Congenital disorder of glycosylation type 1B
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
The Role of T1-Weighted Derived Measures of Neurodegeneration for Assessing Disability Progression in Multiple Sclerosis.
|
28928705 |
2017 |
Congenital disorder of glycosylation type 1B
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Congenital disorder of glycosylation type 1B
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
GESPA: classifying nsSNPs to predict disease association.
|
26206375 |
2015 |
Congenital disorder of glycosylation type 1B
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.
|
24508628 |
2014 |
Congenital disorder of glycosylation type 1B
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.
|
24508628 |
2014 |
Congenital disorder of glycosylation type 1B
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.
|
24421398 |
2014 |
Congenital disorder of glycosylation type 1B
|
0.790 |
AlteredExpression
|
disease |
BEFREE |
Probing for the underlying enzyme defect(s) using cultured skin fibroblasts demonstrated normal activity of phosphomannomutase, whereas the activity of phosphomannose isomerase (MPI) was reduced (0.64 mU/mg protein, reference 2.1-6.9), pointing to CDG of the MPI subtype (formerly called CDG-Ib).
|
24508628 |
2014 |
Congenital disorder of glycosylation type 1B
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.
|
24421398 |
2014 |
Congenital disorder of glycosylation type 1B
|
0.790 |
Biomarker
|
disease |
BEFREE |
Both PMM2 and MPI compete for the same substrate, Man-6-P. Daily mannose doses reverse most of the symptoms of MPI-deficient CDG-Ib patients.
|
21949237 |
2011 |
Congenital disorder of glycosylation type 1B
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
5 patients with CDG Ik are described, and their identification reveals that in France, this disease and CDG Ib (mannose phosphate isomerase deficiency: OMIM 602579) are the most frequently diagnosed CDG I after CDG Ia (phosphomannomutase 2 deficiency: OMIM 601785) and substantiate previous observations indicating that this disease presents at the severe end of the CDG I clinical spectrum.
|
20679665 |
2010 |
Congenital disorder of glycosylation type 1B
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
We suggest that in patients with MPI-CDG, intravenous mannose infusion can lead to intracellular ATP deprivation due to several mechanisms: (1) in MPI deficiency, mannose 6-P cannot be isomerised to fructose 6-P and therefore is unavailable for glycolysis; (2) animal data has shown that accumulating intracellular mannose 6-P inhibits glycolysis; and (3) elevated intracellular mannose 6-P may induce an ATP wasting cycle of dephosphorylation and rephosphorylation ("honey bee effect").
|
21240668 |
2010 |
Congenital disorder of glycosylation type 1B
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
[Congenital disorder of glycosylation type 1b. Experience with mannose treatment].
|
18928705 |
2008 |
Congenital disorder of glycosylation type 1B
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
[Congenital disorder of glycosylation type 1b. Experience with mannose treatment].
|
18928705 |
2008 |
Congenital disorder of glycosylation type 1B
|
0.790 |
Biomarker
|
disease |
BEFREE |
The most interesting disease in this group is CDG-Ib (phosphomannose isomerase deficiency) because it is so far the only efficiently treatable CDG (mannose treatment).
|
12889654 |
2003 |
Congenital disorder of glycosylation type 1B
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
|
12414827 |
2002 |
Congenital disorder of glycosylation type 1B
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
|
12357336 |
2002 |
Congenital disorder of glycosylation type 1B
|
0.790 |
Biomarker
|
disease |
BEFREE |
PMM2 (CDG-Ia; 91 patients) and MPI (CDG-Ib; 10 patients).
|
11875054 |
2002 |
Congenital disorder of glycosylation type 1B
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
|
12414827 |
2002 |
Congenital disorder of glycosylation type 1B
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
An abnormal serum transferrin isoelectric focusing (IEF) pattern and a reduced PMI activity confirmed the diagnosis of CDG-Ib.
|
11350186 |
2001 |
Congenital disorder of glycosylation type 1B
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
An abnormal serum transferrin isoelectric focusing (IEF) pattern and a reduced PMI activity confirmed the diagnosis of CDG-Ib.
|
11350186 |
2001 |
Congenital disorder of glycosylation type 1B
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
An abnormal serum transferrin isoelectric focusing (IEF) pattern and a reduced PMI activity confirmed the diagnosis of CDG-Ib.
|
11350186 |
2001 |
Congenital disorder of glycosylation type 1B
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
She is homozygous for a mutation, D131N, in the phosphomannose isomerase gene (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b.
|
11567948 |
2001 |
Congenital disorder of glycosylation type 1B
|
0.790 |
Biomarker
|
disease |
BEFREE |
The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.
|
11134235 |
2001 |
Congenital disorder of glycosylation type 1B
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.
|
11134235 |
2001 |
Congenital disorder of glycosylation type 1B
|
0.790 |
AlteredExpression
|
disease |
BEFREE |
An abnormal serum transferrin isoelectric focusing (IEF) pattern and a reduced PMI activity confirmed the diagnosis of CDG-Ib.
|
11350186 |
2001 |