|
Blood spots
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Diagnosis of Fabry disease was confirmed by sequencing of the GLA gene and by evaluating the globotriaosylsphingosine level in the dried blood spots.
|
30677769 |
2019 |
|
Blood spots
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We studied a prospectively assembled consecutive cohort of 585 patients (71% male) from 2 hypertrophic cardiomyopathy tertiary referral centers by screening for low α-galactosidase A activity in dried blood spots.
|
28943383 |
2018 |
|
Blood spots
|
0.100 |
Biomarker
|
disease |
BEFREE |
To test whether reduction in lysosomal enzymatic activity in PD is specific to GCase, we measured GCase, acid sphingomyelinase (deficient in Niemann-Pick disease types A and B), alpha galactosidase A (deficient in Fabry), acid alpha-glucosidase (deficient in Pompe) and galactosylceramidase (deficient in Krabbe) enzymatic activities in dried blood spots of PD patients (n = 648) and controls (n = 317) recruited from Columbia University.
|
29369793 |
2018 |
|
Blood spots
|
0.100 |
Biomarker
|
disease |
BEFREE |
Methods- Participants included Parkinson disease patients and nonblood-related controls, whose GLA and GAA enzymatic activities were measured in dried blood spots.
|
29986930 |
2018 |
|
Blood spots
|
0.100 |
Biomarker
|
disease |
BEFREE |
Blood samples were obtained to produce blood spots to determine α-galactosidase A (α-GalA) activity and for GLA gene analysis.
|
28275245 |
2017 |
|
Blood spots
|
0.100 |
Biomarker
|
disease |
BEFREE |
Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 μmol/L/h.
|
27832731 |
2017 |
|
Blood spots
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It identified common GLA variants in DNA samples extracted from whole blood or dried blood spots with 100% accuracy and sensitivity.
|
24613481 |
2014 |
|
Blood spots
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A blood sample was obtained to produce blood spots for measurement of α-GAL activity.
|
23724928 |
2014 |
|
Blood spots
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
GLA activity in dried blood spots was measured using a fluorescence assay and confirmed by measurement of GLA activity in white blood cells (WBCs) in infants with abnormally low GLA activity.
|
23677059 |
2013 |
|
Blood spots
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, male subjects harboring the c.196G>C nucleotide change which leads to the E66Q enzyme having low α-galactosidase A (GLA) activity have been identified at an unexpectedly high frequency on Japanese and Korean screening for Fabry disease involving dry blood spots and plasma/serum samples.
|
22305854 |
2012 |
|
Blood spots
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In male patients, we measured alpha-galactosidase A (alpha-GAL A) activity in dried blood spots.
|
20360539 |
2010 |
|
Blood spots
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A total of 110 027 newborns were screened by assaying the alpha-galactosidase A (alpha-Gal A) activity using dry blood spots.
|
20031620 |
2009 |
|
Blood spots
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
To determine the disease incidence, we undertook newborn screening by assaying the alpha-Gal A activity in blood spots from 37,104 consecutive Italian male neonates.
|
16773563 |
2006 |