Evidence map›Paper›PMID 42565069›Full record

ArticleMolecular genetics and metabolism reports2026

Mucopolysaccharidosis type IIIA and IIIC phenotypic progression: A case series.

Paola Naal-Chan, Ermilo Echeverria-Ortegon, Jary-Davis Couoh-Castañeda, Jose-Luis Millet-Herrera, Fabiola-Concepcion Solis-Baeza, Myrna-Edith Perez-Garcia, Jorge-Santiago Rivera-Lavalle, Addy-Manuela Castillo-Espinola, Olga-Berenice Reyes-Flores, Felix-Julian Campos-Garcia

Abstract readCase Reports
In one paragraph

Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

10 authors.

Paola Naal-ChanDepartment of Pediatrics, General Hospital "Dr. Agustin O'Horan", Servicios de Salud del Instituto Mexicano del Seguro Social para el Bienestar (IMSS-BIENESTAR), Yucatan, Mexico.
Ermilo Echeverria-OrtegonCenter for Evidence-Based Health Research, Marista University, Yucatan, Mexico.
Jary-Davis Couoh-CastañedaDepartment of Pediatrics, General Hospital "Dr. Agustin O'Horan", Servicios de Salud del Instituto Mexicano del Seguro Social para el Bienestar (IMSS-BIENESTAR), Yucatan, Mexico.
Jose-Luis Millet-HerreraCenter for Evidence-Based Health Research, Marista University, Yucatan, Mexico.
Fabiola-Concepcion Solis-BaezaDepartment of Pediatrics, General Hospital "Dr. Agustin O'Horan", Servicios de Salud del Instituto Mexicano del Seguro Social para el Bienestar (IMSS-BIENESTAR), Yucatan, Mexico.
Myrna-Edith Perez-GarciaDepartment of Pediatrics, General Hospital "Dr. Agustin O'Horan", Servicios de Salud del Instituto Mexicano del Seguro Social para el Bienestar (IMSS-BIENESTAR), Yucatan, Mexico.
Jorge-Santiago Rivera-LavalleCenter for Evidence-Based Health Research, Marista University, Yucatan, Mexico.
Addy-Manuela Castillo-EspinolaPediatric Cardiology, Unidad Medica de Alta Especialidad, Instituto Mexicano del Seguro Social, Yucatan, Mexico.
Olga-Berenice Reyes-FloresDepartment of Pediatrics, General Hospital "Dr. Agustin O'Horan", Servicios de Salud del Instituto Mexicano del Seguro Social para el Bienestar (IMSS-BIENESTAR), Yucatan, Mexico.
Felix-Julian Campos-GarciaDepartment of Pediatrics, General Hospital "Dr. Agustin O'Horan", Servicios de Salud del Instituto Mexicano del Seguro Social para el Bienestar (IMSS-BIENESTAR), Yucatan, Mexico.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a group of rare autosomal recessive lysosomal storage disorders caused by deficiency of enzymes involved in heparan sulfate degradation, encoded by Methods: Two adolescent patients with progressive neurodevelopmental deterioration were evaluated at a tertiary genetics center in Yucatán, Mexico. Assessment included structured clinical history, neuroimaging, conventional karyotyping, and whole-exome sequencing (WES), with variants classified per ACMG/AMP guidelines. Results: Conclusions: These cases are consistent with the first reported diagnoses of MPS IIIA and MPS IIIC in Mexico, supported by concordant clinical and molecular findings and indicating the presence of at least three MPS III subtypes in the country. The two

Indexed as

HGSNATLysosomal storage diseaseMexicoMPS IIIAMPS IIICMucopolysaccharidosis type IIINovel variantsRare diseaseSanfilippo syndromeSGSH

Identifiers

PMID42565069
PMCPMC13446189

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.