Research By Disease – CheckOrphan

Disease: Bonneau-Beaumont syndrome

CD147 rs8259T>A Variant Confers Susceptibility to COVID-19 Infection within the Mexican Population
1-Year Incidence of Tuberculosis Infection and Disease Among Household Contacts of Rifampin- and Multidrug-Resistant Tuberculosis
A case of iron deficiency anemia with extremely hyperferritinemia responds well to oral iron: the first identified hereditary hyperferritinemia cataract syndrome in China
A child with hyperferritinemia: case report
A new family with hereditary hyperferritinemia cataract syndrome
A novel deletion in the iron-response element of the L-ferritin gene, causing hyperferritinaemia cataract syndrome
A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome
A rare cause of hyperferritinemia without iron overload
A Review of the Role of Natural Products as Treatment Approaches for Xerostomia
Abdominal Obesity in Women with Polycystic Ovary Syndrome and Its Relationship with Diet, Physical Activity and Insulin Resistance: A Pilot Study
Acute Coronary Syndrome Presenting during On- and Off-Hours: Is There a Difference in a Tertiary Cardiovascular Center?
Age-dependent ocular phenotype in hereditary hyperferritinaemia cataract syndrome (HHCS)
An Insight on the Possible Association between Inflammatory Bowel Disease and Biologic Therapy with IL-17 Inhibitors in Psoriasis Patients
Analysis of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferinemia cataract syndrome
Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome
Biodegradation of Uric Acid by Bacillus paramycoides-YC02
Brazilian family with hyperferritinemia-cataract syndrome: case report
Cardiac Arrest as an Uncommon Manifestation of Late Type A Aortic Dissection Associated with Transcatheter Aortic Valve Replacement
Changes in the Epidemiology of Rubella: The Influence of Vaccine-Introducing Methods and COVID-19
Cinnamyl-Modified Polyglycidol/Poly(ε-Caprolactone) Block Copolymer Nanocarriers for Enhanced Encapsulation and Prolonged Release of Cannabidiol
Comorbidities of COVID-19 Patients
Computational evaluation of quinones of Nigella sativa L. as potential inhibitor of dengue virus NS5 methyltransferase
Cough Characteristics and Their Association Patterns According to Cough Etiology: A Network Analysis
Efficiency of Chitosan Nanocarriers in Vaccinology for Mucosal Immunization
Elevated serum ferritin level with cataract of spectacular morphology: Hyperferritinemia-cataract syndrome
Evaluation of Rapid Multiplex Reverse Transcription-Quantitative Polymerase Chain Reaction Assays for SARS-CoV-2 Detection in Individual and Pooled Samples
Family with marked hyperferritinemia as a result of hemochromatosis type 4 (ferroportin disease)
Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review
Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome
Ferroportin Q248H mutation, hyperferritinemia and atypical type 2 diabetes mellitus in South Kivu
Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G
FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family
FTL gene mutation and persistent hyperferritinemia without iron deficiency anemia after phlebotomy
Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome
Genomic Surveillance of SARS-CoV-2 in Malaysia during the Era of Endemic COVID-19
Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families
Growth and Photosynthetic Efficiency of Microalgae and Plants with Different Levels of Complexity Exposed to a Simulated M-Dwarf Starlight
Gut Microbiota and Critically Ill Patients: Immunity and Its Modulation via Probiotics and Immunonutrition
Hematologic biomarkers in childhood cataracts
Hereditary hyperferritinaemia cataract syndrome
Hereditary hyperferritinaemia-cataract syndrome (HHCS) - an underestimated condition: ferritin light chain variant spectrum in German families
Hereditary hyperferritinemia cataract syndrome
Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia
Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene
Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases
Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a Swiss family
Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families
Hereditary hyperferritinemia-cataract syndrome. Unusual differential diagnosis of unexplainable high levels of ferritin
Hybrid Immunity Provides the Best COVID-19 Humoral Response in Immunocompromised Patients with or without SARS-CoV-2 Infection History
Hyperferritinaemia and macrophage activation in a patient with interstitial lung disease with clinically amyopathic DM
Hyperferritinemia and inflammation
Hyperferritinemia cataract syndrome
Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family
Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study
Hyperferritinemic syndrome: Still's disease and catastrophic antiphospholipid syndrome triggered by fulminant Chikungunya infection: a case report of two patients
Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family
Ileal Dysbiosis Is Associated with Increased Acoustic Startle in the 22q11.2 Microdeletion Mouse Model of Schizophrenia
Impact of Persistent Inflammation, Immunosuppression, and Catabolism Syndrome during Intensive Care Admission on Each Post-Intensive Care Syndrome Component in a PICS Clinic
Insights into Nutritional Strategies in Psoriasis
Intermittent Fasting and Its Effects on Weight, Glycemia, Lipids, and Blood Pressure: A Narrative Review
Iron deficiency anaemia and cataracts in a patient with haemochromatosis
Low-Calorie Ketogenic Diet: Potential Application in the Treatment of Polycystic Ovary Syndrome in Adolescents
Metabolic Associated Fatty Liver Disease (MAFLD) and COVID-19 Infection: An Independent Predictor of Poor Disease Outcome?
