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。Perspectives in primary hyperoxaluria - historical, current and future clinical interventions
Kevin Shee et al.
NATURE REVIEWS UROLOGY (2022)
Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease
Roi Bar et al.
JOURNAL OF UROLOGY (2021)
A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3
Cristina Martin-Higueras et al.
KIDNEY INTERNATIONAL (2021)
Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants
Aiysha Abid
MOLECULAR BIOLOGY REPORTS (2021)
Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children
Xiaoliang Fang et al.
PEDIATRIC NEPHROLOGY (2019)
Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones
Lei He et al.
WORLD JOURNAL OF UROLOGY (2019)
Molecular basis of primary hyperoxaluria: clues to innovative treatments
Mirco Dindo et al.
UROLITHIASIS (2019)
Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population
Wenying Wang et al.
KIDNEY & BLOOD PRESSURE RESEARCH (2019)
Metabolite diagnosis of primary hyperoxaluria type 3
Lawrence Greed et al.
PEDIATRIC NEPHROLOGY (2018)
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients
Saoussen M'dimegh et al.
JOURNAL OF CLINICAL LABORATORY ANALYSIS (2017)
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria
Alessandra Pelle et al.
JOURNAL OF NEPHROLOGY (2017)
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Peter D. Stenson et al.
HUMAN GENETICS (2017)
Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III
Ada Ventzke et al.
PEDIATRIC NEPHROLOGY (2017)
Late diagnosis of primary hyperoxaluria type III
Emmanuel Richard et al.
ANNALS OF CLINICAL BIOCHEMISTRY (2017)
Predictors of Incident ESRD among Patients with Primary Hyperoxaluria Presenting Prior to Kidney Failure
Fang Zhao et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2016)
Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3
Julia R. MacDonald et al.
FEBS LETTERS (2016)
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
Johan T. den Dunnen et al.
HUMAN MUTATION (2016)
Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria
Oliver Clifford-Mobley et al.
ANNALS OF CLINICAL BIOCHEMISTRY (2016)
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3
Xinsheng Wang et al.
AMERICAN JOURNAL OF NEPHROLOGY (2015)
Hydroxyproline metabolism in a mouse model of Primary Hyperoxaluria Type 3
Xingsheng Li et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria
Katharina Hopp et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)
Renal function can be impaired in children with primary hyperoxaluria type 3
Lise Allard et al.
PEDIATRIC NEPHROLOGY (2015)
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing
Emma L. Williams et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2015)
ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2014)
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies
Bodo B. Beck et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Primary Hyperoxaluria
Pierre Cochat et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Hereditary causes of kidney stones and chronic kidney disease
Vidar O. Edvardsson et al.
PEDIATRIC NEPHROLOGY (2013)
Kidney Stones in Primary Hyperoxaluria: New Lessons Learnt
Dorrit E. Jacob et al.
PLOS ONE (2013)
Purification, crystallization and preliminary crystallographic analysis of human dihydrodipicolinate synthase-like protein (DHDPSL)
Richard D. Bunker et al.
ACTA CRYSTALLOGRAPHICA SECTION F-STRUCTURAL BIOLOGY COMMUNICATIONS (2012)
4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition
Travis J. Riedel et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2012)
Primary hyperoxalurias: Disorders of glyoxylate detoxification
Eduardo Salido et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2012)
Characteristics and Outcomes of Children with Primary Oxalosis Requiring Renal Replacement Therapy
Jerome Harambat et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2012)
Primary hyperoxaluria type III-a model for studying perturbations in glyoxylate metabolism
Ruth Belostotsky et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2012)
An update on primary hyperoxaluria
Bernd Hoppe
NATURE REVIEWS NEPHROLOGY (2012)
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3
Emma L. Williams et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2012)
Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis
Carla G. Monico et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2011)
LOVD v.2.0: The Next Generation in Gene Variant Databases
Ivo F. A. C. Fokkema et al.
HUMAN MUTATION (2011)
Structural and Biochemical Studies of Human 4-hydroxy-2-oxoglutarate Aldolase: Implications for Hydroxyproline Metabolism in Primary Hyperoxaluria
Travis J. Riedel et al.
PLOS ONE (2011)
Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III
Ruth Belostotsky et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Automated inference of molecular mechanisms of disease from amino acid substitutions
Biao Li et al.
BIOINFORMATICS (2009)
The primary hyperoxalurias
Bernd Hoppe et al.
KIDNEY INTERNATIONAL (2009)
The primary hyperoxalurias
Amy E. Bobrowski et al.
SEMINARS IN NEPHROLOGY (2008)
Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation:: Single-center experience
V. Lorenzo et al.
KIDNEY INTERNATIONAL (2006)
End-stage renal disease in Kuwaiti children: An 8-year experience
AA Al-Eisa et al.
TRANSPLANTATION PROCEEDINGS (2004)
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome
CS van Woerden et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2003)
Management of pediatric urolithiasis in Pakistan: Experience with 1,440 children
SAH Rizvi et al.
JOURNAL OF UROLOGY (2003)
Emerging challenges in transplantation in developing countries
SAH Rizvi et al.
TRANSPLANTATION PROCEEDINGS (2002)
Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II
CG Monico et al.
KIDNEY INTERNATIONAL (2002)