Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones
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Title
Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones
Authors
Keywords
AGXT, GRHPR, HOGA1, Primary hyperoxaluria
Journal
WORLD JOURNAL OF UROLOGY
Volume -, Issue -, Pages -
Publisher
Springer Nature
Online
2018-11-29
DOI
10.1007/s00345-018-2563-5
References
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- (2015) F. Zhao et al. Clinical Journal of the American Society of Nephrology
- Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria
- (2015) K. Hopp et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Renal function can be impaired in children with primary hyperoxaluria type 3
- (2015) Lise Allard et al. PEDIATRIC NEPHROLOGY
- Vitamin B6 in Primary Hyperoxaluria I: First Prospective Trial after 40 Years of Practice
- (2014) H. Hoyer-Kuhn et al. Clinical Journal of the American Society of Nephrology
- Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing
- (2014) Emma L. Williams et al. Molecular Genetics & Genomic Medicine
- Primary Hyperoxaluria
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- (2012) J. Harambat et al. Clinical Journal of the American Society of Nephrology
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- The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3
- (2012) E. L. Williams et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment
- (2012) P. Cochat et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis
- (2011) C. G. Monico et al. Clinical Journal of the American Society of Nephrology
- Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III
- (2010) Ruth Belostotsky et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Primary hyperoxaluria type 1: update and additional mutation analysis of theAGXTgene
- (2009) Emma L. Williams et al. HUMAN MUTATION
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