CD59 Deficiency
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CD59 Deficiency
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
CD59 Deficiency
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
Anemia, Hemolytic
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Polyneuropathy
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Absent reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Paralysed
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Skeletal muscle atrophy
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Muscle weakness of limb
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Increased CSF protein
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Generalized hypotonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Fumaric aciduria
|
0.010 |
Biomarker
|
disease |
BEFREE |
Intermittent lactic acidemia and fumaric aciduria, an extreme hyperglycemic response to an intravenous bolus of alanine, and an elevated total body flux rate of glucose (58.4 mumoles . kg-1 . min-1) suggested a disturbance in the oxidative decarboxylation of pyruvate.
|
119480 |
1979 |
Familial benign hypercalcemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
We obtained evidence suggesting that active calcium efflux by erythrocytes from patients with FBH (85.7 +/- 4.5 mumol 1(-1) min-1) is higher (P less than 0.005) than that by erythrocytes from control subjects (78.6 +/- 4.1 mumol 1(-1) min-1) or from patients with primary hyperparathyroidism (77.5 +/- 5.2 mumol 1(-1) min-1, P less than 0.05).
|
6098479 |
1984 |
Hypertrophic Cardiomyopathy
|
0.020 |
Biomarker
|
disease |
BEFREE |
We describe a case of an 18 years old patient with a family history of hypertrophic cardiomyopathy and sudden death in whom ventricular fibrillation could be repeatedly induced by means of transesophageal atrial stimulation with 1:1 AV conduction at a rate of 200 beats min-1 and prevented by pharmacological depression of AV node.
|
3665949 |
1987 |
Ventricular Fibrillation
|
0.010 |
Biomarker
|
disease |
BEFREE |
We describe a case of an 18 years old patient with a family history of hypertrophic cardiomyopathy and sudden death in whom ventricular fibrillation could be repeatedly induced by means of transesophageal atrial stimulation with 1:1 AV conduction at a rate of 200 beats min-1 and prevented by pharmacological depression of AV node.
|
3665949 |
1987 |
Hypertrophic obstructive cardiomyopathy
|
0.010 |
Biomarker
|
disease |
BEFREE |
We describe a case of an 18 years old patient with a family history of hypertrophic cardiomyopathy and sudden death in whom ventricular fibrillation could be repeatedly induced by means of transesophageal atrial stimulation with 1:1 AV conduction at a rate of 200 beats min-1 and prevented by pharmacological depression of AV node.
|
3665949 |
1987 |
Radiation Damage
|
0.010 |
Biomarker
|
disease |
BEFREE |
In addition, experiments utilising continuous low dose rate irradiation at 3.2 cGy min-1, showed that the cells possessed only a small capacity to recover from radiation damage (dose reduction factor at 1% cell survival of 1.15 for 150 versus 3.2 cGy min-1).
|
3179184 |
1988 |
Diabetes
|
0.070 |
Biomarker
|
disease |
BEFREE |
The negative predictive value of a stimulated insulin (1-min + 3-min insulin - 2 X basal insulin) level greater than 24 microU/ml to be greater than 1.5 yr from diabetes was 90% (9 of 10 values) and 100% (10 of 10 values) at greater than 1 yr from overt diabetes.(ABSTRACT TRUNCATED AT 250 WORDS)
|
2190768 |
1990 |
Diabetes Mellitus
|
0.070 |
Biomarker
|
group |
BEFREE |
The negative predictive value of a stimulated insulin (1-min + 3-min insulin - 2 X basal insulin) level greater than 24 microU/ml to be greater than 1.5 yr from diabetes was 90% (9 of 10 values) and 100% (10 of 10 values) at greater than 1 yr from overt diabetes.(ABSTRACT TRUNCATED AT 250 WORDS)
|
2190768 |
1990 |
Cystic Fibrosis
|
0.020 |
Biomarker
|
disease |
BEFREE |
Renal dopa clearance was the same in cystic fibrosis (9.26 +/- 5.71 ml min-1 1.73 m-2) and controls (10.87 +/- 2.46 ml min-1 1.73 m-2).
|
2114988 |
1990 |
Alzheimer's Disease
|
0.050 |
Biomarker
|
disease |
BEFREE |
The mRNA for MIRL was detected in RNA extracts of both AD and normal brain.
|
1710165 |
1991 |
Neuroblastoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
MIRL was also detected in cultured IMR-32 neuroblastoma cells.
|
1710165 |
1991 |
Central neuroblastoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
MIRL was also detected in cultured IMR-32 neuroblastoma cells.
|
1710165 |
1991 |
Childhood Neuroblastoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
MIRL was also detected in cultured IMR-32 neuroblastoma cells.
|
1710165 |
1991 |