ArticleDiagnostics (Basel, Switzerland)2022
Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.
Article in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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
3 citing papers in PubMed, 2 citations in OpenAlex.
- Mucopolysaccharidosis type IIIA and IIIC phenotypic progression: A case series.Molecular genetics and metabolism reports · 2026Article
- Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador.Diagnostics (Basel, Switzerland) · 2025Article
- Heart Disease Characterization and Myocardial Strain Analysis in Patients withJournal of clinical medicine · 2023Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
We present an unusual Mexican patient affected with mucopolysaccharidosis type IIIB (MPS IIIB; also called Sanfilippo B syndrome, MIM #252920) bearing clinical features that have not previously been described for MPS IIIB (growth arrest, hypogonadotropic hypogonadism, and congenital heart disease). Chromosomal microarray analysis was useful in identifying runs of homozygosity at 17q11.1-q21.33 and supporting the diagnosis of an underlying autosomal recessive condition. Sanger sequencing of
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