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Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH)

Journal of bone and mineral research, 2022-08, Vol.37 (8), p.1580-1591

2022

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Proteomics coupled transcriptomics reveals Slc34a1 and Slc34a3 downregulation as potential features of nephrotoxin-induced acute kidney injury

Journal of proteomics, 2024-06, Vol.302, p.105203, Article 105203

2024

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Orphanic hereditary hypophosphatemic rachit with hypercalciuria, nephrocalcinosis on account of mutation gene SLC34A3(Review and case report)

Nefrologii͡a, 2021-04, Vol.25 (3), p.52-60

2021

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Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy

Pflügers Archiv, 2019-01, Vol.471 (1), p.149-163

2019

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Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review

Calcified tissue international, 2024-02, Vol.114 (2), p.137-146

2024

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The SLC34 family of sodium-dependent phosphate transporters

Pflügers Archiv, 2014-01, Vol.466 (1), p.139-153

2014

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SLC34A3 GENE MUTATION AS A RARE CAUSE OF HYPOPHOSPHATEMIA IN TWO SIBLINGS

Acta endocrinologica (Bucharest, Romania : 2005), 2022-07, Vol.18 (3), p.387-391

2022

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Renal phosphate handling and inherited disorders of phosphate reabsorption: an update

Pediatric nephrology (Berlin, West), 2019-04, Vol.34 (4), p.549-559

2019

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Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c

Bone (New York, N.Y.), 2017-04, Vol.97, p.15-19

2017

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Does the composition of urinary extracellular vesicles reflect the abundance of renal Na+/phosphate transporters?

Pflügers Archiv, 2022-11, Vol.474 (11), p.1201-1212

2022

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Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets

Journal of Pediatric Endocrinology and Metabolism, 2021-05, Vol.34 (5), p.639-648

2021

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Fluconazole in hypercalciuric patients with increased 1,25(OH)2D levels: the prospective, randomized, placebo-controlled, double-blind FLUCOLITH trial

Trials, 2022-06, Vol.23 (1), p.499-499, Article 499

2022

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Fluconazole as a New Therapeutic Tool to Manage Patients With NPTIIc (SLC34A3) Mutation: A Case Report

American journal of kidney diseases, 2019-06, Vol.73 (6), p.886-889

2019

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Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria

BMC pediatrics, 2024-02, Vol.24 (1), p.121-121, Article 121

2024

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Overlapping Phenotypes Associated With CYP24A1 , SLC34A1 , and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D

Frontiers in endocrinology (Lausanne), 2021-10, Vol.12, p.736240-736240

2021

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Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case Series

Kidney medicine, 2022-03, Vol.4 (3), p.100419-100419, Article 100419

2022

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A RARE FORM OF HYPOPHOSPHATEMIC RICKETS DUE TO MUTATIONS IN THE SLC34A3 GENE: DIAGNOSIS AND TREATMENT PECULIARITIES

Pediatrija, 2018-12, Vol.97 (6), p.69-73

2018

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Identification of six novel variants from nine Chinese families with hypophosphatemic rickets

BMC medical genomics, 2022-07, Vol.15 (1), p.1-161, Article 161

2022

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The genetic polymorphisms of XPR1 and SCL34A3 are associated with Fanconi syndrome in Chinese patients of tumor-induced osteomalacia

Journal of endocrinological investigation, 2021-04, Vol.44 (4), p.773-780

2021

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Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting

Urolithiasis, 2019-12, Vol.47 (6), p.511-519

2019

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Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone

Therapeutic advances in musculoskeletal disease, 2020, Vol.12, p.1759720

2020

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Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred

Bone (New York, N.Y.), 2012-05, Vol.50 (5), p.1100-1106

2012

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Differential regulation of the renal sodium-phosphate cotransporters NaPi-IIa, NaPi-IIc, and PiT-2 in dietary potassium deficiency

American journal of physiology. Renal physiology, 2009-08, Vol.297 (2), p.F350-F361

2009

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SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria

Journal of clinical research in pediatric endocrinology, 2018-12, Vol.10 (4), p.343-349

2018

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Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH)

Proteomics coupled transcriptomics reveals Slc34a1 and Slc34a3 downregulation as potential features of nephrotoxin-induced acute kidney injury

Orphanic hereditary hypophosphatemic rachit with hypercalciuria, nephrocalcinosis on account of mutation gene SLC34A3(Review and case report)

An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy

Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review

The SLC34 family of sodium-dependent phosphate transporters

SLC34A3 GENE MUTATION AS A RARE CAUSE OF HYPOPHOSPHATEMIA IN TWO SIBLINGS

Renal phosphate handling and inherited disorders of phosphate reabsorption: an update

Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c

Does the composition of urinary extracellular vesicles reflect the abundance of renal Na+/phosphate transporters?

Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets

Fluconazole in hypercalciuric patients with increased 1,25(OH)2D levels: the prospective, randomized, placebo-controlled, double-blind FLUCOLITH trial

Fluconazole as a New Therapeutic Tool to Manage Patients With NPTIIc (SLC34A3) Mutation: A Case Report

Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria

Overlapping Phenotypes Associated With CYP24A1 , SLC34A1 , and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D

Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case Series

A RARE FORM OF HYPOPHOSPHATEMIC RICKETS DUE TO MUTATIONS IN THE SLC34A3 GENE: DIAGNOSIS AND TREATMENT PECULIARITIES

Identification of six novel variants from nine Chinese families with hypophosphatemic rickets

The genetic polymorphisms of XPR1 and SCL34A3 are associated with Fanconi syndrome in Chinese patients of tumor-induced osteomalacia

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting

Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone

Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred

Differential regulation of the renal sodium-phosphate cotransporters NaPi-IIa, NaPi-IIc, and PiT-2 in dietary potassium deficiency

SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria

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