Disease: Fanconi renotubular syndrome
- <em>MFSD12</em> depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis
- <em>Nlrp2</em> deletion ameliorates kidney damage in a mouse model of cystinosis
- A 57-Year-Old Female Presenting With Cardiopulmonary Arrest Secondary to Severe Hypokalemia From a Fanconi-Like Syndrome: A Case Report
- A case of ifosfamide-induced acute kidney injury, Fanconi syndrome, and nephrogenic diabetes insipidus
- A naturally occurring canine model of syndromic congenital microphthalmia
- A new Fanconi anemia-like disorder, aldehyde degradation deficiency syndrome: two defense mechanisms working together for the genome and hematopoiesis
- A Review of the Repair of DNA Double Strand Breaks in the Development of Oral Cancer
- Acquired disorders of phosphaturia: Beyond tumor-induced osteomalacia
- Acute kidney injury in critical COVID-19 patients: usefulness of urinary biomarkers and kidney proximal tubulopathy
- Adult-onset hypophosphatemic osteomalacia as a cause of widespread musculoskeletal pain: A retrospective case series of single center experience
- An Infant Case of Transient Distal Renal Tubular Acidosis and Fanconi Syndrome Caused by Rotavirus Gastroenteritis
- Atypical presentation of Pearson syndrome in an infant with suspected myelodysplastic syndrome
- Band-shaped keratopathy in <em>HNF4A</em>-related Fanconi syndrome: a case report and review of the literature
- Band-shaped keratopathy in HNF4A-related Fanconi syndrome: a case report and review of the literature
- Bone Marrow Failure
- Burden of Paediatric Kidney Diseases in a Tertiary Care Hospital in Harare, Zimbabwe
- Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype
- Case Report: Multisystem inflammatory syndrome in children with associated proximal tubular injury
- Case report: The evolving phenotype of <em>ESCO2</em> spectrum disorder in a 15-year-old Malaysian child
- Chronic bromine intoxication complicated with Fanconi syndrome: A case report
- Clinical Practice Guidelines for the Diagnosis and Management of Hereditary Fructose Intolerance
- Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome
- Clinicopathologic Spectrum of Lysozyme-Associated Nephropathy
- Corrigendum: Case report: Multisystem inflammatory syndrome in children with associated proximal tubular injury
- Counselling Framework for Germline <em>BRCA1/2</em> and <em>PALB2</em> Carriers Considering Risk-Reducing Mastectomy
- Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)
- Delayed Irreversible Fanconi Syndrome Associated With Vertebral Fracture After Tenofovir Discontinuation
- Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement
- Diagnostic accuracy of <sup>99m</sup>Tc-HYNIC-TOC SPECT/CT for detecting osteomalacia-associated tumors
- Drug discovery and therapeutic perspectives for proximal tubulopathies
- Drug-related hypophosphatemia: Descriptive study and case/non-case analysis of the French national pharmacovigilance database
- Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review
- Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes
- Exploring the Impact of Blood Disorders on Dental Caries
- Extrarenal complications of cystinosis
- FANCA deficiency promotes leukaemic progression by allowing the emergence of cells carrying oncogenic driver mutations
- Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage
- Fanconi Anemia Neuroinflammatory Syndrome (FANS): Brain Lesions and Neurologic Injury in Fanconi Anemia
- Fanconi Syndrome
- Fanconi Syndrome in Patients With Human Immunodeficiency Virus Treated With Tenofovir-Based Antiretroviral Therapy: A Systematic Literature Review
- Fanconi syndrome induced by the long-term use of tenofovir disoproxil fumarate: a case report and literature review
- Fanconi syndrome with hepatorenal karyomegaly in a young Sphynx cat
- Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects
- Genetic analysis of PALB2 gene WD40 domain in canine mammary tumour patients
- Hepatic adenoma in a 7-year-old girl: a case report and literature review
- HLA-haploidentical stem cell transplantation in children with inherited bone marrow failure syndromes: A retrospective analysis on behalf of EBMT severe aplastic Anemia and pediatric diseases working parties
- Identification of a robust DNA methylation signature for Fanconi anemia
- Identifying an AML Prognostic Model Using 10 Marker Genes from Single-Cell Transcriptome and Bulk Transcriptome Analysis
- Identifying potential biological processes and key targets in COVID-19-associated heart failure
- Ifosfamide-induced nephrotoxicity in oncological patients
- Impact of compliance to oral cysteamine treatment on the costs of Kidney failure in patients with nephropathic cystinosis in the United Kingdom
- Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome
- Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia
- Inherited non-FGF23-mediated phosphaturic disorders: A kidney-centric review
- Kidney involvement in Wilson's disease: a review of the literature
- LINE-1: an emerging initiator of cGAS-STING signalling and inflammation that is dysregulated in disease
- Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman
- Lysosomal cystine accumulation activates mTOR signaling in cystinosis: are mTOR inhibitors the cure?
