Related references
Note: Only part of the references are listed.Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation
Xiulan Lu et al.
FRONTIERS IN PHARMACOLOGY (2019)
Molecular basis of primary hyperoxaluria: clues to innovative treatments
Mirco Dindo et al.
UROLITHIASIS (2019)
Recent advances in the identification and management of inherited hyperoxalurias
David J. Sas et al.
UROLITHIASIS (2019)
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review
Dun-feng Du et al.
CURRENT MEDICAL SCIENCE (2018)
A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population
Xiyuan Li et al.
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE (2018)
Primary hyperoxaluria: spectrum of clinical and imaging findings
Sara B. Strauss et al.
PEDIATRIC RADIOLOGY (2017)
Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation
Ibtihel Benhaj Mbarek et al.
BMC NEPHROLOGY (2017)
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Laura M. Amendola et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Urine oxalate biological variation in patients with primary hyperoxaluria
Oliver Clifford-Mobley et al.
UROLITHIASIS (2016)
Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones
Cui Wang et al.
SCIENTIFIC REPORTS (2016)
Primary hyperoxaluria in infants
Manel Jellouli et al.
SAUDI JOURNAL OF KIDNEY DISEASES AND TRANSPLANTATION (2016)
Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome
Mohamed S. Al Riyami et al.
INTERNATIONAL JOURNAL OF NEPHROLOGY (2015)
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1
Guo-min Li et al.
BMC NEPHROLOGY (2014)
Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions
Bodo B. Beck et al.
EXPERT OPINION ON INVESTIGATIONAL DRUGS (2013)
A Novel Mutation of Human Liver Alanine:Glyoxylate Aminotransferase Causes Primary Hyperoxaluria Type 1: Immunohistochemical Quantification and Subcellular Distribution
Chikage Kawai et al.
ACTA HISTOCHEMICA ET CYTOCHEMICA (2012)
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment
Pierre Cochat et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2012)
Mutation-based diagnostic testing for primary hyperoxaluria type 1: Survey of results
Marion B. Coulter-Mackie et al.
CLINICAL BIOCHEMISTRY (2008)
Estimating and measuring glomerular filtration rate in children
Dana F. Work et al.
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION (2008)
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type I
Emma Williams et al.
CLINICAL CHEMISTRY (2007)
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis
Carla G. Monico et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
Primary hyperoxaluria type 1: still challenging!
Pierre Cochat et al.
PEDIATRIC NEPHROLOGY (2006)
The major allele of the alanine:glyoxylate aminotransferase gene:: Nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1
MB Coulter-Mackie et al.
MOLECULAR GENETICS AND METABOLISM (2005)
Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype
MB Coulter-Mackie
AMERICAN JOURNAL OF NEPHROLOGY (2005)
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis
MB Coulter-Mackie et al.
MOLECULAR GENETICS AND METABOLISM (2004)
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome
CS van Woerden et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2003)