Novedades Ayuda Acceso institucional

Buscar recursos académicos

Encontrá libros, artículos, revistas, tesis y otros recursos académicos. Buscá, elegí el resultado correcto y accedé al contenido.

Búsqueda avanzada
Qué reúne NODOVOX Discovery: catálogos institucionales, recursos electrónicos, revistas de acceso abierto, colecciones disponibles y enlaces de consulta académica.
medicina forense derecho revistas Open Access texto completo

Resultados

50 resultados encontrados.

Tipos de recurso: Libro electrónico Artículo Revista Tesis Capítulo
Búsqueda académica
Inborn Errors of Immunity Adolescents at School
Artículo
Acceso abierto Artículo DOAJ
Inborn Errors of Immunity Adolescents at School
Jacques G. Rivière et al · Rockefeller University Press · 2026 · ISSN 3065-8993
BackgroundAdolescents with inborn errors of immunity (IEI) experience disease-related absenteeism and psychosocial challenges that can compromise schooling. Evidence integrating perspectives across stakeholders is limite...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Disponible en línea Ficha bibliográfica
Inborn Errors of T Cell Topographic Memory Underlie Organ-Selective Infectious Diseases
Artículo
Material complementario disponible Artículo DOAJ
Inborn Errors of T Cell Topographic Memory Underlie Organ-Selective Infectious Diseases
Ahmad Yatim et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Background and AimMost infections are innocuous in most individuals, and most infectious diseases are confined to specific organs. Inborn errors of tissue-intrinsic, non-leukocytic immunity underlie some organ-specific i...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Material complementario disponibleEl enlace apunta a material asociado, anexos, tablas, datos o página complementaria. No se marca como libro/texto completo.
Material complementario
Abrir material Ficha bibliográfica
Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature
Artículo
Acceso abierto Artículo CONICET Digital
Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature
Caldirola, Maria Soledad et al · Federation of American Societies for Experimental Biology · 2022 · ISSN 0741-5400
Inborn errors of immunity are a group of genetic disorders caused by mutations that affect the development and/or function of several compartments of the immune system, predisposing patients to infections, autoimmunity, ...
Idioma eng
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Disponible en línea Ficha bibliográfica
A Survey-Based Study of Reproductive Health Practices by Immunologists of the Clinical Immunology Society in Patients with Inborn Errors of Immunity
Artículo
Material complementario disponible Artículo DOAJ
A Survey-Based Study of Reproductive Health Practices by Immunologists of the Clinical Immunology Society in Patients with Inborn Errors of Immunity
Jessica Galant-Swafford et al · Rockefeller University Press · 2026 · ISSN 3065-8993
IntroductionIndividuals with inborn errors of immunity (IEI) are increasingly reaching reproductive age, yet guidance on fertility preservation, genetic counseling, medication adjustments in pregnancy and breastfeeding, ...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Material complementario disponibleEl enlace apunta a material asociado, anexos, tablas, datos o página complementaria. No se marca como libro/texto completo.
Material complementario
Abrir material Ficha bibliográfica
An Interpretable, Artificial Intelligence-Empowered Mortality Risk Score for Inborn Errors of Immunity
Artículo
Material complementario disponible Artículo DOAJ
An Interpretable, Artificial Intelligence-Empowered Mortality Risk Score for Inborn Errors of Immunity
Liangying Liu et al · Rockefeller University Press · 2026 · ISSN 3065-8993
One foundational goal of global health and a shared inspiration for all humankind is to reduce premature mortality from preventable and treatable conditions. This imperative becomes markedly more urgent for the uniquely ...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Material complementario disponibleEl enlace apunta a material asociado, anexos, tablas, datos o página complementaria. No se marca como libro/texto completo.
