Disease: Nephrocalcinosis
- A Case of Delayed Diagnosis of Idiopathic Infantile Hypercalcemia Due to CYP24A1 Mutation: A 10-Year Journey
- A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants
- A Novel <em>CDC73</em> Gene Mutation in Hyperparathyroidism Jaw Tumor Syndrome Associated With Ectopic-pelvic Kidney
- A novel likely pathogenic CLCN5 variant in Dent's disease
- A Novel Mutation in the <em>INSR</em> Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient
- Apparent Mineralocorticoid Excess in Israel: A Case Series and Literature Review
- Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO<sub>2</sub> test be normal?
- Autosomal dominant hypercalciuric hypocalcaemia: the calcium-sensing receptor in renal calcium homeostasis and the impact of renal transplantation
- Bartter Syndrome Type 1 Due to Novel <em>SLC12A1</em> Mutations Associated With Pseudohypoparathyroidism Type II
- Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia
- Bone health in children with primary hyperoxaluria type 1 following liver and kidney transplantation
- Brown tumor due to primary hyperparathyroidism in a familial case: a case report
- Burosumab: Current status and future prospects
- Case Report: effect of lumasiran treatment in a late preterm baby with antenatal diagnosis of primary hyperoxaluria type 1
- Case report: Enamel renal syndrome: a case series from sub-Saharan Africa
- Characterization of pre-mRNA Splicing Defects Caused by <em>CLCN5</em> and <em>OCRL</em> Mutations and Identification of Novel Variants Associated with Dent Disease
- Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases
- Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience
- Clinical outcomes of nephrocalcinosis in preschool-age children: association between nephrocalcinosis improvement and long-term kidney function
- Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome
- Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study
- Cystic pulmonary tuberculosis in a child with medullary nephrocalcinosis: A rare association
- Delayed Diagnosis of Primary Hyperparathyroidism: A Case Report
- Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents
- Detailed Nephro-urological Management of a Case of Medullary Sponge Kidney with Distal Renal Tubular Acidosis and Obstructive Uropathy
- Detection of nephrocalcinosis using ultrasonography, micro-computed tomography, and histopathology in cats
- Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium
- Diet-induced nephrocalcinosis in aquarium-raised juvenile spotted wolffish Anarhichas minor
- Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients
- Distal renal tubular acidosis as a rare complication of vesicoureteral reflux in children: a case report and literature review
- Distinguishing characteristics of pediatric patients with primary hyperoxaluria type 1 in PEDSnet
- Enamel Renal Gingival Syndrome in an Adolescent
- Enamel Renal Gingival Syndrome: A Rare Form of Dystrophic Gingival Calcification with Nephrocalcinosis
- Etiology and prognosis of nephrocalcinosis according to gestational age in Korean children
- Expanding the Genetic Spectrum of <em>AGXT</em> Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I
- Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series
- Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome
- Familial hypomagnesemia with hipercalciuria and nephrocalcinosis associated with sensorineural hearing loss
- Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria
- First Reported Case of a Pyrophosphate Kidney Stone in a Human
- Genotype-Phenotype correlation of distal renal tubular acidosis in Tunisia
- Glomerulocystic kidney in two red piranhas Pygocentrus nattereri
- Hydrangea-like Nephrocalcinosis in Sjögren's syndrome
- Hypercalcemia in an Infant with Primary Hyperoxaluria Type 2: A Novel Association
- Hyperparathyroidism Jaw Tumor Syndrome, an Unforeseen Diagnosis
- Hypervitaminosis D Secondary to a <em>CYP24A1</em> Loss-of-Function Mutation: An Unusual Cause of Hypercalcemia in Two Siblings
- Hypovitaminosis D masking hypercalcemia in primary hyperparathyroidism: case report
- Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Fa
- Improvement in Tubulointerstitial Nephritis With Glucocorticoid Therapy in an Anorexia Nervosa Patient
- In vivo base editing rescues primary hyperoxaluria type 1 in rats
- In vivo treatment with calcilytic of CaSR knock-in mice ameliorates renal phenotype reversing downregulation of the vasopressin-AQP2 pathway
- Incident comorbidities in patients with chronic hypoparathyroidism after thyroidectomy: a multicenter nationwide study
