Overview of Newborn Screening of Lysosomal Storage Diseases for Pediatric Care Providers is a research paper published in OBM Genetics (2023). On theSindex it has a DataRank of 0.113. It has been cited 1 time, with 1 citing works in its 1-hop citation network.
Lysosomal storage disorders (LSD) are caused by enzymatic failure to degrade specific cellular byproducts of metabolism within the lysosome. They have a wide range of presentations involving multiple body systems and can manifest from infancy through adulthood. As treatments have become available for many of these disorders, newborn screening has been adapted for early identification and pre-symptomatic treatment. This article will review some of the LSD that are now being added to newborn screening panels, including globoid cell leukodystrophy (Krabbe), Gaucher disease, Fabry disease, Mucopolysaccharidosis Type I (Hurler; MPSI), Mucopolysaccharidosis Type II (Hunter; MPSII), Acid Sphingomyelinase deficiency (ASMD), and Pompe 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
9.50 × 10⁻³
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 92% comes from its base citations and 8% 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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