Anemia drepanocítica, drepanocitose ou anemia falciforme é uma doença hematológica hereditária monogénica, caracterizada pela produção anormal de hemoglobinas, entre as quais a mais comum é a forma HbS, que sob determinadas condições de desoxigenação, polimeriza, deformando as hemácias, que assumem uma forma semelhante a foices, causando deficiência no transporte de oxigénio e gás carbónico e outras complicações, nos indivíduos acometidos pela doença. Por esse motivo, a anemia drepanocítica é também conhecida por anemia falciforme. Do ponto de vista patogenético, está classificada entre as anemias por "defeito da síntese de hemoglobina", a proteína que transporta oxigénio presente nos glóbulos vermelhos, embora a anemia seja em parte determinada pela hemólise esplénica.
Introdução
O que você precisa saber de cara
Doença genética rara que causa deformação dos glóbulos vermelhos em forma de foice, levando a dor intensa, danos a órgãos e anemia crônica.
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Iron overload damages mitochondria and induces metabolic rewiring of hematopoietic stem cells towards glycolysis.
Iron is an essential element for most cellular processes and recent evidence highlighted its role in regulating the function of hematopoietic stem cells (HSCs). Abnormal iron levels impact HSC quiescence and self-renewal, however, the mechanism by which iron overload (IO) influences HSC function is still unknown. Here, we show that intracellular IO impairs mitochondrial fitness and bioenergetics, inducing metabolic rewiring. In thalassemic mice, as a model of chronic IO, HSCs accumulate mitochondria with elevated reactive oxygen species (mtROS), low membrane potential and reduced oxidative phosphorylation (OXPHOS). Mitochondrial defects are confirmed in other two models of IO, sickle cell disease and iron-loaded wild-type mice, and in vivo iron reduction rescues HSC mitochondria. IO HSCs are highly proliferating and in presence of damaged mitochondria rely on glycolysis for energy production. Notably, restoration of mitochondrial function by targeting in vivo mtROS improved the quiescence and self-renewal of IO HSCs. Our results unravel the critical interplay between iron, ROS and mitochondrial activity in HSCs, revealing that IO shapes HSC metabolic programs.
Cystic Fibrosis and Sickle Cell Disease Associated with Non-administration of VTE Prophylaxis in Hospitalized Adults.
Cystic fibrosis (CF) and sickle cell disease (SCD) are associated with increased risk of venous thromboembolism (VTE), and this risk is exacerbated by hospitalization. VTE prophylaxis non-administration is a VTE risk factor. The objective of this study was to characterize VTE prophylaxis non-administration among patients with either CF or SCD compared to medically ill patients without CF or SCD. We conducted a single-center retrospective cohort study of hospitalized patients who were prescribed at least 2 doses of pharmacologic VTE prophylaxis. The primary outcome was the proportion of non-administered VTE prophylaxis doses by cohort. Multivariable logistic regression was used to identify characteristics associated with non-administration. A total of 13,316 patients were included; 89 with CF, 246 with SCD, and 12,981 other-medically ill. During the study period, 95,697 doses were prescribed; non-administration rates were 61.8% in the CF cohort, 32.7% in the SCD cohort, and 19.7% in the medically ill cohort (p<0.01). In the multivariable logistic regression, CF or SCD diagnosis [odds ratio (OR) 2.03, 95% confidence interval (CI) 1.59-2.6], multiple admissions (OR 2.4, 95% CI 2.19-2.64), and >5 prescribed doses of VTE prophylaxis (OR 2.48, 95% CI 2.29-2.69) were associated with non-administration of one or more doses. The percent of missed doses (median, IQR) per patient was highest in the CF cohort (66.7%, 84.5), followed by the SCD cohort (10.6%, 50), and medically ill cohort (0%, 16.7, p<0.01). These findings suggest strategies to improve VTE prophylaxis administration rates during acute hospitalization in high-risk conditions such as CF and SCD are needed.
Technology Access and Preferences for Smartphone App Interventions to Optimize Iron Chelation Therapy Adherence Among Adolescents, Young Adults, and Parents of Children Receiving Chronic Transfusions: Cross-Sectional Survey Study.