Material complementario
Abrir material Ficha bibliográfica
Beyond Inborn Errors of Immunity: Brazilian Newborn Screening with KRECs Enabling Early Diagnosis of Hematologic Disorders
Artículo
Acceso abierto Artículo DOAJ
Beyond Inborn Errors of Immunity: Brazilian Newborn Screening with KRECs Enabling Early Diagnosis of Hematologic Disorders
Paola Suhet et al · Rockefeller University Press · 2026 · ISSN 3065-8993
BackgroundNewborn screening (NBS) with kappa-deleting recombination excision circles (KRECs) is primarily used to detect B cell lymphopenia and agammaglobulinemia as markers of inborn errors of immunity (IEIs). However, ...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Disponible en línea Ficha bibliográfica
Characterizing Pulmonary Gas Exchange in Inborn Errors of Immunity Using Hyperpolarized Xenon MRI
Artículo
Acceso abierto Artículo DOAJ
Characterizing Pulmonary Gas Exchange in Inborn Errors of Immunity Using Hyperpolarized Xenon MRI
Ernest Hoptioncann et al · Rockefeller University Press · 2026 · ISSN 3065-8993
RationaleInborn errors of immunity (IEIs) predispose individuals to recurrent respiratory infections and immune dysregulation, which together can drive inflammatory lung complications, including interstitial lung disease...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Disponible en línea Ficha bibliográfica
Diagnostic Yield and Advantages of Exome/Genome Sequencing in Inborn Errors of Immunity
Artículo
Material complementario disponible Artículo DOAJ
Diagnostic Yield and Advantages of Exome/Genome Sequencing in Inborn Errors of Immunity
Bobbi McGivern et al · Rockefeller University Press · 2026 · ISSN 3065-8993
The rapid annual increase in conditions classified as inborn errors of immunity (IEI), along with associated genetic variants, creates diagnostic challenges. The comprehensive nature of exome sequencing (ES) and genome s...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Material complementario disponibleEl enlace apunta a material asociado, anexos, tablas, datos o página complementaria. No se marca como libro/texto completo.
Material complementario
Abrir material Ficha bibliográfica
Elucidating the Pathogenesis of Chronic Norovirus in Inborn Errors of Immunity: Lessons from Single-Cell Transcriptomics of Biopsies and Patient-Derived Organoids
Artículo
Acceso abierto Artículo DOAJ
Elucidating the Pathogenesis of Chronic Norovirus in Inborn Errors of Immunity: Lessons from Single-Cell Transcriptomics of Biopsies and Patient-Derived Organoids
Jessica Durkee-Shock et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Chronic norovirus infection (CNI) causes significant morbidity and mortality in immunocompromised patients, including those with inborn errors of immunity (IEI). Gastrointestinal samples from patients with CNI demonstrat...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Disponible en línea Ficha bibliográfica
Immunogenetic Screening Reveals Hidden Inborn Errors of Immunity in Pediatric Lymphoproliferative Disorders
Artículo
Acceso abierto Artículo DOAJ
Immunogenetic Screening Reveals Hidden Inborn Errors of Immunity in Pediatric Lymphoproliferative Disorders
Martina Burattin et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Background and AimsPediatric lymphoproliferative disorders (LPD), both malignant and nonmalignant, may conceal underlying inborn errors of immunity (IEI), yet systematic screening is rarely performed. We hypothesized tha...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Disponible en línea Ficha bibliográfica
Impact and Perspectives of Registry-Based Research in Inborn Errors of Immunity/Primary Immune Disorders: Insights from the ESID Registry of 36,681 Patients
Artículo
Acceso abierto Artículo DOAJ
Impact and Perspectives of Registry-Based Research in Inborn Errors of Immunity/Primary Immune Disorders: Insights from the ESID Registry of 36,681 Patients
Markus G. Seidel · Rockefeller University Press · 2026 · ISSN 3065-8993
Clinical research and real-world observational studies are essential for advancing the diagnosis and treatment of rare diseases, such as inborn errors of immunity/primary immune disorders (IEI/PID). To support efficient ...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Disponible en línea Ficha bibliográfica
Innovations in Care of Inborn Errors of Immunity in Brazil: CNE3I, the Brazilian National Center for Inborn Errors of Immunity and Immune Dysregulation Diseases
Artículo
Material complementario disponible Artículo DOAJ
Innovations in Care of Inborn Errors of Immunity in Brazil: CNE3I, the Brazilian National Center for Inborn Errors of Immunity and Immune Dysregulation Diseases
Leonardo Mendonca et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Inborn errors of immunity (IEI), once considered rare, are more common than previously thought, affecting up to 1:1000 individuals, with 555 IEI identified involving variants in 546 genes. This expanded genetic and clini...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Material complementario disponibleEl enlace apunta a material asociado, anexos, tablas, datos o página complementaria. No se marca como libro/texto completo.
