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International Journal of Chronic Obstructive Pulmonary Disease Volume 11, 2016 - Issue
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Original Research

Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach

Irene Belmonte1 Liver Pathology Unit, Department of Biochemistry and Microbiology, Hospital Universitari Vall d’Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain;2 Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain
,
Miriam Barrecheguren3 Pneumology Department, Hospital Universitari Vall d’Hebron, Barcelona, Spain
,
Rosa M López-Martínez4 Biochemistry Department, Hospital Universitari Vall d’Hebron, Barcelona, Spain
,
Cristina Esquinas3 Pneumology Department, Hospital Universitari Vall d’Hebron, Barcelona, Spain
,
Esther Rodríguez3 Pneumology Department, Hospital Universitari Vall d’Hebron, Barcelona, Spain;5 CIBER of Respiratory Diseases, Barcelona, Spain
,
Marc Miravitlles3 Pneumology Department, Hospital Universitari Vall d’Hebron, Barcelona, Spain;5 CIBER of Respiratory Diseases, Barcelona, Spain
&
Francisco Rodríguez-Frías1 Liver Pathology Unit, Department of Biochemistry and Microbiology, Hospital Universitari Vall d’Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain;6 CIBER of Liver and Digestive Diseases, Instituto Nacional de Salud Carlos III, Madrid, SpainCorrespondence[email protected]
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Pages 2535-2541 | Published online: 11 Oct 2016

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Isadora Suárez-Lorenzo, Elisa Hernández-Brito, Lourdes Almeida-Quintana, Cesar García-de Llanos, Nereida González-Quevedo, Teresa Carrillo-Díaz & Carlos Rodríguez-Gallego. (2022) Alpha-1 antitrypsin deficiency hidden in allegedly normal variants. Journal of Asthma 59:7, pages 1372-1375.
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Articles from other publishers (8)

T. Martín, M. Miravitlles & S.T. Furtado. (2021) A PI*MS is not always a PI*MS. An example of when genotyping for alpha-1 antitrypsin deficiency is necessary. Pulmonology 27:3, pages 272-273.
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Emma F. Johnson, Stanislav N. Tolkachjov & Lawrence E. Gibson. (2018) Alpha-1 antitrypsin deficiency panniculitis: clinical and pathologic characteristics of 10 cases. International Journal of Dermatology 57:8, pages 952-958.
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Nerea MatamalaBeatriz Lara, Gema Gomez-MarianoSelene MartínezDiana RetanaTaiomara FernandezRamona Angeles Silvestre, Irene Belmonte, Francisco Rodriguez-Frias, Marçal Vilar, Raquel Sáez, Igor Iturbe, Silvia Castillo, María Molina-Molina, Anna Texido, Gema Tirado-Conde, Jose Luis Lopez-Campos, Manuel Posada, Ignacio Blanco, Sabina Janciauskiene & Beatriz Martinez-Delgado. (2018) Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency . American Journal of Respiratory Cell and Molecular Biology 58:6, pages 706-716.
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Francisco Martínez Bugallo, Juan Marco Figueira Gonçalves & María Dolores Martín Martínez. (2018) Molecular Detection of the Frequent Allele F52del in Alpha 1 Antitrypsin Deficiency. Archivos de Bronconeumología 54:4, pages 236.
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Francisco Martínez Bugallo, Juan Marco Figueira Gonçalves & María Dolores Martín Martínez. (2018) Molecular Detection of the Frequent Allele F52del in Alpha 1 Antitrypsin Deficiency. Archivos de Bronconeumología (English Edition) 54:4, pages 236.
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Gabriel Thabut & Luciano Corda. (2018) Epidemiology, Diagnosis and Available Treatment for Alpha 1 Antitrypsin Deficiency-related Emphysema in Europe. European Respiratory & Pulmonary Diseases 4:1, pages 25.
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Irene Belmonte, Miriam Barrecheguren, Cristina Esquinas, Esther Rodríguez, Marc Miravitlles & Francisco Rodríguez-Frías. (2017) Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples. Clinical Chemistry and Laboratory Medicine (CCLM) 55:9.
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Irene Belmonte, Luciana Montoto & Francisco Rodríguez-Frías. 2017. Alpha-1 Antitrypsin Deficiency. Alpha-1 Antitrypsin Deficiency 45 60 .

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