A alfa-manosidose é uma doença hereditária de armazenamento lisossômico caracterizada por deficiência imunológica, anormalidades faciais e esqueléticas, deficiência auditiva e déficit intelectual.
Introdução
O que você precisa saber de cara
A alfa-manosidose é uma doença hereditária de armazenamento lisossômico caracterizada por deficiência imunológica, anormalidades faciais e esqueléticas, deficiência auditiva e déficit intelectual.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 49 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 151 características clínicas mais associadas, ordenadas por frequência.
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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Can hydrolyze a variety of glycan substrates containing terminal alpha-mannosidic linkages. Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues on oligosaccharides generated by N-glycoprotein degradation pathways
Lysosome lumenSecreted
Mannosidosis, alpha B, lysosomal
A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with intellectual disability, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
442 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
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 — Alfa-manosidose
Selecione um estado ou use sua localização para ver resultados.
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
Ensaios em destaque
🟢 Recrutando agora
3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
29 ensaios clínicos encontrados, 4 ativos.
Publicações mais relevantes
Exemplifying a measurement validation strategy for rare- and ultra-rare diseases: measuring what matters in alpha-mannosidosis.
Outcomes assessment in rare and ultra-rare diseases can be hampered by the paucity of condition-specific patient-reported outcome (PRO) measures that are known to be reliable, valid, and fit for purpose. It would be helpful to develop a strategy for measuring what matters to patients/caregivers in rare and ultra-rare diseases and for validating this measurement approach even with the constraint of very small samples. The present work aims to propose a measurement strategy that builds on a conceptual measurement model of core concerns in the context of an ultra-rare lysosomal storage disorder, namely Alpha-Mannosidosis (AM). Beginning with a comprehensive literature review of what is known about AM, we identified key domains to be assessed. We drafted items for use in a video-conferenced semi-structured interview to assess symptoms in all of the relevant domains. We then identified generic, validated proxy-reported evaluative tools to assess as many of these domains as possible for use in a web-based survey. Using data collected from caregivers of individuals with AM, we then evaluated aspects of validity of the interview and survey modes of data collection. The study sample included 16 AM caregivers reporting on the disease experience of 20 individuals with AM ranging in age from 4 to 49 years old. The new assessment package’s “validation” relied on a more qualitative or visual summary of the many aspects of validity, including content validity, criterion-related validity, known-groups validity, convergent and divergent validity, and longitudinal construct validity (i.e. responsiveness). It integrated information from causal (symptom measures) and effect (evaluative PRO measures) indicators to describe what quality of life concerns are linked to the AM symptom experience. Our approach emphasized effect sizes over p-values. This study provides a roadmap for creating meaningful outcome assessment in the context of rare and ultra-rare disease. This measurement strategy yielded an empirically-based description of the multidimensional impact of AM and characterized treatment benefits more comprehensively. The new assessment package might be used in longitudinal cohort or registry studies to capture the natural history of this ultra-rare disease, could inform future clinical trials, and capture real-world efficacy outcomes of targeted treatments.
Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.
Bone age (BA) assessment is essential for monitoring growth and maturation and guiding therapeutic interventions. While deep learning (DL) models offer high-speed automated BA prediction, their generalizability to rare pathological and diagnostically complex populations remains a significant concern. This study aims to validate the open-source DL system Deeplasia on external data from pediatric patients with various syndromic, endocrine, and lysosomal storage disorders (LSDs) and to compare its accuracy and consistency against multiple expert human raters. We retrospectively assembled 1,138 hand radiographs from multiple centers, including patients with SHOX deficiency; Noonan syndrome; Silver-Russell syndrome; Ullrich-Turner syndrome; pseudohypoparathyroidism; congenital adrenal hyperplasia (CAH); precocious puberty and precocious pseudopuberty (cohort 1); mucopolysaccharidosis types I, II, III, IV, and VI; alpha-mannosidosis; and unclassified LSDs (cohort 2). For each radiograph, BA was evaluated using the Greulich and Pyle method by two to five human experts to obtain a mean BA reference. Model performance was assessed using the mean absolute error (MAE), root mean squared error (RMSE), and 1-year accuracy for each cohort and underlying conditions, sex, and age groups. Furthermore, Deeplasia's performance was compared with that of individual raters by testing each rater and the model against the remaining experts. Deeplasia achieved a mean MAE of 5.95 months, an RMSE of 8.01 months, and a 1-year accuracy of 89.9% for cohort 1 (endocrine and syndromic conditions). For cohort 2 (lysosomal storage disorders), Deeplasia achieved a mean MAE of 7.13 months, an RMSE of 9.56 months, and a 1-year accuracy of 81.2%. In direct comparisons between Deeplasia and individual raters tested against the remaining experts, Deeplasia outperformed all human raters. Deeplasia was validated as a highly consistent, robust, and reliable tool for BA assessment in complex cases. It demonstrated superior accuracy compared with individual human raters and may assist clinicians in BA evaluation.
Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant.
Alpha-mannosidosis is a rare lysosomal storage disorder caused by MAN2B1 mutations, leading to cognitive decline, hearing loss, infections, and skeletal abnormalities. Limited data exist from the Middle East; this study describes the clinical and genetic features of affected Iraqi children. This study was conducted at Children Welfare Teaching Hospital, and Al Emamayn Al Khadimiyan Medical City Baghdad, Iraq. We retrospectively reviewed children diagnosed with alpha-mannosidosis (2017-2025). Diagnosis was confirmed by enzyme assay and MAN2B1 testing. Clinical and imaging data were collected from medical records. A total of nine children from five unrelated families were identified. The cohort included seven males and two females. The mean age at symptoms onset was 1.1 ± 0.5 years, while the mean age at diagnosis was 10.7 ± 7.6 years, indicating a diagnostic delay of approximately 9.6 ± 7.4 years. All the patients were born to consanguineous parents. The most common clinical features included psychomotor delay, sensorineural hearing loss and coarse facial features (100 % for each). Neuroimaging of the brain revealed variable findings, and skeletal radiographs showed dysostosis multiplex in 4/9 patients. Genetic testing revealed three pathogenic/likely pathogenic MAN2B1 variants, including one novel variant [c.830C > T (p.Pro277Leu)]. Our findings represent the first clinical and molecular characterization of alpha-mannosidosis in Iraqi children and reveal previously unreported genetic features in this population. It highlights that clinical and laboratory findings in our patients were largely consistent with previously published regional and international data. It demonstrates notable diagnostic delay and identified novel variants, expanding the mutational spectrum associated with the disease.
Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.
To report a case of α-mannosidosis with intellectual, hearing impairment and progressive retinal degeneration, supported by ten years of ophthalmic follow-up, genetic testing, and leukocyte α-mannosidase enzymatic analysis. The patient underwent serial ophthalmic examinations over a ten-year period, including best-corrected visual acuity (BCVA) testing, fundus photography, optical coherence tomography (OCT), and fundus autofluorescence (FAF), to monitor disease progression. Trio-based whole-exome sequencing (WES) was performed on the family. Variant confirmation was conducted via Sanger sequencing. To support the genetic findings, leukocyte α-mannosidase activity was measured using fresh peripheral blood samples. At first presentation, BCVA was 20/50 OD and 20/40 OS. Over the next decade, vision progressively declined to 20/200 in both eyes. Fundus images showed granular pigment mottling in the posterior pole, and subsequent wide-angle imaging detected bone-spicule pigmentation deposits in peripheral retina. OCT demonstrated progressive retinal thinning, with loss of the ellipsoid zone. FAF revealed expanding areas of retinal atrophy. The patient has presented with bilateral sensorineural hearing loss, delayed speech development, persistent dysarthria, mild cognitive impairment, and coarse facial features since childhood. Genetic analysis identified a novel homozygous MAN2B1 mutation: c.1316_1327delinsTGATG (p.Ala439Valfs*36), inherited from consanguineous parents with the same heterozygous genotypes. The variant was classified as pathogenic based on ACMG criteria. The patient's leukocyte α-mannosidase activity was profoundly decreased, confirming the diagnosis. This case highlights the progressive nature of retinal degeneration in α-mannosidosis and underscores the diagnostic value of leukocyte enzyme testing alongside genetic and ophthalmic assessments. Early recognition of ophthalmic signs, particularly in patients with syndromic features such as hearing loss and facial dysmorphism, is essential for timely diagnosis and intervention.
[Alpha-mannosidosis].
Publicações recentes
Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.