- Management of intraoperative periprosthetic fractures in a patient with osteomalacia induced by chronic use of adefovir dipivoxil: A good treatment outcome with a 5-year follow-up
- Mannich Base PIP-199 Is a Chemically Unstable Pan-Assay Interference Compound
- Mitochondrial Dysfunction in Kidney Tubulopathies
- Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study
- Moyamoya Disease in a Child With Fanconi Anemia: An Anomaly or a Complication
- Neuroprotective effects of daidzein against ifosfamide-induced neurotoxicity in male rats: role of selected inflammatory and apoptotic markers
- Newly Recognized Genetic Tumor Syndromes of the CNS in the 5th WHO Classification: Imaging Overview with Genetic Updates
- Occurrence of Fatal Tubulopathy in an Old, Fit Patient Receiving Nivolumab and Ipilimumab for Metastatic Melanoma: A Case Report
- Oculocerebrorenal Syndrome
- Osteomalacia induced by chronic use of adefovir dipivoxil associated with intraoperative periprosthetic fractures: A case report and 5-year follow up
- Overview of Antibiotic-Induced Nephrotoxicity
- p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes
- Pattern of hereditary renal tubular disorders in Egyptian children
- Pediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review
- Posttransplant complications in patients with marrow failure syndromes: are we improving long-term outcomes?
- Presentation and Management of Acute Mania in Fanconi-Bickel Syndrome, A Metabolic Genetic Disorder
- Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations
- Renal Fanconi syndrome and hypoglycemia: lessons for clinical nephrologists
- Renal histology of Fanconi syndrome associated with adefovir dipivoxil: A case report
- Renal transplantation for infantile and juvenile cystinosis: Two case report and review of the literature
- Research progress of the Fanconi anemia pathway and premature ovarian insufficiency
- Research progress of the Fanconi anemia pathway and premature ovarian insufficiency†
- Role of the mechanisms for antibody repertoire diversification in monoclonal light chain deposition disorders: when a friend becomes foe
- Role of the SLC22A17/lipocalin-2 receptor in renal endocytosis of proteins/metalloproteins: a focus on iron- and cadmium-binding proteins
- Severe skeletal damage suggesting neoplastic disease as a manifestation of tenofovir-induced Fanconi syndrome in chronic hepatitis B
- Severe skeletal damage suggesting neoplastic disease as a picture of tenofovir-induced Fanconi syndrome in chronic hepatitis B
- Siblings With <em>HNF4A</em> Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism
- Successful autologous stem cell transplantation for light chain proximal tubulopathy with severe kidney injury
- Suspicion of constitutional abnormality at diagnosis of childhood leukemia: Update of the leukemia committee of the French Society of Childhood Cancers
- Systemic lupus erythematosus complicated with Fanconi syndrome: a case report and literature review
- T-cell depleted allogeneic hematopoietic stem cell transplant for the treatment of Fanconi anemia and MDS/AML
- Tenofovir-Induced Fanconi Syndrome Presenting with Life-Threatening Hypokalemia: Review of the Literature and Recommendations for Early Detection
- The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis
- The onset and progression of oral potentially malignant disorders in Fanconi anemia patients: Highlighting early detection of oral cancer
- The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI
- To determine the frequency of aldehyde dehydrogenase type 2 (aldh2) deficiency in aplastic anaemia: A single center experience from pakistan
- Tubulointerstitial nephritis and uveitis (TINU) syndrome: a report of 6 cases with renal biopsy and electron microscopy evaluation
- Tubulointerstitial Nephritis and Uveitis Syndrome: A Report of 6 Cases with Renal Biopsy and Electron Microscopy Evaluation
- Two cases of cytopenia associated with multiple malformations
- When Two Syndromes Collide: Managing Fanconi and Refeeding Syndrome in a Single Patient
- World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective
- Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective