Nonstandard abbreviations: PD, Pompe disease; IOPD, infantile-onset Pompe disease; LOPD, late-onset Pompe disease; GAA, lysosomal acid a-glucosidase; MS/MS, tandem mass spectrometry; VOUS, variants of unknown significance; S, substrate; IS, internal standard; P, product; RBC, red blood cell; S/N, signal-to-noise ratio; EOPD, early-onset Pompe disease; PD/PD, pseudodeficiency/pseudodeficiency; PD/Pathogenic, pseudodeficiency/pathogen mutation; PD/VOUS, pseudodeficiency/VOUS.
GAA activities of EOPD and LOPD in immortalized B-lymphocytes.
For a case-control study, controls were also divided into two groups: Control team 1 (CT1) (118 subjects, AAE 47.27 [+ or -] 8.97 years, 53.4% males) and control team 2 (CT2) (392 subjects, AAE 66.39 [+ or -] 7.25 years, 61.5% males), matched with EOPD and LOPD, respectively.
Furthermore, each case-control group was statistically comparable in both AAE and gender (EOPD vs.
We aimed to identify factors influencing EOPD and LOPD development in a group of 397 PD patients in SA.
For the first 3.5 years, the study focussed mainly on recruiting EOPD patients and/or those with a positive family history of PD (as these were thought to harbour a greater genetic component).
Perception based measures such as EOPD can expose hidden sources of discrimination where respondents express dissatisfaction with policies which claim to be gender sensitized.
Score on EOPD is calculated by summing the first four items of the PWEI as follows:
As shown in Table 2, after adjusting for age, disease duration, Hoehn-Yahr stage, impact of levodopa therapy, and EOPD
, three variables, including the 3111T/C variant (P < 0.001), UPDRS II + III (P < 0.001), and Hoehn-Yahr stage (P = 0.044), were significantly associated with motor fluctuation in the logistic regression.
The idea that parkinsonian symptoms in 22qD patients occur specifically as the consequence of nigrostriatal degeneration has been proposed years later when two 22qDS patients without antipsychotic medications were found to develop EOPD
(age < 45 years) .