Exemplifying a measurement validation strategy for rare- and ultra-rare diseases: measuring what matters in alpha-mannosidosis.
Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant.
Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.
📚 EuropePMC158 artigos no totalmostrando 95
Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.
Frontiers in endocrinologyExemplifying a measurement validation strategy for rare- and ultra-rare diseases: measuring what matters in alpha-mannosidosis.
Orphanet journal of rare diseasesUnveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant.
Molecular genetics and metabolism reportsAlpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.
Documenta ophthalmologica. Advances in ophthalmologyDelayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity.
Genetics in medicine openEffect of disease progression on CSF-directed AAV gene therapy in a large brain animal model of lysosomal storage disease.
Molecular therapy. Methods & clinical developmentOutcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.
Journal of inherited metabolic diseaseMucopolysaccharidosis Type I and α-Mannosidosis-Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations.
BiomedicinesEvolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey.
Orphanet journal of rare diseasesDisease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis.
Molecular genetics and metabolism reportsA new view of missense mutations in α-mannosidosis using molecular dynamics conformational ensembles.
Protein science : a publication of the Protein SocietyDigging out the Molecular Connections between the Catalytic Mechanism of Human Lysosomal α-Mannosidase and Its Pathophysiology.
Journal of chemical information and modelingRetrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE.
JIMD reportsAnalysis of serum oligosaccharides by UPLC-MS/MS for diagnosis and treatment monitoring of patients with alpha-mannosidosis.
Molecular genetics and metabolismChoroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage disease.
Human molecular geneticsVelmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Genetics in medicine openMAN2B1 in immune system-related diseases, neurodegenerative disorders and cancers: functions beyond α-mannosidosis.
Expert reviews in molecular medicineα-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.
Orphanet journal of rare diseasesExtended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis.
Journal of inherited metabolic diseaseLysosomal storage diseases.
Handbook of clinical neurologyExome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.
Frontiers in geneticsMonitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.
Molecular genetics and metabolismWidespread correction of brain pathology in feline alpha-mannosidosis by dose escalation of intracisternal AAV vector injection.
Molecular therapy. Methods & clinical developmentPrenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case.
CureusDiagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease.
Molecular genetics and metabolismLong-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.
European journal of medical geneticsLevodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association.
Movement disorders clinical practiceAn unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.
American journal of medical genetics. Part ACarrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population.
Frontiers in geneticsAlpha-mannosidosis: a case with novel ultrastructural and light microscopy findings.
Journal of pediatric endocrinology & metabolism : JPEMLong-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.
Clinical dysmorphologyCatalytic Reaction Mechanism of Bacterial GH92 α-1,2-Mannosidase: A QM/MM Metadynamics Study.
Chemphyschem : a European journal of chemical physics and physical chemistryA Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency.
GenesCan velmanase alfa be the next widespread potential therapy for alpha-mannosidosis?
International journal of surgery (London, England)Audiological and radiological study of eight polish patients with alpha-mannosidosis.
International journal of pediatric otorhinolaryngologyFirst experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis.
American journal of medical genetics. Part ARelationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosis.
JIMD reportsThe Application of HPLC-FLD and NMR in the Monitoring of Therapy Efficacy in Alpha-Mannosidosis.
Frontiers in bioscience (Landmark edition)Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study.
Journal of inherited metabolic diseaseAnalysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Journal of inherited metabolic diseaseBeta-mannosidosis presenting predominantly with recurrent pulmonary infections, hemorrhage, and cystic lesions.
Pediatric pulmonologyBiochemical characteristics of point mutated Capra hircus lysosome α-mannosidase.
The Journal of veterinary medical scienceMortality in patients with alpha-mannosidosis: a review of patients' data and the literature.
Orphanet journal of rare diseasesLong-term outcome of patients with alpha-mannosidosis - A single center study.
Molecular genetics and metabolism reportsAlpha-mannosidosis caused by toxic plants in ruminants of Argentina.
Anais da Academia Brasileira de CienciasAlpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
PloS oneAlpha-Mannosidosis: A Novel Cause of Bilateral Thalami and Dentate Nuclei Hyperintensity.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesAlpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene.
Journal of pediatric neurosciencesAnimal medical genetics: a historical perspective on more than 50 years of research into genetic disorders of animals at Massey University.
