NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS is a research paper published in Russian Journal of Child Neurology (2017). On theSindex it has a DataRank of 0.118. It has been cited 1 time, with 1 citing works in its 1-hop citation network.
Fabry disease (Anderson–Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A, which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells (predominantly endothelial and vascular smooth muscle cells) with clinical manifestations affecting major organs including the central nervous system. Clinical onset of Fabry disease usually occurs in childhood, but many patients are diagnosed in adulthood. Early recognition of symptoms, enzyme activity levels, concentration of Gb3 in the blood, urine and skin bioptates, as well as genetic testing (GLA gene) enable establishment of early diagnosis and therapeutic intervention with enzyme replacement therapy. Early therapy may prevent complications of the disease.
FAIR checklist signals are shown for context only and do not affect DataRank scoring.
Base Score Contribution
0.104
From this paper's citation signal
Citation Network Contribution
0.0140
From 1 citing papers with measurable signal
Ranked by citation count — the same ordering the engine uses when summing log1p(Cq) over citers.
DataRank blends this paper's own citation count with the influence of the papers that cite it. Here, roughly 88% comes from its base citations and 12% from the citation network (1 citing paper 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.
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