# Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/twelve-novel-hgd-gene-variants-identified-in-99-alkaptonuria-patients-focus-on/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Martina Nemethova,Ján Radvánszky,Ľudevít Kádaši,David B. Ascher,Douglas E. V. Pires,Tom L. Blundell,Berardino Porfirio,Alessandro Mannoni,Annalisa Santucci,Lia Milucci,Silvia Sestini,G. Biolcati,Fiammetta Sorge,Caterina Aurizi,R Aquaron,Mohammed Alsbou,Charles Marques Lourenço,K Ramadevi,L. Ranganath,James A. Gallagher,Christa van Kan,Anthony K Hall,Birgitta Olsson,Nicolas Sireau,Hana Ayoob,Oliver Timmis,Kim‐Hanh Le Quan Sang,Federica Genovese,Richard Imrich,Jozef Rovenský,Rangan Srinivasaraghavan,Shruthi K. Bharadwaj,Ronen Spiegel,Andrea Zaťková |
| Citations | 104 |
| DOI | 10.1038/ejhg.2015.60 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://www.nature.com/articles/ejhg201560.pdf |
| OpenAlex ID | https://openalex.org/W1512701088 |
| PMID | 25804398 |
| Type | article |
| Year | 2015 |

## Paper authors

- [Federica Genovese](https://scholariq.org/researchers/federica-genovese/)

## Paper journal

- [European Journal of Human Genetics](https://scholariq.org/journals/european-journal-of-human-genetics/)

## Paper primary topic

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)

## Paper topics

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Biochemical and Molecular Research](https://scholariq.org/topics/biochemical-and-molecular-research/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)

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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.