Material complementario
Abrir material Ficha bibliográfica
Introducing the MIRACLE Task Force: Maternal Immunity, Reproduction, and Inborn Errors of Immunity Collaboration
Artículo
Material complementario disponible Artículo DOAJ
Introducing the MIRACLE Task Force: Maternal Immunity, Reproduction, and Inborn Errors of Immunity Collaboration
Jessica Galant-Swafford et al · Rockefeller University Press · 2026 · ISSN 3065-8993
IntroductionThe MIRACLE Task Force is a multidisciplinary, multi-institutional work group comprising immunology, genetics, obstetrics/gynecology, and maternal fetal medicine providers dedicated to understanding reproduct...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Material complementario disponibleEl enlace apunta a material asociado, anexos, tablas, datos o página complementaria. No se marca como libro/texto completo.
Material complementario
Abrir material Ficha bibliográfica
Newborn Screening Inborn Errors of Immunity in the Republic of Belarus: The First Pilot Study
Artículo
Acceso abierto Artículo DOAJ
Newborn Screening Inborn Errors of Immunity in the Republic of Belarus: The First Pilot Study
E.A. Polyakova et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Background and AimsThe primary focus of neonatal screening is the early detection of asymptomatic infants with a range of serious diseases for which effective treatment is available and for which early diagnosis and inte...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Disponible en línea Ficha bibliográfica
Prospective Clinical Trial of Mycophenolate Mofetil (MMF) Duration De-Escalation in Allogeneic Hematopoietic Cell Transplantation (HCT) for Inborn Errors of Immunity: Is MMF Dispensable After Reduced Intensity Conditioning, Posttransplantation Cyclophosphamide(Ptcy)-Based HCT?
Artículo
Material complementario disponible Artículo DOAJ
Prospective Clinical Trial of Mycophenolate Mofetil (MMF) Duration De-Escalation in Allogeneic Hematopoietic Cell Transplantation (HCT) for Inborn Errors of Immunity: Is MMF Dispensable After Reduced Intensity Conditioning, Posttransplantation Cyclophosphamide(Ptcy)-Based HCT?
Dimana Dimitrova et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Hematopoietic cell transplantation (HCT) offers curative potential for inborn errors of immunity (IEI) patients, who often enter HCT with significant comorbidities and disease sequelae, active infections, and/or limited ...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Material complementario disponibleEl enlace apunta a material asociado, anexos, tablas, datos o página complementaria. No se marca como libro/texto completo.
Material complementario
Abrir material Ficha bibliográfica
Journal of Inborn Errors of Metabolism and Screening
Artículo
Acceso abierto Artículo DOAJ
Journal of Inborn Errors of Metabolism and Screening
SciELO; Brazil · ISSN 2326-4594
Materias / palabras clave: biochemistry, cell biology, endocrinology, genetics, inborn errors, neonatalogy; Medicine: Medicine (General)
Idioma English
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Disponible en línea Ficha bibliográfica
Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives
Artículo
Acceso abierto Artículo DOAJ
Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives
Arushi Gahlot Saini et al · Frontiers Media S.A · 2026 · ISSN 2296-861X
Cobalamin (vitamin B12) is a vitamin with a defined role in human metabolism. Since its discovery in the 20th century, our understanding of its deficiency that results in multifaceted disorders with a significant impact ...
LCC LCC:Nutrition. Foods and food supplyIdioma eng
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Disponible en línea Ficha bibliográfica
Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers’ burnout and resilience
Artículo
Material complementario disponible Artículo DOAJ
Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers’ burnout and resilience
Ekin Özsaydi Aktaşoğlu et al · BMC · 2026 · ISSN 1471-2431
Abstract Background The resilience status of patients with metabolic diseases and their mothers’ resilience and burnout were evaluated. The relationship between resilience and burnout scores was further investigated. T...
