相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Contribution of Dietary Oxalate and Oxalate Precursors to Urinary Oxalate Excretion
Joseph J. Crivelli et al.
NUTRIENTS (2021)
Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1 A Placebo-Controlled Randomized Clinical Trial
Yaacov Frishberg et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2021)
Development and Validation of a New Gas Chromatography-Tandem Mass Spectrometry Method for the Measurement of Enrichment of Glyoxylate Metabolism Analytes in Hyperoxaluria Patients Using a Stable Isotope Procedure
Dewi van Harskamp et al.
ANALYTICAL CHEMISTRY (2020)
End Points for Clinical Trials in Primary Hyperoxaluria
Dawn S. Milliner et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2020)
The Human Gene Mutation Database (HGMD(R)): optimizing its use in a clinical diagnostic or research setting
Peter D. Stenson et al.
HUMAN GENETICS (2020)
Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation
Prince Singh et al.
KIDNEY INTERNATIONAL REPORTS (2020)
CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I
Nerea Zabaleta et al.
NATURE COMMUNICATIONS (2018)
Plasma oxalate in relation to eGFR in patients with primary hyperoxaluria, enteric hyperoxaluria and urinary stone disease
Majuran Perinpam et al.
CLINICAL BIOCHEMISTRY (2017)
Oxalate, inflammasome, and progression of kidney disease
Theresa Ermer et al.
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION (2016)
Ascorbic acid intake and oxalate synthesis
John Knight et al.
UROLITHIASIS (2016)
Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine
Riccardo Montioli et al.
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS (2015)
AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population
Lamiae Boualla et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2015)
Molecular basis of primary hyperoxaluria and strategies for diagnosis
Gill Rumsby
EXPERT OPINION ON ORPHAN DRUGS (2015)
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1
Sonia Fargue et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2013)
Primary Hyperoxaluria
Pierre Cochat et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
A test of the hypothesis that oxalate secretion produces proximal tubule crystallization in primary hyperoxaluria type I
Elaine M. Worcester et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2013)
Molecular insights into primary hyperoxaluria type i pathogenesis
Barbara Cellini et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2012)
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment
Pierre Cochat et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2012)
Metabolism of primed, constant infusions of [1,2-13C2] glycine and [1-13C1] phenylalanine to urinary oxalate
John Knight et al.
METABOLISM-CLINICAL AND EXPERIMENTAL (2011)
Evidence for net renal tubule oxalate secretion in patients with calcium kidney stones
Kristin J. Bergsland et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2011)
Human liver peroxisomal alanine:glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant
Barbara Cellini et al.
BIOCHIMIE (2010)
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome
Jerome Harambat et al.
KIDNEY INTERNATIONAL (2010)
Phenotypic and Functional Analysis of Human SLC26A6 Variants in Patients With Familial Hyperoxaluria and Calcium Oxalate Nephrolithiasis
Carla G. Monico et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2008)
Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer
Eduardo C. Salido et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele
CG Monico et al.
KIDNEY INTERNATIONAL (2005)
Molecular etiology of primary hyperoxaluria type 1: New directions for treatment
CJ Danpure
AMERICAN JOURNAL OF NEPHROLOGY (2005)
Clinical implications of mutation analysis in primary hyperoxaluria type 1
CS van Woerden et al.
KIDNEY INTERNATIONAL (2004)
Primary hyperoxaluria type 1 in the Canary Islands:: A conformational disease due to I244T mutation in the P11 L-containing alanine:glyoxylate aminotransferase
A Santana et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
分享论文
