Associated Papers
Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.
Zhu X et al.
Kidney Diseases (basel, Switzerland), 2024
A case report of invasive infantile primary hyperoxaluria type 1 and literature review.
Ni T et al.
Cen Case Reports, 2023
[Inherited kidney stones: A nephrology center experience].
Kaaroud H et al.
Progres En Urologie : Journal De L'association Francaise D'urologie Et De La Societe Francaise D'urologie, 2019
Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.
Lu X et al.
Frontiers in Pharmacology, 2019
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.
Du DF et al.
Current Medical Science, 2018
Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation.
Mbarek IB et al.
Bmc Nephrology, 2017
Primary hyperoxaluria type 1 in 18 children: genotyping and outcome.
Al Riyami MS et al.
International Journal of Nephrology, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
Li GM et al.
Bmc Nephrology, 2014
Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
Nagara M et al.
Gene, 2013
Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.
Fargue S et al.
Kidney International, 2009
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
Williams E et al.
Clinical Chemistry, 2007
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
Rumsby G et al.
Kidney International, 2004
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
Monico CG et al.
American Journal of Nephrology, 0
Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital.
Rhuma NR et al.
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0