Iron chelation therapy (ICT) is essential for people with hematological disorders requiring chronic transfusions to minimize the risk of iron overload, yet suboptimal adherence is prevalent. Widespread use of personal technology makes mobile health (mHealth) an attractive platform to promote adherence. This study aimed to examine access to mobile technology and preferences for an mHealth intervention to improve adherence to ICT. A cross-sectional survey that included 63 items assessing technology access, mHealth preferences, and demographics was administered through REDCap (Research Electronic Data Capture), a digital research data tool, during packed red blood cell transfusion visits. Parents of children receiving chronic transfusions, as well as adolescents and young adults receiving chronic transfusions, were enrolled between August 2018 and June 2019. Patients had to have a hematologic diagnosis requiring chronic transfusions, be receiving ICT, and be aged 12 years or older to complete the survey. Parents were required to have a child aged 24 months who met these criteria. A total of 60 participants were included (median age 31.5, IQR 20-39 years; n=40, 67% female), with 29 (48%) being parents and 31 (52%) being patients. All parents and patients owned an electronic tablet, a smartphone, or both. The most endorsed mHealth app features among all participants included laboratory test monitoring (55/60, 92%), reminders to take iron chelation medication (50/60, 83%), and education about ICT (49/60, 82%). Parents' most endorsed features included laboratory test monitoring (27/29, 93%) and education about ICT (25/29, 86%). Patients' most endorsed features included laboratory test monitoring (28/31, 90%) and reminders to take iron chelation medication (28/31, 90%). There were no substantial differences between parents and patients in their preferences. Both parents and adolescents and young adults reported a strong interest in multiple mHealth app features. Participants provided valuable insights into optimal strategies and preferred app features for developing a multifunctional technology-based behavioral intervention to promote ICT adherence.
Nonmyeloablative pentostatin-cyclophosphamide preconditioning improves rates of engraftment in adults undergoing haploidentical HCT for sickle cell disease.
The morbidity and mortality of sickle cell disease (SCD) remain high. Novel nonmyeloablative haploidentical hematopoietic cell transplant (HCT) regimens are being proposed. This report compared the effect of adding an IV pentostatin and oral cyclophosphamide (PC) preconditioning to the nonmyeloablative NIH HCT platform of alemtuzumab and total body irradiation (TBI) in adults with severe SCD. Transplant outcomes were compared to a historical HCT cohort that did not receive the PC preconditioning. Thirty-nine adult SCD patients were included. The median age was 33 years, 61% were male, and 92% were HbSS genotype. The median follow-up was 6.5 years. Many patients had severe end-organ damage, including dialysis-dependent end-stage kidney disease (8%) and cirrhosis (10%). One-year overall survival was 95%. The PC regimen was associated with a reduction in acute rejection one-year post-HCT (5% vs. 44%; p = 0.004) and lower graft failure rates throughout the follow-up period. After a median follow-up of 5.2 years, the disease-free survival was 71% for the PC regimen. The PC preconditioning was associated with higher rates of full donor chimerism at 2-years post-HCT (0% vs. 43%; p = 0.02). Grade II-IV acute graft-versus-host disease (GVHD) rates were low; no patients developed moderate to severe chronic GVHD. There remain no cases of myeloid malignancy after PC. With the increased immunosuppression of PC, 23% of patients developed post-transplant lymphoproliferative disorder, 19% developed immune cytopenias, and 62% had viral reactivation. Further study to determine an optimal nonmyeloablative haploidentical regimen for SCD patients with compromised organ function is imperative. ClinicalTrials.gov (NCT00977691, NCT03077542).
Novel use of a Hash-Based Tokenization for Sharing Sickle Cell Disease Data Without Sharing PHI.
Efforts to improve care for people living with sickle cell disease (SCD) have led to the development of several registries; however, many are dependent on time-limited funding and lack coordination. Consequently, existing datasets are fragmented and do not provide the comprehensive, longitudinal insights achievable through well-integrated registries. Although relevant data exist within electronic medical records across institutions, aggregation is limited by poor interoperability, inconsistent use of common data elements, and poor translation of natural language into codified data. These barriers hinder population-level research and contribute to gaps in understanding the lifelong progression of SCD. Creating a new common data system risk losing years of valuable data, highlighting the need to optimize existing data resources. This study aimed to develop a privacy-preserving method to securely link three of the largest SCD data collection efforts in the United States. Conducted at the University of Alabama at Birmingham Lifespan Sickle Cell Center, the study leveraged IRB-approved access to the Sickle Cell Data Collection project, the American Society of Hematology Research Collaborative Data Hub, and the Globin Research Network for Data and Discovery (GRNDaD). Identity tokens were generated and hashed using SHA-256 to enable secure linkage without sharing protected health information. 8,026 records were identified across the three registries. Deterministic matching of hashed tokens identified 1,080 unique individuals appearing in at least two datasets. This study demonstrates the first privacy-preserving linkage of multiple SCD registries. Secure data integration enhances interoperability and enables richer longitudinal analyses critical for advancing SCD research and treatment development.
