Hospital Infantil Albert Sabin

Recent papers from Hospital Infantil Albert Sabin

1. Intermittent Maple Syrup Urine Disease Presenting With Chronic Demyelinating Polyneuropathy: A Genetically Confirmed DBT ‐Related CaseJournal of the Peripheral Nervous System · 2026
2. Self-reported food allergy in the elderly – Lifetime prevalence and clinical features in older adults seeking allergy care in BrazilWorld Allergy Organization Journal · 2026
3. Rare diseases in Brazil: a nationwide analysis of the diagnostic odysseyJournal of Community Genetics · 2026
4. Clinical and Genetic Spectrum of ATP1A3 -Related DisordersNeurology Genetics · 2026
5. Extrathyroidal extension is independently associated with cervical lymph node metastasis in pediatric papillary thyroid carcinoma.2026
6. Vosoritide therapy in Brazil: Consensus on the Diagnosis, Monitoring, and Management of AchondroplasiaOrphanet Journal of Rare Diseases · 2026
7. Clinical and epidemiological profile of infants with severe bronchiolitis before and after the COVID-19 pandemic.2026
8. Novel Homozygous Pathogenic Variant in DNAJC6 Causes Rapid Progressive ParkinsonismMovement Disorders Clinical Practice · 2026
9. The clinical, radiological and genetic spectrum AARS2-related leukoencephalopathy: a case series of 15 patients and review of the literatureJournal of Neurology · 2026
10. A systematic review on clinical and laboratory effects of vitamin D deficiency in children with sickle cell diseaseNutrition and Health · 2026
11. Current Challenges in Pediatric Hematology and Oncology: An Integrated Multidisciplinary PerspectiveEuropean Journal Of Haematology · 2026
12. Craniofacial Suture Maturation in Pycnodysostosis: A CBCT-Based Assessment of the Midpalatal, Zygomaticomaxillary Sutures and the Spheno-Occipital SynchondrosisThe Cleft Palate-Craniofacial Journal · 2026
13. Multimodal neurophysiological and ultrasound evaluation in Hopkins syndrome: a case reportThe Egyptian Journal of Neurology Psychiatry and Neurosurgery · 2026
14. Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross‐Sectional Observational StudyClinical Genetics · 2026
15. PITCH (pediatric infratentorial tumors – hydrocephalus-related complications) registry study design: observational, prospective, multicenter study evaluating the number of surgeries associated with the treatment of hydrocephalus secondary to infratentorial tumors in childhood and adolescenceChild s Nervous System · 2026
16. Interferonopathies in Brazil: The Pivotal Role of the Interferon Signature for Diagnosis and for the Genetic Sequencing in the CNE3iSHILAP Revista de lepidopterología · 2026
17. Clinical and Genetic Spectrum of Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Like Disorders in Brazil: Insights from the First Year of the CNE3i National CohortSHILAP Revista de lepidopterología · 2026
18. Clinical and Genetic Spectrum of Pyrinopathies in Brazilian Patients: Insights from the First Year of the CNE3i National CohortSHILAP Revista de lepidopterología · 2026
19. Criteria for referring pediatric and adult patients with hematological diseases to palliative care: Consensus of the Brazilian Association of Hematology, hemotherapy and cell therapy (2025)Hematology Transfusion and Cell Therapy · 2026
20. Serum Neurofilament Light Levels in Patients with Cerebrotendinous Xanthomatosis: a Pilot StudyThe Cerebellum · 2026