Introdução
O que você precisa saber de cara
Doença neurodegenerativa rara com início congênito ou na infância precoce, causada por mutações nos genes EIF2B. Caracteriza-se por leucodistrofia, atraso no desenvolvimento, convulsões e disfunção neurológica progressiva.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição.
Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on the eukaryotic initiation factor 2 (eIF2) complex gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is re
Cytoplasm, cytosol
Leukoencephalopathy with vanishing white matter 3
An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.
Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub
Cytoplasm, cytosol
Leukoencephalopathy with vanishing white matter 4
An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.
Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub
Cytoplasm, cytosol
Leukoencephalopathy with vanishing white matter 1
An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.
Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub
Cytoplasm, cytosol
Leukoencephalopathy with vanishing white matter 5
An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.
Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub
Cytoplasm, cytosol
Leukoencephalopathy with vanishing white matter 2
An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
330 variantes patogênicas registradas no ClinVar.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome CACH congênito ou da infância precoce
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome CACH congênito ou da infância precoce
Centros para Síndrome CACH congênito ou da infância precoce
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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The Journal of thoracic and cardiovascular surgeryManaging heavy menstrual bleeding in adolescents with bleeding disorders: Outcomes from a pragmatic LMIC approach.
Blood cells, molecules & diseasesHearing assessment of Egyptian children with permanent congenital hypothyroidism: A single-center experience.
International journal of pediatric otorhinolaryngologyInternational Experience of Transcatheter Sinus Venosus Defect Closure in Children and Adolescents.
Pediatric cardiologyProgressive Subvalvular Right Ventricular Outflow Tract Obstruction With a Single Coronary Artery in an Adult.
JACC. Case reportsLymphocytic Choriomeningitis Virus Seroprevalence among Urban Pregnant Women and Newborns, Philadelphia, Pennsylvania, USA, 2021.
Emerging infectious diseasesLong-term results after senning and mustard operations for d-Transposition of the great arteries: Atrial switch should remain in armamentarium.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryCoronary artery anomalies in common arterial trunk: proposal of a new anatomical classification.
Interdisciplinary cardiovascular and thoracic surgeryMRI-based Quantification of Ossification Centers in the Human Fetal Atlas and Axis Vertebrae.
Current medical imagingDouble Jeopardy - A Case of Overlapping Takotsubo Syndrome and Spontaneous Coronary Dissection.
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)PARTIAL: study protocol for a clinical and cost-effectiveness of complex PARTIAL vs radical nephrectomy for clinically localised renal cell carcinoma randomised trial.
TrialsSevere Aortic Regurgitation with New Congestive Heart Failure Following Fetal Aortic Valvuloplasty - A Case Report.
Pediatric cardiologyChildren with congenital heart disease (CHD): families coping strategies and support systems.
Pediatric researchSERPINC1 p.M313T variant induces aberrant O-Glycosylation and leads to conformational instability-related transient antithrombin deficiency.
Thrombosis and haemostasisCone-Beam CT of the Temporal Bone: Normative Linear Biometry of Inner Ear Structures.
AJNR. American journal of neuroradiologyResults of a Preoperative Screening Brain Magnetic Resonance Imaging Protocol in Neonates Undergoing Cardiopulmonary Bypass.
The Annals of thoracic surgeryAutomated Three-dimensional Transthoracic Echocardiography for Right Ventricular Assessment in Children with Congenital and Acquired Heart Disease: Validation Against Cardiac MR.
Journal of the American Society of Echocardiography : official publication of the American Society of EchocardiographyAdvancing ABO-Histocompatibility: Impact of Multiplexed ABO Antibody Immunoassay to Increase Precision in Pediatric Heart Transplantation.
The Journal of heart and lung transplantation : the official publication of the International Society for Heart TransplantationOcular motor atavisms: the evolutionary basis of infantile strabismus and nystagmus.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusPreoperative pulmonary hemodynamics and clinical decision making to determine operability and risk of long-term pulmonary hypertension in infants with open shunt under 1 year.
International journal of cardiologyEarly brainstem volume and the need for respiratory and vasoactive support in very preterm infants.
Early human developmentMechanism of benzophenone-3 in promoting proliferation and migration of prostate cancer cells via the acyl-CoA dehydrogenase 9 axis.
Ecotoxicology and environmental safetyIdentification of new molecular mechanisms of antithrombin deficiency: six new SERPINC1 variants in a Polish cohort.
Thrombosis researchPost-discharge feeding problems and associated factors in children undergoing congenital heart surgery: A descriptive cross-sectional study.
Journal of pediatric nursingGlobal research status and trends in macrodactyly research: Bibliometric and visualized analysis from 2005 to 2025.
