Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations
In addition to reporting six novel <i>GNPTAB/GNPTG</i> mutations, this study highlights the diagnostic potential of dried blood spot (DBS) samples, where elevated lysosomal enzyme activity may offer a valuable, minimally invasive screening method for ML II/III.
Authors
- Mahmut Çöker (ORCID: https://orcid.org/0000-0001-6494-9539)
- Tahir Atık (ORCID: https://orcid.org/0000-0002-1142-3872)
- Merve Saka Güvenç (ORCID: https://orcid.org/0000-0001-8842-0381)
- Rabia ALAY ESER
- Havva Yazıcı (ORCID: https://orcid.org/0000-0002-2564-7420)
- Sema Kalkan Uçar (ORCID: https://orcid.org/0000-0001-9574-7841)
- Eser Yıldırım Sözmen (ORCID: https://orcid.org/0000-0002-6383-6724)
- Ebru Canda (ORCID: https://orcid.org/0000-0002-9175-1998)
- İpek Tamsel (ORCID: https://orcid.org/0000-0003-3629-2386)
- Merve Yoldaş Çelik (ORCID: https://orcid.org/0000-0003-0015-9807)
- Fehime Erdem (ORCID: https://orcid.org/0000-0002-5597-9290)
- Hüseyin Önay (ORCID: https://orcid.org/0000-0002-0584-8866)
- Selcan Keşan
Institutions
- Izmir University (TR)
- İzmir University of Economics (TR)
- Ege University (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-10-09
- DOI
- https://doi.org/10.1515/jpem-2025-0352
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00