Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
-
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy ; volume:9 ; number:1 ; day:10 ; month:12 ; year:2014 ; pages:1-9 ; date:12.2014
Orphanet journal of rare diseases ; 9, Heft 1 (10.12.2014), 1-9, 12.2014
- Creator
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Almoguera, Berta
- Contributor
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He, Sijie
Corton, Marta
Fernandez-San Jose, Patricia
Blanco-Kelly, Fiona
López-Molina, Maria Isabel
García-Sandoval, Blanca
del Val, Javier
Guo, Yiran
Tian, Lifeng
Liu, Xuanzhu
Guan, Liping
Torres, Rosa J.
Puig, Juan G.
Hákon Hákonarson
Xu, Xun
Keating, Brendan
Ayuso, Carmen
SpringerLink (Online service)
- DOI
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10.1186/s13023-014-0190-9
- URN
-
urn:nbn:de:1111-2016050124668
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 11:02 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Almoguera, Berta
- He, Sijie
- Corton, Marta
- Fernandez-San Jose, Patricia
- Blanco-Kelly, Fiona
- López-Molina, Maria Isabel
- García-Sandoval, Blanca
- del Val, Javier
- Guo, Yiran
- Tian, Lifeng
- Liu, Xuanzhu
- Guan, Liping
- Torres, Rosa J.
- Puig, Juan G.
- Hákon Hákonarson
- Xu, Xun
- Keating, Brendan
- Ayuso, Carmen
- SpringerLink (Online service)
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