MedicineA Review of Pituitary Duplication and First Report of Associated Precocious Puberty in a Boy.
Hormone research in paediatricsNuclear YAP Activation in an Ex Vivo Murine Lung Model of Fetal Tracheal Occlusion.
Fetal diagnosis and therapyImmune mechanisms of congenital Zika syndrome.
Science immunologyPrevalence and characteristics of scoliosis among ethiopian schoolchildren aged 6-15 Years: A school-based cross-sectional study.
PloS oneFemoral Distraction Osteogenesis in Fibular Hemimelia: Risks and Advantages Using Magnetically Driven Antegrade Intramedullary Lengthening Nails.
The Journal of the American Academy of Orthopaedic SurgeonsPrenatal Syphilis Screening Mandates and Maternal Syphilis Case Detection.
JAMA health forumMultimodality Assessment of a Culprit LAD Myocardial Bridge in a Patient With Congenital Heart Disease.
JACC. Case reportsPedicled Anterolateral Thigh Flap Reconstruction of Exposed Renal Allograft.
Annals of plastic surgeryChildren born to mothers receiving chronic dialysis, a national French cohort (2013-2021).
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationNovel CYP17A1 variants and functional validation in a large Chinese cohort of complete 17α-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolismBalancing Efficacy and Risks: A Systematic Review and Meta-Analysis of Concomitant Surgical Ablation for Atrial Fibrillation and Valve Surgery.
Cardiology in review3D geometric morphometrics in veterinary science: applications, standardization, and future directions.
Polish journal of veterinary sciencesPartial Anomalous Pulmonary Venous Return in Lung Cancer Surgery: Diagnostic Challenges and Surgical Considerations in Two Cases.
The Tokai journal of experimental and clinical medicineNotch signaling pathway and heart development, congenital heart disease, and myocardial regeneration.
Frontiers in bioengineering and biotechnologyIntraoperative sodium range affects white matter microstructure in neonatal congenital heart disease.
International journal of cardiology. Congenital heart diseaseSafety, feasibility and impact of a 12-week yoga program in adults Fontan patients: a pilot study.
International journal of cardiology. Congenital heart diseasePercutaneous Transcatheter Closure of Multiple Ostium Secundum Atrial Septal Defects: A Case Report.
CureusMain branches pulmonary artery stenting in congenital heart diseases: a case series.
Frontiers in cardiovascular medicineCrystal Violet Staining Facilitates Boundary Recognition in the Removal of Spinal Arachnoid Pathology.
NMC case report journalEAM-CT Merge Guiding a Safe Transeptal Puncture in Atrial Tachycardia Ablation in a Intracardiac Fontan Patient.
Clinical case reportsLess Invasive Acute Rejection Surveillance After Pediatric Heart Transplantation: Experiences From a Low-intensity Biopsy Center.
Transplantation directNeonatal pulmonary vascular remodeling induced by increased blood flow is associated with an antiviral-like immune signature.
Frontiers in immunologyA Phase 1/2, Open-Label, Single-Dose, Multicenter Study to Evaluate the Pharmacokinetics and Safety of Human Plasma-Derived Protein C Concentrate in Japanese Patients with Severe Congenital Protein C Deficiency (SCPCD).
Journal of blood medicineUnclassified complex urogenital anomaly in a 3-year-old girl: Diagnostic and surgical challenges.
Urology case reportsMeckel-Gruber syndrome: a rare and fatal congenital disorder (case report).
The Pan African medical journalThe neglected role of partner treatment in congenital syphilis control in Brazil: nationwide evidence from 2007 to 2023.
Lancet regional health. AmericasSingle-stage surgical modification for neonatal aortic coarctation and ventricular septal defect: a case report.
European heart journal. Case reportsImplications of segmental and lobar tracheobronchial anomalies in congenital heart disease: a 12-year retrospective CT analysis.
Frontiers in radiologySurprising intraoperative discovery of a Ladd's band in a patient with midgut volvulus associated with intestinal malrotation: a case report.
Journal of surgical case reportsElective percutaneous stellate ganglion block for prediction of the clinical outcome of robotic bilateral cardiac sympathetic denervation in a patient with Andersen-Tawil syndrome: A case report.
European journal of anaesthesiologyReal-time acoustic monitoring of perinatal volume fluctuations in a pregnant woman after complex congenital heart disease surgery: a case report.
European heart journalUPDhmm: detecting Uniparental Disomy from NGS trio data.
Bioinformatics (Oxford, England)A safe and efficacious inactivated vaccine aids prevent reproductive failure associated with congenital toxoplasmosis in ovine.
Veterinary researchPrenatal characteristics and factors contributing to congenital syphilis: A descriptive analysis of cases reported to the Canadian Paediatric Surveillance Program June 2021 through May 2023.