- Incomplete distal renal tubular acidosis uncovered during pregnancy: A case report
- Increased risk of nephrolithiasis: an emerging issue in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Initiation of Continuous rhPTH Infusion With Insulin Pump in an Inpatient Setting
- Isolation and characterization of exosome-enriched urinary extracellular vesicles from Dent's disease type 1 Spanish patients
- Kidney involvement in Wilson's disease: a review of the literature
- Kidney manifestations of pediatric Sjögren's syndrome
- Kidney manifestations of sarcoidosis
- Late Diagnosis of Primary Hyperoxaluria in an Adult Patient With End-Stage Renal Disease and Bicytopenia
- Leishmania spp. diagnosis and therapeutic management in a cat from urban area in Ibagué (Colombia)
- Lumasiran: A Review in Primary Hyperoxaluria Type 1
- Management of hypoparathyroidism: a Position Statement of the Expert Group of the Polish Society of Endocrinology
- Metabolomics of Plasma in XLH Patients with Arterial Hypertension: New Insights into the Underlying Mechanisms
- Molecular mechanism of Rhizoma Polygonati in the treatment of nephrolithiasis: network pharmacology analysis and in vivo experimental verification
- Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1
- Multiplex gene editing reduces oxalate production in primary hyperoxaluria type 1
- Nephrocalcinosis can disappear in infants receiving early lumasiran therapy
- Nephrocalcinosis fortuitously discovered: the role of surreptitious self administration of diuretics
- Nephrocalcinosis in a Transplanted Kidney: A New Sign of Chronic Tacrolimus Nephrotoxicity
- Nephrocalcinosis in Neonates
- Nephrolithiasis associated to Nephrocalcinosis is Primarily Composed of Carbonate Apatite
- Nephrolithiasis Associated with Nephrocalcinosis Is Primarily Composed of Carbonate Apatite
- New Mutation of CYP24A1 in a Case of Idiopathic Infantile Hypercalcemia Diagnosed in Adulthood
- Novel Variant of <em>SLC34A3</em> in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria
- Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of <em>SLC34A1</em> and <em>CYP24A1</em>
- Primary hyperoxaluria type 1-a rare hereditary metabolic disorder as cause of livedo racemosa
- Primary hyperoxaluria type 1: Clinical, genetic, and evolutionary characteristics in Tunisian children
- Primary hyperoxaluria: a case series
- Real-world data of Brazilian adults with X-linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts
- Recurrent Urolithiasis Revealing Primary Hyperparathyroidism in a Nephrology Department
- Renal calcification in children with renal tubular acidosis: What a paediatrician should know
- Renal complications in chronic hypoparathyroidism - a systematic cross-sectional assessment
- Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy
- Renal tubular estrogen ß receptors are expressed at high levels in small vessel vasculitis and are primarily localized in the distal tubule
- Review of childhood genetic nephrolithiasis and nephrocalcinosis
- Risk factors and implications associated with ultrasound-diagnosed nephrocalcinosis in cats with chronic kidney disease
- Shorter telomere length increases the risk of lymphocyte immunodeficiency: A Mendelian randomization study
- Sirtuin1 inhibits calcium oxalate crystal-induced kidney injury by regulating TLR4 signaling and macrophage-mediated inflammatory activation
- Sub-acute toxicity evaluation of aqueous leaf extract from <em>Passiflora edulis Sims f. edulis</em> (Gulupa) in Wistar rats
- Surgical management of neonatal severe hyperparathyroidism
- The diagnostic odyssey in children and adolescents with X-linked hypophosphataemia: population-based, case-control study
- The evolution of primary hyperparathyroidism publications and global productivity from past to present: A bibliometric analysis during 1980 to 2022
- The Role of Genetic Testing in Pediatric Renal Diseases: Diagnostic, Prognostic, and Social Implications
- Transient Hyperechogenic Medullary Pyramids in a Neonate With Acute Kidney Injury
- Tuberous Sclerosis Complex with Renal Stones and Distal Renal Tubular Acidosis: Case Report and Literature Review
- Unraveling the Molecular Landscape of kAE1: A Narrative Review
- Unusual Manifestation of Mercuric Chloride Poisoning as Intratubular Nephrocalcinosis - A Rare Case Report
- Urinary Acidification Does Not Explain the Absence of Nephrocalcinosis in a Mouse Model of Familial Hypomagnesaemia with Hypercalciuria and Nephrocalcinosis (FHHNC)
- When to suspect infantile hypercalcemia-1?