Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children
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Title
Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children
Authors
Keywords
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Journal
PEDIATRIC NEPHROLOGY
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-05-23
DOI
10.1007/s00467-019-04279-7
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Note: Only part of the references are listed.- Metabolite diagnosis of primary hyperoxaluria type 3
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- (2017) Emmanuel Richard et al. ANNALS OF CLINICAL BIOCHEMISTRY
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- (2016) Saoussen M'dimegh et al. JOURNAL OF CLINICAL LABORATORY ANALYSIS
- Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3
- (2015) Xinsheng Wang et al. AMERICAN JOURNAL OF NEPHROLOGY
- Predictors of Incident ESRD among Patients with Primary Hyperoxaluria Presenting Prior to Kidney Failure
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- Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria
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- Renal function can be impaired in children with primary hyperoxaluria type 3
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- (2013) Pierre Cochat et al. NEW ENGLAND JOURNAL OF MEDICINE
- Kidney Stones in Primary Hyperoxaluria: New Lessons Learnt
- (2013) Dorrit E. Jacob et al. PLoS One
- 4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition
- (2012) Travis J. Riedel et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies
- (2012) Bodo B Beck et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- An update on primary hyperoxaluria
- (2012) Bernd Hoppe Nature Reviews Nephrology
- 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
- New Equations to Estimate GFR in Children with CKD
- (2009) G. J. Schwartz et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
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