Canadian journal of public health = Revue canadienne de sante publiqueDisease burden and associated factors among caregivers of children with congenital heart disease at tertiary hospitals in Addis Ababa, Ethiopia.
Scientific reportsTF-VSF: A Novel Training-Free Visual-Semantic Fusion Rare Medical Morning Glory Syndrome Diseases Severity Assessment Method.
Journal of imaging informatics in medicineManagement of Tuberous Breasts by Exclusive Fat Grafting.
Aesthetic plastic surgeryBeyond iron deficiency: A comprehensive national survey of anaemia etiology in Sri Lankan young adults.
Scientific reportsCryo-EM structure of TRPM1 reveals a non-canonical architecture with an inverted transmembrane domain.
Nature communicationsAcetylation-triggered degradation of MSX1 impairs palatal development.
Cell death discoveryFetal Fentanyl Syndrome: An Opportunity to Quantify the Risk in Prospective Cohorts of Patients With Substance Use Disorder.
Journal of addiction medicineTerlipressin Therapy for Portal Hyperperfusion Secondary to Portal Vein Size Discrepancy After Pediatric Liver Transplant.
Pediatric transplantationUrothelial Carcinoma of the Bladder Following BK Virus Infection in a Pediatric Kidney Transplant Recipient.
Pediatric transplantationAssociation between childhood physical activity and adulthood sedentary behavior and physical activity in patients with congenital heart disease.
The Canadian journal of cardiologyMechanical atrioventricular valve replacement during and after the single ventricle palliation.
The Annals of thoracic surgeryComparison of free-running whole-heart 5D and 4D flow imaging to standard 2D flow in patients with congenital heart disease.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic ResonanceCongenital cystic eye and coloboma with a cyst hybrid phenotype: a developmental continuum.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusLaminin-α2 is required for the maintenance of the myotendinous junction in vivo.
Matrix biology : journal of the International Society for Matrix BiologySummary of the 2025 European Society of Cardiology Guidelines for the management of cardiovascular disease and pregnancy.
International journal of obstetric anesthesiaLimb position effect in myoelectric control: Strategies for optimisation and standardisation.
Journal of neural engineeringEarly pregnancy ultrasound as a tool for detecting fetal structural abnormalities: insights from a retrospective study.
Future science OARetroperitoneal-First Laparoscopic Approach (Retlap) for Bile Duct Resection in Pancreaticobiliary Maljunction (PBM): A Novel and Reasonable Approach to Intrapancreatic Bile Duct.
Annals of surgical oncologyClinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.
Molecular biology reportsThe weaponization of medical referrals and evacuations during the genocide in Gaza: a brief report and call to action.
The Journal of the Egyptian Public Health AssociationHematopoietic Stem Cell Transplantation in a Fontan Patient With Myelodysplastic Syndrome.
JACC. Case reportsReconstruction of Concha-Type Microtia Using a Crescent Costal Framework and Residual Auricular Cartilage.
Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-facialeStrengthening Education for Advanced Practice Providers in Adult Congenital Heart Disease Care.
JACC. Case reportsMulti-Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study.
Journal of cachexia, sarcopenia and muscleUFMylation: A Key Role in Maintaining Endoplasmic Reticulum Homeostasis.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyA De Novo Variant in NALCN Associated With Arthrogryposis and Neonatal Respiratory Failure: A Case Report.
Pediatric pulmonologyNeurodevelopmental assessment at 24 months in infants with esophageal atresia: A prospective cohort study.
Journal of pediatric gastroenterology and nutritionCurrent concepts in Falciform ligament hernia diagnosis and treatment. A systematic review.
Acta chirurgica BelgicaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome CACH congênito ou da infância precoce.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Complaints Involving Sonographers: What Three Decades of Cases From A Public New Zealand Database Can Teach Us.
- Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
- Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.
- Prognostic significance of serum apelin-13 and galectin-3 concentrations as potential indicators of severity and mortality in pediatric acute respiratory distress syndrome.
- Prevalence of persistent left superior vena cava in the general population: a systematic review with meta-analysis.
- Cumulative Antibiotic Exposure in Children with Spina Bifida.
- The Influence Pathway of the Burden on Caregivers of Children With Congenital Ear Malformations: An Analysis of the Mediating Effects of Social Support and Coping Mechanisms.
- Research at the Paris Foundling Hospitals. Part 2: After the Revolution.
- Catheter-based Foetal Cardiac Interventions (FCI) - Literature Review.
- Growth Guidance Surgery: Factors Associated With Complications.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:157713(Orphanet)
- MONDO:0015519(MONDO)
- GARD:16978(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Q56013729(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