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المؤلفون: Tajan A; School of Medicine, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile., Riebel A; School of Medicine, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile., Zavala MJ; Department of Neonatology, Hospital Base Valdivia, Valdivia, Chile., Quiroz L; Department of Pediatrics, Hospital Base Valdivia, Valdivia, Chile.; Institute of Pediatrics, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile., Monzón P; Department of Pediatrics, Hospital Base Valdivia, Valdivia, Chile.; Institute of Pediatrics, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile., Ardiles L; Nephrology Laboratory, Institute of Medicine, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile., Krall P; Nephrology Laboratory, Institute of Medicine, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile.; Department of Pediatrics and Child Surgery, Faculty of Medicine, University of Chile, Santiago, Chile., Lehmann P; Department of Pediatrics, Hospital Base Valdivia, Valdivia, Chile. paulalehmann@gmail.com.; Institute of Pediatrics, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile. paulalehmann@gmail.com.

المصدر: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Feb; Vol. 39 (2), pp. 447-450. Date of Electronic Publication: 2023 Sep 08.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondrial Diseases*/complications , Mitochondrial Diseases*/diagnosis , Mitochondrial Diseases*/genetics , Anemia*/diagnosis , Myelodysplastic Syndromes*/complications , Myelodysplastic Syndromes*/diagnosis , Myelodysplastic Syndromes*/genetics , Exocrine Pancreatic Insufficiency*, Infant ; Humans ; Female ; Child, Preschool ; DNA, Mitochondrial/genetics

SCR Disease Name: VLCAD deficiency

المؤلفون: Poli MC; Program for Immunogenetics and Translational Immunology, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Hospital Dr. Roberto del Río, Santiago, Chile., Rebolledo-Jaramillo B; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Lagos C; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Orellana J; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Moreno G; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Martín LM; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Unidad de Gestión Clínica del Niño, Hospital Padre Hurtado, Santiago, Chile., Encina G; Biosoluciones UDD, Santiago, Chile., Böhme D; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Biosoluciones UDD, Santiago, Chile., Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile., Zavala MJ; Hospital Base de Valdivia, Valdivia, Chile., Hasbún T; Department of Dermatology, Facultad de Medicina Universidad del Desarrollo, Clínica Alemana de Santiago, Vitacura, Chile.; Department of Dermatology, Hospital Exequiel González Cortés, Vitacura, Chile., Fischer S; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Brito F; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Araya D; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Lira M; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., de la Cruz J; Program for Immunogenetics and Translational Immunology, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Astudillo C; Hospital Dr. Roberto del Río, Santiago, Chile., Lay-Son G; Division of Pediatrics, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile., Cares C; Genetics Unit, Hospital Dr Luis Calvo Mackenna, Santiago, Chile., Aracena M; Genetics Unit, Hospital Dr Luis Calvo Mackenna, Santiago, Chile., Martin ES; Hospital Dr Guillermo Grant Benavente, Concepcion, Chile., Coban-Akdemir Z; University of Texas Health Science Center at Houston, School of Public Health, Department of Epidemiology, Human Genetics and Environmental Sciences, Santiago, Chile.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile. grepetto@udd.cl.; Unidad de Gestión Clínica del Niño, Hospital Padre Hurtado, Santiago, Chile. grepetto@udd.cl.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jan 04. Date of Electronic Publication: 2024 Jan 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

المؤلفون: Arroabarren E; Servicio de Alergología, Hospital Universitario de Navarra (HUN), Pamplona, Spain., García BE; Servicio de Alergología, Hospital Universitario de Navarra (HUN), Pamplona, Spain.; CIBER de Enfermedades Respiratorias (CIBERES), Spain.; IDISNA Health Research Institute (Instituto de Investigación Sanitaria de Navarra), Pamplona, Spain., Anda M; Servicio de Alergología, Hospital Universitario de Navarra (HUN), Pamplona, Spain., Pesántez C; Servicio de Alergología, Hospital Universitario de Navarra (HUN), Pamplona, Spain., Zavala MJ; Servicio de Alergología, Hospital Universitario de Navarra (HUN), Pamplona, Spain., Olaguibel JM; Servicio de Alergología, Hospital Universitario de Navarra (HUN), Pamplona, Spain.; CIBER de Enfermedades Respiratorias (CIBERES), Spain.