LCC TENDOlBlZGlhdHJpY3M~Idioma eng
Material complementario disponibleEl enlace apunta a material asociado, anexos, tablas, datos o página complementaria. No se marca como libro/texto completo.
Material complementario
Abrir material Ficha bibliográfica
A Biallelic HELIOS Nonsense Mutation Disrupting Dimerization Is Associated with a Novel Syndromic Immunodeficiency
Artículo
Material complementario disponible Artículo DOAJ
A Biallelic HELIOS Nonsense Mutation Disrupting Dimerization Is Associated with a Novel Syndromic Immunodeficiency
Hye Sun Kuehn et al · Rockefeller University Press · 2026 · ISSN 3065-8993
HELIOS is an IKAROS-family zinc-finger transcription factor that plays an important role in regulatory T cell function and conventional T cell homoeostasis. HELIOS shares a conserved N-terminal DNA-binding and C-terminal...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Material complementario disponibleEl enlace apunta a material asociado, anexos, tablas, datos o página complementaria. No se marca como libro/texto completo.
Material complementario
Abrir material Ficha bibliográfica
A Site-Specific LLM-Based PHI Redaction Tool to Support Note De-Identification for the United States Immunodeficiency Network (USIDNET)
Artículo
Acceso abierto Artículo DOAJ
A Site-Specific LLM-Based PHI Redaction Tool to Support Note De-Identification for the United States Immunodeficiency Network (USIDNET)
Vaibhavi Vichare et al · Rockefeller University Press · 2026 · ISSN 3065-8993
The United States Immunodeficiency Network (USIDNET) is a registry that collects de-identified patient data from hospitals across the country to study rare immune conditions, including inborn errors of immunity (IEI). Th...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Disponible en línea Ficha bibliográfica
An Atypical Case of X-Linked Agammaglobulinemia: A Male Child with a Pathogenic Variant in BTK with Preserved IgG and IgM Production and Responsiveness to Tetanus Vaccine
Artículo
Material complementario disponible Artículo DOAJ
An Atypical Case of X-Linked Agammaglobulinemia: A Male Child with a Pathogenic Variant in BTK with Preserved IgG and IgM Production and Responsiveness to Tetanus Vaccine
Nicole Soucy et al · Rockefeller University Press · 2026 · ISSN 3065-8993
BackgroundX-Linked agammaglobulinemia (XLA) is characterized by absent B cell development due to defects in the BTK gene. Patients with this condition have B cell aplasia as well as agammaglobulinemia and impaired vaccin...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Material complementario disponibleEl enlace apunta a material asociado, anexos, tablas, datos o página complementaria. No se marca como libro/texto completo.
Material complementario
Abrir material Ficha bibliográfica
Characteristics of Patients with Predominantly Antibody Deficiencies Undergoing Genetic Testing
Artículo
Material complementario disponible Artículo DOAJ
Characteristics of Patients with Predominantly Antibody Deficiencies Undergoing Genetic Testing
Kevin Ackerman et al · Rockefeller University Press · 2026 · ISSN 3065-8993
RationaleGenetic testing can reveal a molecular diagnosis in 20–40% of patients with inborn errors of immunity (IEI) such as predominantly antibody deficiencies (PAD), though this varies by IEI type and other factors. ...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Material complementario disponibleEl enlace apunta a material asociado, anexos, tablas, datos o página complementaria. No se marca como libro/texto completo.
Material complementario
Abrir material Ficha bibliográfica
Clinical Implications of Novel Monoallelic STAT6 Gain-of Function Variants
Artículo
Acceso abierto Artículo DOAJ
Clinical Implications of Novel Monoallelic STAT6 Gain-of Function Variants
Julia Körholz et al · Rockefeller University Press · 2026 · ISSN 3065-8993
BackgroundPrimary atopic disorders (PADs) are monogenic inborn errors of immunity marked by severe allergic disease. Heterozygous gain-of-function (GOF) variants in STAT6 have recently been recognized as a PAD associated...
LCC LCC:Immunologic diseases. AllergyIdioma eng
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Disponible en línea Ficha bibliográfica