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内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(3)
Elsevier电子期刊(2)
在“
SpringerLink电子期刊
”中,
命中:
3
条,耗时:小于0.01 秒
在所有数据库中总计命中:
6
条
1.
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
作者:
Berta Almoguera (1)
Sijie He (2) (3)
Marta Corton (4) (5)
Patricia Fernandez-San Jose (4) (5)
Fiona Blanco-Kelly (4) (5)
Maria Isabel L贸pez-Molina (5) (6)
Blanca Garc铆a-Sandoval (5) (6)
Javier del Val (7)
Yiran Guo (1)
Lifeng Tian (1)
Xuanzhu Liu (3)
Liping Guan (3)
Rosa J Torres (8)
Juan G Puig (9)
Hakon Hakonarson (1)
Xun Xu (10) (3)
Brendan Keating (1)
Carmen Ayuso (4) (5)
1. Center for Applied Genomics
;
The Children鈥檚 Hospital of Philadelphia
;
Philadelphia
;
PA
;
19104
;
USA
2. College of Life Sciences
;
University of Chinese Academy of Sciences
;
Beijing
;
100049
;
China
3. BGI-Shenzhen
;
Shenzhen
;
518083
;
China
4. Department of Genetics and Genomics
;
IIS-Fundaci贸n Jim茅nez D铆az University Hospital (IISFJD
;
UAM)
;
28040
;
Madrid
;
Spain
5. Center for Biomedical Network Research on Rare Diseases (CIBERER)
;
ISCIII
;
Madrid
;
Spain
6. Department of Ophthalmology
;
Fundaci贸n Jim茅nez D铆az
;
28040
;
Madrid
;
Spain
7. Department of Neurology
;
Fundaci贸n Jim茅nez D铆az
;
28040
;
Madrid
;
Spain
8. Department of Biochemistry
;
La Paz University Hospital IdiPaz
;
Madrid
;
28046
;
Spain
9. Department of Internal Medicine
;
Metabolic-Vascular Unit
;
La Paz University Hospital IdiPaz
;
Madrid
;
28046
;
Spain
10. The Guangdong Enterprise Key Laboratory of Human Disease Genomics
;
Shenzhen
;
China
关键词:
PRPS1
;
Retinitis pigmentosa
;
Non
;
random X
;
chromosome inactivation
;
Phosphoribosyl
pyrophosphate
synthetase
deficiency
;
Neuropathy
刊名:Orphanet Journal of Rare Diseases
出版年:2014
2.
Inborn errors of purine metabolism: clinical update and therapies
作者:
Shanti Balasubramaniam
;
John A. Duley…
刊名:Journal of Inherited Metabolic Disease
出版年:2014
3.
Nephrolithiasis related to inborn metabolic diseases
作者:
Pierre Cochat
;
Val¨¦rie Pichault
;
Justine Bacchetta
;
Laurence Dubourg
;
Jean-Fran?ois Sabot
;
Christine Saban
;
Michel Daudon and Aur¨¦lia Liutkus
关键词:
Nephrolithiasis
;
Nephrocalcinosis
;
Primary hyperoxaluria
;
Fanconi syndrome
;
Cystinuria
;
Purine metabolism
;
Pyrimidine metabolism
;
Uric acid
;
Xanthine
;
Glycogen storage disease type 1
刊名:Pediatric Nephrology
出版年:2010
1
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