Clinical and molecular characterization of primary hyperoxaluria in Egypt
Published 2022 View Full Article
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Title
Clinical and molecular characterization of primary hyperoxaluria in Egypt
Authors
Keywords
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Journal
Scientific Reports
Volume 12, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-09-23
DOI
10.1038/s41598-022-17980-9
References
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Related references
Note: Only part of the references are listed.- Genetic assessment in primary hyperoxaluria: why it matters
- (2022) Giorgia Mandrile et al. PEDIATRIC NEPHROLOGY
- Lumasiran in the Management of Patients with Primary Hyperoxaluria Type 1: From Bench to Bedside
- (2022) Viola D'Ambrosio et al. International Journal of Nephrology and Renovascular Disease
- Imaging features of primary hyperoxaluria
- (2018) Mika Shapira Rootman et al. CLINICAL IMAGING
- Combined liver-kidney transplantation for primary hyperoxaluria type I in children: Single Center Experience
- (2018) Magd A. Kotb et al. PEDIATRIC TRANSPLANTATION
- Molecular basis of primary hyperoxaluria: clues to innovative treatments
- (2018) Mirco Dindo et al. Urolithiasis
- Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center
- (2017) Neveen A. Soliman et al. Nephrologie & Therapeutique
- AGXTGene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population
- (2015) Lamiae Boualla et al. Genetic Testing and Molecular Biomarkers
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria
- (2015) K. Hopp et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type
- (2014) Giorgia Mandrile et al. KIDNEY INTERNATIONAL
- A New Equation to Estimate Glomerular Filtration Rate
- (2013) Andrew S. Levey et al. ANNALS OF INTERNAL MEDICINE
- Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1
- (2013) Sonia Fargue et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Primary Hyperoxaluria
- (2013) NEW ENGLAND JOURNAL OF MEDICINE
- Characteristics and Outcomes of Children with Primary Oxalosis Requiring Renal Replacement Therapy
- (2012) J. Harambat et al. Clinical Journal of the American Society of Nephrology
- Calcium oxalate crystals induce renal inflammation by NLRP3-mediated IL-1β secretion
- (2012) Shrikant R. Mulay et al. JOURNAL OF CLINICAL INVESTIGATION
- Improved equations estimating GFR in children with chronic kidney disease using an immunonephelometric determination of cystatin C
- (2012) George J. Schwartz et al. KIDNEY INTERNATIONAL
- An update on primary hyperoxaluria
- (2012) Bernd Hoppe Nature Reviews Nephrology
- Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria
- (2011) Ibtihel Benhaj Mbarek et al. BMC Nephrology
- Primary hyperoxaluria type 1: update and additional mutation analysis of theAGXTgene
- (2009) Emma L. Williams et al. HUMAN MUTATION
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