ArticleJIMD reports2021
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.
Article in JIMD reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.Molecular genetics and metabolism · 2023Review
- Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.JIMD reports · 2021Article
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2 authors at 2 institutions in 1 country.
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Abstract
Mucopolysaccharidosis type II (MPS II) is a multi-systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2-sulfatase (IDS). The broad clinical heterogeneity of MPS II can be partly ascribed to the high level of molecular diversity in the gene locus with the majority of variants localised within one family. Here, we describe a case of fetal hepatomegaly that was causatively investigated for 151 genes associated with fetal hydrops and lysosomal diseases. Sequence analysis identified a novel hemizygous variant, pAsp532Gly, in exon 9 of the
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