نتائج البحث

Hospital Admission Trends in Alpha-1-Antitrypsin Deficiency: A Sex-Based Analysis from the Spanish National Discharge Database, 2016–2022.

• Authors : de-Miguel-Diez, Javier¹ (AUTHOR) ; Lopez-de-Andres, Ana² (AUTHOR) ; Zamorano-Leon, José J.³ (AUTHOR)

• Source: Journal of Clinical Medicine. Nov2024, Vol. 13 Issue 21, p6564. 14p.

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Alpha 1-Antitrypsin Deficiency: A Disorder of Proteostasis-Mediated Protein Folding and Trafficking Pathways.

• Authors : Karatas E; INSERM, CNRS, UMR1053 Bordeaux Research In Translational Oncology, BaRITOn, University Bordeaux, 33076 Bordeaux, France.; Bouchecareilh M

Subjects: Protein Folding* ; Proteostasis*; Protein Aggregation, Pathological/Protein Aggregation, Pathological/Protein Aggregation, Pathological/*metabolism

• Source: International journal of molecular sciences [Int J Mol Sci] 2020 Feb 21; Vol. 21 (4). Date of Electronic Publication: 2020 Feb 21.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium:

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Induced Pluripotent Stem Cells and CRISPR-Cas9 Innovations for Treating Alpha-1 Antitrypsin Deficiency and Glycogen Storage Diseases.

• Authors : Walsh C; Department of Biomedical Engineering, Thomas J. Watson College of Engineering and Applied Sciences, State University of New York at Binghamton, Binghamton, NY 13902, USA.; Jin S

Subjects: alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/therapy ; alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/genetics ; Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism

• Source: Cells [Cells] 2024 Jun 18; Vol. 13 (12). Date of Electronic Publication: 2024 Jun 18.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium:

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Detection of Alpha-1 Antitrypsin Levels in Chronic Obstructive Pulmonary Disease in Respiratory Clinics in Spain: Results of the EPOCONSUL 2021 Audit.

• Authors : Calle Rubio, Myriam^1,2 (AUTHOR) ; Miravitlles, Marc^3,4 (AUTHOR) ; López-Campos, José Luis^4,5 (AUTHOR)

• Source: Journal of Clinical Medicine. Feb2024, Vol. 13 Issue 4, p955. 15p.

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Genotypic Frequencies of Mutations Associated with Alpha-1 Antitrypsin Deficiency in Unrelated Bone Marrow Donors from the Murcia Region Donor Registry in the Southeast of Spain.

• Authors : Cuenca, Irene¹ (AUTHOR); Botella, Carmen¹ (AUTHOR); Moya-Quiles, María Rosa¹ (AUTHOR)

• Source: Diagnostics (2075-4418). Sep2023, Vol. 13 Issue 17, p2845. 10p.

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Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin.

• Authors : Pérez-Luz S; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.; Lalchandani J

Subjects: alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/genetics ; alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/complications ; alpha 1-Antitrypsin*/alpha 1-Antitrypsin*/alpha 1-Antitrypsin*/genetics

• Source: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 05; Vol. 24 (15). Date of Electronic Publication: 2023 Aug 05.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium:

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Protease-Specific Biomarkers to Analyse Protease Inhibitors for Emphysema Associated with Alpha 1-Antitrypsin Deficiency. An Overview of Current Approaches.

• Authors : Viglio S; Department of Molecular Medicine, University of Pavia, Via Taramelli 3, 27100 Pavia, Italy.; Bak EG

Subjects: Biomarkers*; Peptide Hydrolases/Peptide Hydrolases/Peptide Hydrolases/*metabolism ; Protease Inhibitors/Protease Inhibitors/Protease Inhibitors/*pharmacology

• Source: International journal of molecular sciences [Int J Mol Sci] 2021 Jan 21; Vol. 22 (3). Date of Electronic Publication: 2021 Jan 21.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium:

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Increased Prevalence of Alpha-1-Antitrypsin Deficiency in Patients with Biliary Tract Cancer and Its Associated Clinicopathological Features.

• Authors : Cornillet, Martin¹ (AUTHOR) ; Zemack, Helen² (AUTHOR); Jansson, Hannes³ (AUTHOR)

• Source: Cells (2073-4409). Jun2023, Vol. 12 Issue 12, p1663. 8p.

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Fibrosis-Related Gene Profiling in Liver Biopsies of PiZZ α1-Antitrypsin Children with Different Clinical Courses.

• Authors : Kamp JC; Department of Respiratory Medicine, Hannover Medical School, 30625 Hannover, Germany.; Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH), German Center of Lung Research (DZL), 30625 Hannover, Germany.

Subjects: alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/pathology ; Cholestasis*/Cholestasis*/Cholestasis*/metabolism; Humans

• Source: International journal of molecular sciences [Int J Mol Sci] 2023 Jan 27; Vol. 24 (3). Date of Electronic Publication: 2023 Jan 27.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium:

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Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency.

• Authors : Barzon V; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, University of Pavia, 27100 Pavia, Italy.; Ottaviani S

Subjects: alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/diagnosis ; alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/alpha 1-Antitrypsin Deficiency*/genetics; Alleles

• Source: International journal of molecular sciences [Int J Mol Sci] 2022 Aug 30; Vol. 23 (17). Date of Electronic Publication: 2022 Aug 30.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium:

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