Disease: Fanconi Bickel 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 acute kidney injury and Fanconi syndrome while taking multiple supplements, including Red Yeast Rice Cholesterol Help()
- A case of Fanconi syndrome that developed following a year of consumption of a red yeast rice supplement
- A female patient with Dent disease due to skewed X-chromosome inactivation
- A naturally occurring canine model of syndromic congenital microphthalmia
- A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: <em>RASA3</em>
- A Nutrigenomic View on the Premature-Aging Disease Fanconi Anemia
- A Rare Case Report of Fanconi Anemia-Associated Nuclease 1 Mutation Causing Nephrotic Syndrome
- A review of renal tubular acidosis
- A Review of the Repair of DNA Double Strand Breaks in the Development of Oral Cancer
- Acquired disorders of phosphaturia: Beyond tumor-induced osteomalacia
- Acquired Fanconi syndrome in mixed cryoglobulinemia patients: a single-center case series
- 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
- ALDH2 mutations and defense against genotoxic aldehydes in cancer and inherited bone marrow failure syndromes
- An Interesting Case of Acquired Renal Fanconi Syndrome
- Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia
- Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency
- Bone Marrow Failure
- Canine adipose tissue-derived mesenchymal stem cell therapy in a dog with renal Fanconi syndrome
- Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype
- 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
- Clinicopathological features and outcomes of PLA2R-related membranous nephropathy with renal glycosuria
- Complex phenotype in Fanconi renotubular syndrome type 1: Hypophosphatemic rickets as the predominant presentation
- Concurrent Crystalline Light-Chain Proximal Tubulopathy and Membranous Nephropathy: A Case Report and Literature Review
- Consenso mexicano de tirosinemia tipo 1
- Correction to: A case of acute kidney injury and Fanconi syndrome while taking multiple supplements, including Red Yeast Rice Cholesterol Help()
- Correction to: Fanconi syndrome with karyomegalic interstitial nephritis after ifosfamide treatment for osteosarcoma: a case report
- 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)
- Decreased spermatogonial numbers in boys with severe haematological diseases
- Delayed Irreversible Fanconi Syndrome Associated With Vertebral Fracture After Tenofovir Discontinuation
- Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement
- Exploring the Impact of Blood Disorders on Dental Caries
- Extrarenal complications of cystinosis
- Failure to Thrive With Severe Hypokalemia Yields Cystinosis Diagnosis in a 19-Month-Old Female Child: A Case Report
- Fanconi Anemia Neuroinflammatory Syndrome (FANS): Brain Lesions and Neurologic Injury in Fanconi Anemia
- Fanconi anemia neuroinflammatory syndrome: brain lesions and neurologic injury in Fanconi anemia
- Fanconi Anemia, AML, and MDS
- Fanconi Syndrome
- Fanconi syndrome with karyomegalic interstitial nephritis after ifosfamide treatment for osteosarcoma: a case report
- Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline
- From Rare Disorders of Kidney Tubules to Acute Renal Injury: Progress and Prospective
- 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
- Hepatocellular Adenoma
- 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
- Identifying an AML Prognostic Model Using 10 Marker Genes from Single-Cell Transcriptome and Bulk Transcriptome Analysis
- 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
- Integrated proteogenomic analysis for inherited bone marrow failure syndrome
- Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis
- Kidney involvement in Wilson's disease: a review of the literature
- Latent metabolic bone disease, skeletal dysplasia and other conditions related to low bone formation among 38 patients with subtrochanteric femoral fractures: a retrospective observational study
- Long-term effects of luteolin in a mouse model of nephropathic cystinosis
- Long-term Evolution of Hypophosphatemia and Osteomalacia in a Patient With Multiple Myeloma
- Lysosomal cystine accumulation activates mTOR signaling in cystinosis: are mTOR inhibitors the cure?
- Mitochondrial Dysfunction in Kidney Tubulopathies
- Monoclonal immunoglobulin crystalline nephropathies
- 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
- Occurrence of Fatal Tubulopathy in an Old, Fit Patient Receiving Nivolumab and Ipilimumab for Metastatic Melanoma: A Case Report
- Oculocerebrorenal Syndrome
- Outcome of Hematopoietic Stem Cell Transplantation in 813 Pediatric Patients with Fanconi Anemia
- Overview of Antibiotic-Induced Nephrotoxicity
- 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
- Recurrent acute kidney injury with Fanconi syndrome related to red yeast rice supplement
- Recurrent Fanconi Syndrome Induced by Lenalidomide: A Case Report
- Renal Disease in Monoclonal Gammopathies
- Renal histology of Fanconi syndrome associated with adefovir dipivoxil: A case report
- Renal impairment in monoclonal gammopathies and multiple myeloma
- Renal Impairment of Proximal Tubular Injury Caused by Red Yeast Rice Supplement: Report of 2 Cases
- Renal transplantation for infantile and juvenile cystinosis: Two case report and review of the literature
- Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin
- Research progress on the fanconi anemia signaling pathway in non-obstructive azoospermia
- Safety of tenofovir alafenamide in people with HIV who experienced proximal renal tubulopathy on tenofovir disoproxil
- 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
- Tenofovir alafenamide compared to tenofovir disoproxil fumarate, induces dysglycemia, and dyslipidemia in Wistar rats
- Tenofovir induced Fanconi syndrome in a middle age African female from Kenya, East Africa: Case report and brief literature review
- The onset and progression of oral potentially malignant disorders in Fanconi anemia patients: Highlighting early detection of oral cancer
- To determine the frequency of aldehyde dehydrogenase type 2 (aldh2) deficiency in aplastic anaemia: A single center experience from pakistan
- Tumor-Induced Osteomalacia due to Sarcomatoid Non-Small Cell Lung Carcinoma Confounded by Drug-Induced Fanconi Syndrome
- Two cases of cytopenia associated with multiple malformations
- Updates on germline predisposition in pediatric hematologic malignancies: What is the role of flow cytometry?
- When Two Syndromes Collide: Managing Fanconi and Refeeding Syndrome in a Single Patient