Mutation identification of Fabry disease in families with other lysosomal storage disorders is a research paper published in Clinical Genetics (2013). On theSindex it has a DataRank of 0.183. It has been cited 2 times, with 2 citing works in its 1-hop citation network.
Fabry disease (FD) is an X‐linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme α‐galactosidase. It exhibits a wide clinical spectrum that may lead to a delayed or even missed diagnosis and the real incidence can be underestimated. We report the cases of two unrelated Italian families in whom FD was incidentally diagnosed in two females. In both families, the risk for other lysosomal disorders was known from other members affected by fucosidosis or mucopolysaccharidosis I Hurler/Scheie. Some subjects were simultaneously heterozygous for Fabry and the other lysosomal deficiency. Our study shows that the risk for more than one LSDs can occur in a family pedigree. The diagnosis of Fabry in female probands represents a diagnostic challenge, as symptoms and signs can be variably present because of the random X‐chromosome inactivation.
FAIR checklist signals are shown for context only and do not affect DataRank scoring.
Base Score Contribution
0.165
From this paper's citation signal
Citation Network Contribution
0.0177
From 2 citing papers with measurable signal
DataRank blends this paper's own citation count with the influence of the papers that cite it. Here, roughly 90% comes from its base citations and 10% from the citation network (2 citing papers contributed measurable signal).
Citers are pulled from OpenAlex sorted by cited_by_count:descand capped per paper, so when the cap binds we keep the highest-signal references and the score is reproducible across reruns.
Click a node to highlight its connections. Use scroll to zoom. Drag to pan.