New Zealand veterinary journalElevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
Diagnostics (Basel, Switzerland)White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis.
Molecular genetics and metabolismAlpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.
Clinical dysmorphologyCaregivers' and Physicians' Perspectives on Alpha-Mannosidosis: A Report from Italy.
Advances in therapyThe SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis.
Orphanet journal of rare diseasesEarly biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosis.
JIMD reportsGlobal CNS correction in a large brain model of human alpha-mannosidosis by intravascular gene therapy.
Brain : a journal of neurologyGene therapy for global brain diseases: one small step for mice, one giant leap for humans.
Brain : a journal of neurologyManno-epi-cyclophellitols Enable Activity-Based Protein Profiling of Human α-Mannosidases and Discovery of New Golgi Mannosidase II Inhibitors.
Journal of the American Chemical SocietyThe Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.
CellsComprehensive cardiopulmonary assessment in α mannosidosis.
Pediatric pulmonologyα-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an 'MPS-like' phenotype.
Molecular genetics and metabolismUse of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis.
Molecular genetics and metabolism reportsIntellectual functioning in alpha-mannosidosis.
JIMD reportsIntranasal dexmedetomidine and intravenous ketamine for procedural sedation in a child with alpha-mannosidosis: a magic bullet?
Italian journal of pediatricsLarge animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases.
Human molecular geneticsHearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
American journal of medical genetics. Part ATandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis.
Molecular genetics and metabolismUltra-orphan lysosomal storage diseases: A cross-sectional quantitative analysis of the natural history of alpha-mannosidosis.
Journal of inherited metabolic diseaseDisease progression of alpha-mannosidosis and impact on patients and carers - A UK natural history survey.
Molecular genetics and metabolism reportsHydrallantois in cows naturally poisoned by Sida carpinifolia in Brazil.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncPharmacological Chaperones for the Treatment of α-Mannosidosis.
Journal of medicinal chemistryRecognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group.
Molecular genetics and metabolismUPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring.
Clinical chemistryRetinal and optic nerve degeneration in α-mannosidosis.
Orphanet journal of rare diseasesEfficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial.
Journal of inherited metabolic diseaseAlpha-Mannosidosis: Therapeutic Strategies.
International journal of molecular sciencesComprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.
Journal of inherited metabolic diseaseEnzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.
Molecular genetics and metabolismPATIENT AND PUBLIC INVOLVEMENT IN EARLY AWARENESS AND ALERT ACTIVITIES: AN EXAMPLE FROM THE UNITED KINGDOM.
International journal of technology assessment in health careIntestinal Epithelial Cell-specific Deletion of α-Mannosidase II Ameliorates Experimental Colitis.
Cell structure and functionSuspect drug interaction in gimmers.
The Veterinary recordLong-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice.
Neurobiology of disease[Novel therapies in neurometabolic diseases: the importance of early intervention].
Revista de neurologiaSwainsonine-induced lysosomal storage disease in goats caused by the ingestion of Sida rodrigoi Monteiro in North-western Argentina.
Toxicon : official journal of the International Society on ToxinologyPersistent recipient-derived human adenovirus (HAdV)-specific T cells promote HAdV control after allogeneic hematopoietic stem cell transplantation.
Bone marrow transplantationLysosomal alpha-mannosidase and alpha-mannosidosis.
Frontiers in bioscience (Landmark edition)Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.
JIMD reportsIdentification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations.
Human mutationChronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice.
Annals of clinical and translational neurologyDiffusion Tensor Imaging for Assessing Brain Gray and White Matter Abnormalities in a Feline Model of α-Mannosidosis.
Journal of neuropathology and experimental neurologyClinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1.
Molecular therapy : the journal of the American Society of Gene TherapyAlpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function.
Clinical geneticsAlpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
Orphanet journal of rare diseasesCognitive profile and activities of daily living: 35 patients with alpha-mannosidosis.
Journal of inherited metabolic diseaseamamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis.
Human mutationAssociações
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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.
- Exemplifying a measurement validation strategy for rare- and ultra-rare diseases: measuring what matters in alpha-mannosidosis.
- Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.
- Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant.
- Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.
- [Alpha-mannosidosis].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:61(Orphanet)
- OMIM OMIM:248500(OMIM)
- MONDO:0009561(MONDO)
- GARD:6968(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q250449(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