المصدر: Journal of investigational allergology & clinical immunology [J Investig Allergol Clin Immunol] 2023 Dec 14; Vol. 33 (6), pp. 483-486. Date of Electronic Publication: 2023 Apr 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Esmon Publicidad Country of Publication: Spain NLM ID: 9107858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1018-9068 (Print) Linking ISSN: 10189068 NLM ISO Abbreviation: J Investig Allergol Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Anaphylaxis*/diagnosis, Humans ; Allergens ; Immunoglobulin E ; Research

المؤلفون: Zavala MJ; Division of Pulmonary and Critical Care Medicine, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA., Becker GL, Blount RJ

المصدر: Current opinion in pulmonary medicine [Curr Opin Pulm Med] 2023 Mar 01; Vol. 29 (2), pp. 104-111. Date of Electronic Publication: 2023 Jan 17.

نوع المنشور: Review; Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9503765 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-6971 (Electronic) Linking ISSN: 10705287 NLM ISO Abbreviation: Curr Opin Pulm Med Subsets: MEDLINE

مواضيع طبية MeSH: Pulmonary Disease, Chronic Obstructive* , Tuberculosis*/epidemiology , Air Pollution*, Humans ; Prospective Studies ; Risk Factors

المؤلفون: Alvarez-Puebla MJ; Unidad de Asma Grave, Complejo Hospitalario de Navarra, Pamplona, Spain.; Servicio de Alergología, Complejo Hospitalario de Navarra, Pamplona, Spain.; NavarraBioMed, Gobierno de Navarra, Pamplona, Spain.; CIBER Respiratorio., Arroabarren E; Servicio de Alergología, Complejo Hospitalario de Navarra, Pamplona, Spain., Zavala MJ; Servicio de Alergología, Complejo Hospitalario de Navarra, Pamplona, Spain., Corcuera A; Servicio de Alergología, Complejo Hospitalario de Navarra, Pamplona, Spain.; NavarraBioMed, Gobierno de Navarra, Pamplona, Spain., Olaguibel A; NavarraBioMed, Gobierno de Navarra, Pamplona, Spain., Olaguibel JM; Unidad de Asma Grave, Complejo Hospitalario de Navarra, Pamplona, Spain.; Servicio de Alergología, Complejo Hospitalario de Navarra, Pamplona, Spain.; NavarraBioMed, Gobierno de Navarra, Pamplona, Spain.; CIBER Respiratorio.

المصدر: Journal of investigational allergology & clinical immunology [J Investig Allergol Clin Immunol] 2019; Vol. 29 (4), pp. 335-337. Date of Electronic Publication: 2019 Apr 16.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Esmon Publicidad Country of Publication: Spain NLM ID: 9107858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1018-9068 (Print) Linking ISSN: 10189068 NLM ISO Abbreviation: J Investig Allergol Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Anti-Asthmatic Agents/*therapeutic use , Asthma/*drug therapy , Asthma/*etiology , Eosinophils/*immunology, Anti-Asthmatic Agents/pharmacology ; Asthma/diagnosis ; Biological Therapy/methods ; Biomarkers ; Eosinophils/metabolism ; Eosinophils/pathology ; Female ; Humans ; Leukocyte Count ; Male ; Middle Aged ; Treatment Outcome

المؤلفون: Martinez Hernández-Magro P; Colon and Rectal Surgery Department, Speciality Hospital National Medical Center 21st Century IMSS, Mexico City, Mexico. paulinomhm@hotmail.com, Barrera Román C, Villanueva Sáenz E, Zavala MJ

المصدر: Techniques in coloproctology [Tech Coloproctol] 2006 Dec; Vol. 10 (4), pp. 353-5. Date of Electronic Publication: 2006 Nov 27.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 9613614 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1123-6337 (Print) Linking ISSN: 11236337 NLM ISO Abbreviation: Tech Coloproctol Subsets: MEDLINE

مواضيع طبية MeSH: Colon/*injuries , Intestinal Perforation/*etiology , Intestinal Perforation/*surgery , Ventriculoperitoneal Shunt/*adverse effects, Adult ; Female ; Humans ; Hydrocephalus/therapy ; Intestinal Perforation/diagnosis