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Iron overload damages mitochondria and induces metabolic rewiring of hematopoietic stem cells towards glycolysis.
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Blood advancesTechnology Access and Preferences for Smartphone App Interventions to Optimize Iron Chelation Therapy Adherence Among Adolescents, Young Adults, and Parents of Children Receiving Chronic Transfusions: Cross-Sectional Survey Study.
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European journal of haematologyElevated tricuspid regurgitation velocity in adults with sickle cell disease and HbAA controls in Kinshasa, Democratic Republic of the Congo: a comparative cross-sectional study.
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CureusWelding the Gap on Sickle Cell Education.
Pediatric blood & cancerCharacterizing Engagement With a Mobile Health Application Designed for Adolescents and Young Adults With Sickle Cell Disease: Findings From the COMETS Study.
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CureusA mixed-methods evaluation to optimize the existing hospital based sickle cell disease care model from a tribal area of Gujarat, India.
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American journal of hematologyGenetics and Genomics in Sickle Cell Disease in Africa.
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American journal of hematologyThe Epidemiology of Sickle Cell Disease in Sub-Saharan Africa: Current Knowledge and Gaps to be Filled.
American journal of hematologyAdvancing Sickle Cell Disease Treatment in Sub-Saharan Africa: Challenges and Opportunities for Disease Modifying Therapies.
American journal of hematologyCreative and Adaptive Solutions for Early Diagnosis of Sickle Cell Disease in Sub-Saharan Africa.
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Blood. Red cells & ironThe Impact of Aging on Organ Systems in Sickle Cell Disease: a Comparative Review of Physiological Adaptation and Dysfunction.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacologyMULTIsite feasibility of MUSIc therapy to address Quality Of Life in Sickle cell disease (MULTI-MUSIQOLS): protocol for a mixed-methods randomised controlled trial at two US medical centres.
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American journal of hematologyDiagnosis and Management of Acute Chest Syndrome in Children With Sickle Cell Disease.
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Annals of hematologyMinutes Matter: An Audit of the Timeliness of Opioid Administration for Sickle Cell Disease Pain in the Emergency Department and Association With Disposition.
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Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionReproductive Health in Women with Sickle Cell Disease: A Cross-Sectional Study from Endemic Tribal Regions of India.
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Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionCross-Cultural Adaptation, Reliability and Validity of MOS Short Form Health Survey (SF-36) in Sickle Cell Disease Patients in India.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionGene Therapy for Sickle Cell Anemia in India - Current Status and Challenges.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionPath To Sickle Cell Disease Elimination in India: from Precision Diagnostics and Comprehensive Care To Curative Horizons.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionSickle Cell Disease in Central India: Haematological and Clinical Insights from a Large Cohort of Patients.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionSynergistic Potential of Thalidomide and Hydroxyurea in Sickle Cell Disease Management: A Promising Combination Therapy.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionIndian College of Hematology (ICH)& Indian Council of Medical Research (ICMR) Joint Consensus Document on Management and Control of Sickle Cell Disease in India.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionArtificial Intelligence Applications in Sickle Cell Retinopathy Imaging: Current Progress, Challenges, and Future Directions.
Journal of ophthalmologyQuantifications of CD4+ T-Lymphocytes levels in adult sickle cell patients: Examining immunological vulnerability and Vaso-Occlusive crises in a low-resource setting, northwestern Nigeria.
Oxford open immunologyPrevalence of mental health conditions among individuals with sickle cell disease in Texas Medicaid.
Expert review of hematologyNewborn screening for sickle cell disease in Angola: Implementation challenges and emerging data on hemoglobinopathy prevalence.
Blood cells, molecules & diseasesExercise training adaptations on cardiorespiratory fitness and quality of life of patients with sickle cell disease: A systematic review.
Blood cells, molecules & diseasesGeneration of two isogenic sickle cell disease induced pluripotent stem cell lines from ovarian fibroblasts.
Stem cell researchThe Sickle Africa Data Coordinating Centre (SADaCC): a data science hub for interdisciplinary sickle cell disease research and training.
Database : the journal of biological databases and curationSickle Cell Vaso-Occlusive Episodes Correlates with the Magnetic Heterogeneity of Red Blood Cell.
Blood advancesNewborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status-2026.
International journal of neonatal screeningIntegrated Newborn Screening in Nigeria: The Way Forward, A Workshop Report.
International journal of neonatal screeningAdvances and Gaps in Global Newborn Screening for Sickle Cell Disease.
International journal of neonatal screeningTraumatic Spinal Cord Infarction Associated With Elevated Intracranial and Intraspinal Pressure in a Pediatric Patient: A Case Report and Review of the Literature.
