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View article: Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway
Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway Open
View article: #720 SMART stone MDT and patient care recommendations: the nephrologist's role in optimizing the adult high-risk kidney stone patient pathway
#720 SMART stone MDT and patient care recommendations: the nephrologist's role in optimizing the adult high-risk kidney stone patient pathway Open
Background and Aims Kidney stone formers are at risk of loss of kidney function over time and have substantial morbidity as well as reduced quality of life (QoL) [1,2]. There is a need for earlier diagnosis, alongside metabolic investigati…
View article: Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologists
Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologists Open
Kidney Stone Disease (KSD) has a high prevalence (approximately 10%) and high recurrence risk: almost half of stone former patients will experience recurrence within 5–10 years. To date, KSD is managed mostly surgically with a heavy burden…
View article: Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported Open
Background Primary hyperoxaluria (PH), a rare autosomal recessive disease of oxalate accumulation in the kidneys, is caused by biallelic pathogenic changes in three known genes: AGXT (PH1), GRHPR (PH2) and HOGA1 (PH3). Methods To better un…
View article: Primary hyperoxaluria type 1 diagnosis in adult dialysis patients: prediction model assessment in a group of Italian patients
Primary hyperoxaluria type 1 diagnosis in adult dialysis patients: prediction model assessment in a group of Italian patients Open
View article: PLASMA GLYCOLATE LEVELS CONTRIBUTE TO DRIVE THE DECISION OF ISOLATED KIDNEY TRANSPLANTATION IN DIALYZED PATIENTS WITH END STAGE KIDNEY DISEASE DUE TO PRIMARY HYPEROXALURIA TYPE 1 TREATED WITH LUMASIRAN. A CASE REPORT
PLASMA GLYCOLATE LEVELS CONTRIBUTE TO DRIVE THE DECISION OF ISOLATED KIDNEY TRANSPLANTATION IN DIALYZED PATIENTS WITH END STAGE KIDNEY DISEASE DUE TO PRIMARY HYPEROXALURIA TYPE 1 TREATED WITH LUMASIRAN. A CASE REPORT Open
Primary hyperoxaluria Type 1 (PH1) is an inherited disease due to deficient activity of the liver enzyme AGT due to a mutation of the AGXT gene, leading to impairment in the glyoxylate metabolism with excessive oxalate urinary excretion (u…
View article: SMART Stone Multidisciplinary Team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway
SMART Stone Multidisciplinary Team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway Open
Purpose The SMART Stone Multidisciplinary Team (MDT) recommendations aim to provide guidance on the role of the MDT in the early identification, referral and assessment of adult high-risk recurrent kidney stone formers to advance patient c…
View article: COVID- 19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet
COVID- 19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet Open
View article: Effect of the allelic background on the phenotype of primary hyperoxaluria type I
Effect of the allelic background on the phenotype of primary hyperoxaluria type I Open
Purpose of review Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder of hepatic glyoxylate metabolism leading to nephrolithiasis and kidney failure. PH1 is caused by mutations on the AGXT gene encoding alanine:glyoxylate…
View article: COVID-19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet
COVID-19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet Open
Background Despite several publications covering patients from multiple centers, no international registry covered all patients with red blood cell diseases (RBCD) affected by COVID-19. The ERN-EuroBloodNet's registry provided real-time re…
View article: Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1
Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1 Open
View article: DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity Open
View article: Identification of the DNA methylation signature of Mowat-Wilson syndrome
Identification of the DNA methylation signature of Mowat-Wilson syndrome Open
Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency of ZEB2 , encoding a transcription factor required for neurodevelopment. MOWS is characterized by intellectual disability, epilepsy, typical facial phen…
View article: Clinical practice recommendations for primary hyperoxaluria: An expert consensus statement from ERKNet and OxalEurope
Clinical practice recommendations for primary hyperoxaluria: An expert consensus statement from ERKNet and OxalEurope Open
No abstract
View article: Commensal fungi and oxalate degradation: is there a link?
Commensal fungi and oxalate degradation: is there a link? Open
Oxalic acid is one of the most common low molecular weight organic acid produced by living organisms, which diversify however in their strategies of oxalate use and disposal (Smith, 2002).For instance, plants may accumulate oxalate intrace…
View article: A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis
A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis Open
Journal Article Corrected proof A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis Get access Pietro Manuel Ferraro, Pietro Manuel Ferraro Section of Nephrology, Università degli Studi di Verona, Italy Co…
View article: Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium Open
View article: Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes Open
View article: Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope Open
View article: Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype Open
View article: Skewed X-chromosome Inactivation in Unsolved Neurodevelopmental Disease Cases Can Guide Re-evaluation for X-linked Genes
Skewed X-chromosome Inactivation in Unsolved Neurodevelopmental Disease Cases Can Guide Re-evaluation for X-linked Genes Open
Despite major technical and genetic advances, more than half of the neurodevelopmental disorders (NDDs) cases remain undiagnosed. We explored the frequency of non-random XCI in the mothers of male patients and in affected females from a cl…
View article: Deleterious, protein-altering variants in the X-linked transcriptional coregulator <i>ZMYM3</i> in 22 individuals with a neurodevelopmental delay phenotype
Deleterious, protein-altering variants in the X-linked transcriptional coregulator <i>ZMYM3</i> in 22 individuals with a neurodevelopmental delay phenotype Open
Neurodevelopmental disorders (NDDs) often result from highly penetrant variation in one of many genes, including genes not yet characterized. Using the MatchMaker Exchange, we assembled a cohort of 22 individuals with rare, protein-alterin…
View article: Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus Open
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life‐threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority …
View article: First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE)
First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE) Open
The purpose of this best practice paper is to review the current recommendations for the identification and prenatal diagnosis of hemoglobinopathies. Methods: The management committee of SITE selected and gathered a multidisciplinary team …
View article: The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders Open
Background: Neurodevelopmental disorders comprise a clinically and genetically heterogeneous group of conditions that affect 2%–5% of children and represents a public health challenge due to complexity of the etiology. Only few patients wi…
View article: Genetic assessment in primary hyperoxaluria: why it matters
Genetic assessment in primary hyperoxaluria: why it matters Open
View article: Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry Open
View article: Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease
Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease Open
View article: Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry
Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry Open
View article: Review for "Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly"
Review for "Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly" Open