# Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutation-spectrum-and-pivotal-features-for-differential-diagnosis-of/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Beyhan Tüysüz,Dilek Uludağ Alkaya,Güven Toksoy,Nilay Güneş,Timur Yıldırım,Avni İlhan Bayhan,Zehra Oya Uyguner |
| Citations | 16 |
| DOI | 10.1016/j.gene.2019.04.026 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2938735422 |
| PMID | 30980944 |
| Type | article |
| Year | 2019 |

## Paper authors

- [Dilek Uludağ Alkaya](https://scholariq.org/researchers/dilek-uludag-alkaya/)

## Paper primary topic

- [Lysosomal Storage Disorders Research](https://scholariq.org/topics/lysosomal-storage-disorders-research/)

## Paper topics

- [Lysosomal Storage Disorders Research](https://scholariq.org/topics/lysosomal-storage-disorders-research/)
- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)
- [Neurogenetic and Muscular Disorders Research](https://scholariq.org/topics/neurogenetic-and-muscular-disorders-research/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.