CureusTransition Readiness Assessment Questionnaire: A Tool Associated With Transfer Success for Adolescents and Young Adults Living With Sickle Cell Disease?
EJHaemCirculating angiogenesis-related biomarkers in sickle cell retinopathy and maculopathy.
British journal of haematologyNarratives unveil knowledge and awareness-related issue, reinforcing patients' self-identity in sickle cell disease.
Orphanet journal of rare diseasesLow-dose aspirin for preventing intrauterine growth restriction and pre-eclampsia in sickle cell pregnancy in Nigeria (PIPSICKLE): a randomised controlled trial.
The Lancet. Global healthRisk of vaso-occlusive crisis requiring hospitalization in sickle cell disease patients in brazil: retrospective cohort study of real-world data.
Annals of hematologyNovel use of genicular and vastus intermedius blocks for refractory knee pain in sickle cell disease.
Saudi journal of anaesthesiaNew consensus statement issued for sickle cell disease.
The American journal of nursingPregnancy outcomes among medically complex populations with high risk of pregnancy mortality in Virginia: a retrospective observational study.
BMC medicineG-CSF for Mobilizing CD34+ Cells in Individuals With SCD: A Word of Caution.
American journal of hematologyComparison of Mortality and Complications After Total Hip Arthroplasty in Patients with Sickle Cell Disease: A Retrospective Match-Controlled Study from Türkiye.
Turkish journal of haematology : official journal of Turkish Society of HaematologyExploring the temporal relationship between psychosocial risk factors and recurrent ischemic priapism.
Sexual medicineInterventions to Prevent Post-Discharge Mortality among Children in Sub-Saharan Africa: A Systematic Review.
The American journal of tropical medicine and hygieneSafety and effectiveness of voxelotor in individuals with sickle cell disease in the RETRO and PROSPECT US registries.
Blood advancesAdding to the Sickle Cell Disease Burden: Rising Hydroxyurea Costs Demand Action.
Pediatric blood & cancerThe emerging role of complement inhibitory approaches in the treatment of acute sickle cell disease complications.
Expert review of hematologyImproving endpoints for sickle cell disease clinical trials: retaining consistency and clinical benefit.
Expert review of hematologyGut microbiome profile among children and adolescents living with sickle cell disease: a protocol for systematic review and meta-analysis.
BMJ openA novel palmitoylethanolamide formulation improves hyperalgesia and red cell instability in murine sickle cell disease.
Blood vessels, thrombosis & hemostasisSickle Cell Crisis-Induced Painless Bilateral Orbital Bone Infarction: A Case Report.
Case reports in ophthalmologyA rare case of pediatric autoimmune pancreatitis and autoimmune hepatitis in a patient with sickle cell disease.
JPGN reportsDiagnostic Limitations of Hemoglobin A1c in the Setting of Compound Hemoglobinopathy: A Case Report of Sickle Cell Disease, Alpha Thalassemia, and Occult Diabetes.
CureusPriapism as an Initial Presentation of Sickle Cell Disease: A Case Report.
CureusCorrelation between diffuse correlation spectroscopy and transcranial Doppler ultrasound in pediatric sickle cell disease.
Biomedical optics expressLaboratory and genetic characteristic associated with gallbladder-related outcomes in sickle cell disease in Brazil: results from the REDS-III multicenter cohort study.
Annals of hematologyLong-term Follow-up After Mixed Donor Myeloid Chimerism at 1 Year Post Transplantation for Sickle Cell Disease.
Transplantation and cellular therapyStrategies and innovations in hypertension management for sickle cell patients: A narrative review.
MedicineOne cell at a time: HbF distribution in sickle cell disease.
Blood advancesmiRNA-Mediated Regulation of γ-Globin to β-Globin Switching: Therapeutic Potential in β-Hemoglobinopathies.
International journal of molecular sciencesRed Blood Cells in Normal and Pathological States: Redox Reactions of Hemoglobin.
Molecules (Basel, Switzerland)Gynecologic and Reproductive Health in Patients with Sickle Cell Disease: Underrecognized Challenges and Care Management Opportunities.
Journal of clinical medicineToward AI-Assisted Sickle Cell Screening: A Controlled Comparison of CNN, Transformer, and Hybrid Architectures Using Public Blood-Smear Images.
Diagnostics (Basel, Switzerland)Screening for sickle cell retinopathy: A comparison of systematic angiography and ultra-widefield imaging.
Journal francais d'ophtalmologieHeart starts suffering early in sickle cell disease.
HaematologicaBehçet's disease and avascular necrosis of the knees: a case report.
