| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-77 |
Sentence |
denotes |
Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. |
| T2 |
78-194 |
Sentence |
denotes |
We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). |
| T3 |
195-316 |
Sentence |
denotes |
In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. |
| T4 |
317-456 |
Sentence |
denotes |
In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. |
| T5 |
457-716 |
Sentence |
denotes |
A comparison of genotypes, ARSA activities, and clinical data on 4 individuals carrying the allele of 81 patients with MLD examined, further validates the concept that different degrees of residual ARSA activity are the basis of phenotypical variation in MLD. |
