739824
12.
Search for rare liver diseases: the case of glycosylation defects mimicking Wilson Disease.
Clin Res Hepatol Gastroenterol
; 38(4): 403-6, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24972800
13.
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
Pediatrics
; 130(4): e1034-9, 2012 Oct.
Article
in English
| MEDLINE | ID: mdl-22966035
14.
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.
J Child Neurol
; 24(1): 13-8, 2009 Jan.
Article
in English
| MEDLINE | ID: mdl-19168813
15.
Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia.
Pediatr Res
; 62(1): 101-5, 2007 Jul.
Article
in English
| MEDLINE | ID: mdl-17515832
16.
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
Mol Genet Metab
; 90(4): 408-13, 2007 Apr.
Article
in English
| MEDLINE | ID: mdl-17307006
17.
Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.
Glycobiology
; 15(12): 1312-9, 2005 Dec.
Article
in English
| MEDLINE | ID: mdl-16037491
18.
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
Mol Genet Metab
; 79(3): 149-59, 2003 Jul.
Article
in English
| MEDLINE | ID: mdl-12855219
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