Annals of medicine and surgery (2012)From policy to practice: World Health Organization's contribution to safer blood transfusions in Africa for sickle cell management - a review.
Annals of medicine and surgery (2012)Heterozygous ABCC6 mutation in a patient with sickle cell disease: Pseudoxanthoma elasticum or pseudoxanthoma elasticum-like phenotype?
JAAD case reportsBurden and outcomes of cardiovascular and pulmonary complications in adolescents and adults with sickle cell disease: a systematic review and meta-analysis.
Systematic reviewsThe Incidences of S and s Antigens of the MNS Blood Group System in the Western Region of Saudi Arabia.
Clinical laboratoryStroke burden and functional impacts in adults with sickle cell disease.
British journal of haematologyDisseminated melioidosis complicated by osteomyelitis and pulmonary embolism in a patient with sickle cell disease and type 1 diabetes: A rare clinical triad.
Tropical doctorMultimodal imaging features to diagnose abdominal complications of sickle cell disease.
Abdominal radiology (New York)Effect of fully immersive virtual reality on daily pain, functional mobility, and health-related quality of life in pediatric sickle cell disease: a single-blinded randomized clinical trial.
Disability and rehabilitationChronic Pediatric Diseases in Remote Villages of French Guiana Over a 9-Year Period.
The American journal of tropical medicine and hygieneA call to integrate mental health support into Sickle Cell Disease care: The value of task-sharing in low- and middle-income countries.
PLOS mental healthExploring the quality of life of caregivers of children with sickle cell disease in a secondary health facility in Ghana.
Ghana medical journalA Qualitative Study of the Lived Experiences of Pregnancy and Childbirth: Unheard Voices of Black Women With Sickle Cell Disease.
SAGE open nursingMelioidosis in sickle cell hemoglobinopathies in eastern India: Cavitating pneumonia and immune susceptibility - a case series-based insight.
Indian journal of medical microbiologyPlatelet-neutrophil ratio as a potential biomarker for stroke risk stratification in children and young adults with sickle cell anaemia in resource poor settings.
Annals of hematologyEpidemiological and comorbidity burden in transfusion-dependent patients with thalassemia and sickle cell disease in Greece.
Annals of hematologyThe β-goblin gene architecture in individuals with and without sickle cell disease in Nigeria: Implications for β-thalassaemia trait diagnosis.
African journal of laboratory medicineValidation of a Pediatric Cognitive Assessment Tool to Advance Knowledge on Children's Cognitive Development, Health Risk Factors, and Health-promoting Interventions in Sub-Saharan Regions.
Innovations in clinical neuroscienceEffectiveness of psychological interventions for children eligible for pediatric palliative care: systematic review and meta-analysis.
BMC pediatricsNLRP3 inflammasome-mediated platelet hyperreactivity in sickle cell mice is targetable by BTK inhibition.
Biochemical and biophysical research communicationsEffectiveness of preimplantation genetic testing in sickle cell disease: insights from a single-center experience.
Journal of assisted reproduction and geneticsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Iron overload damages mitochondria and induces metabolic rewiring of hematopoietic stem cells towards glycolysis.
- Cystic Fibrosis and Sickle Cell Disease Associated with Non-administration of VTE Prophylaxis in Hospitalized Adults.
- Technology Access and Preferences for Smartphone App Interventions to Optimize Iron Chelation Therapy Adherence Among Adolescents, Young Adults, and Parents of Children Receiving Chronic Transfusions: Cross-Sectional Survey Study.
- Nonmyeloablative pentostatin-cyclophosphamide preconditioning improves rates of engraftment in adults undergoing haploidentical HCT for sickle cell disease.
- Novel use of a Hash-Based Tokenization for Sharing Sickle Cell Disease Data Without Sharing PHI.
- Periprosthetic Joint Infection With Salmonella Species 2 Years After Unicompartmental Knee Arthroplasty Treated With Debridement, Antibiotics, and Implant Retention (DAIR): A Case Report and Review of the Literature.
- Management of hematogenous osteomyelitis in children in Douala, Cameroon: diagnostic challenges, complications, and perspectives for improvement.
- Decoupling Detection and Classification to Improve Morphological Phenotype Analysis of Sickle Red Blood Cells in Full-Scope Microscopy.
- Advancing Pain Care for Individuals with Sickle Cell Disease: Two Innovative Psychological Approaches.
- A genetic risk score based on BCL11A and HBS1L-MYB variants predicts clinical severity in Brazilian sickle cell anaemia patients.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:275752(Orphanet)
- MONDO:0017146(MONDO)
- Doenca Falciforme(PCDT · Ministério da Saúde)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q185034(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