Native Aortic Root Thrombosis in Hypoplastic Left Heart Syndrome: An Unusual Presentation (Soon after Atrial Septal Stenting) of a Relatively Unusual Complication-Experience and Literature Review with an Outlook to Diagnosis and Management
New mutation in a Spanish family with hereditary hyperferritinemia-cataract syndrome
Non-HFE hemochromatosis: pathophysiological and diagnostic aspects
Novel Anti-Inflammatory Therapies in Coronary Artery Disease and Acute Coronary Syndromes
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
Nutrition, Physical Activity and Supplementation in Irritable Bowel Syndrome
Pharmacological and Electroceutical Targeting of the Cholinergic Anti-Inflammatory Pathway in Autoimmune Diseases
Predictive factors of occult cystobiliary fistulas during conservative treatment of hepatic hydatid cyst: a prospective study
Predictive Factors of the Use of Rituximab and Belimumab in Spanish Lupus Patients
Protective Efficacy of a Candidate Live-Attenuated Vaccine Derived from the SD-R Strain against NADC34-like Porcine Reproductive and Respiratory Syndrome Virus
Protective Role of Vitamin K3 on SARS-CoV-2 Structural Protein-Induced Inflammation and Cell Death
Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload
Relationship between the Cycle Threshold Value (Ct) of a Salmonella spp. qPCR Performed on Feces and Clinical Signs and Outcome in Horses
Role of Functional Neuroimaging with 123I-MIBG and 123I-FP-CIT in De Novo Parkinson's Disease: A Multicenter Study
Rotavirus Vaccination of Premature Newborns in the NICU: Evaluation of Vaccination Rates and Safety Based on a Single-Centre Study
Sarcoidosis-Associated Sensory Ganglionopathy and Harlequin Syndrome: A Case Report
SARS-CoV-2 Vaccine Uptake among Patients with Chronic Liver Disease: A Cross-Sectional Analysis in Hebei Province, China
Sequence analysis of exon 1 of the ferritin light chain (FTL) gene can reveal the rare disorder 'hereditary hyperferritinaemia without cataracts'
Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis
The Effect of Synbiotic Supplementation on Uremic Toxins, Oxidative Stress, and Inflammation in Hemodialysis Patients-Results of an Uncontrolled Prospective Single-Arm Study
The Effects of Agave Fructans in a Functional Food Consumed by Patients with Irritable Bowel Syndrome with Constipation: A Randomized, Double-Blind, Placebo-Controlled Trial
The Effects of Vaccines on the Sequelae Rates of Recurrent Infections and the Severity of Pulmonary COVID-19 Infection by Imaging
The hyperferritinemic syndrome: macrophage activation syndrome, Still's disease, septic shock and catastrophic antiphospholipid syndrome
The Importance of Left Ventricular Outflow Tract and Mid-Ventricular Gradients in Stress Echocardiography: A Narrative Review
The Indicator of Emotional Eating and Its Effects on Dietary Patterns among Female Students at Qassim University
The Protective Efficacy of Single-Dose Nasal Immunization with Cold-Adapted Live-Attenuated MERS-CoV Vaccine against Lethal MERS-CoV Infections in Mice
The Role of Chronic Fatigue in Patients with Crohn's Disease
The Use of an Inspiration-Synchronized Vibrating Mesh Nebulizer for Prolonged Inhalative Iloprost Administration in Mechanically Ventilated Patients-An In Vitro Model
The Use of CBD and Its Synthetic Analog HU308 in HIV-1-Infected Myeloid Cells
Tocilizumab Is Associated with Increased Risk of Fungal Infections among Critically Ill Patients with COVID-19 and Acute Renal Failure: An Observational Cohort Study
Transgenic Microalgae Expressing Double-Stranded RNA as Potential Feed Supplements for Controlling White Spot Syndrome in Shrimp Aquaculture
Tuberculosis-Associated Hemophagocytic Lymphohistiocytosis: A Review of Current Literature
Type I Interferon Pathway-Related Hub Genes as a Potential Therapeutic Target for SARS-CoV-2 Omicron Variant-Induced Symptoms
Ultrasonography for Eating and Swallowing Assessment: A Narrative Review of Integrated Insights for Noninvasive Clinical Practice
Unexpected Adverse Events of Immune Checkpoint Inhibitors