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Article ; Online: Treg in inborn errors of immunity: gaps, knowns and future perspectives.

Kennedy-Batalla, Rebeca / Acevedo, Daniel / Luo, Yiyi / Esteve-Solé, Ana / Vlagea, Alexandru / Correa-Rocha, Rafael / Seoane-Reula, Ma Elena / Alsina, Laia

Frontiers in immunology

2024 Volume 14, Page(s) 1278759

Abstract: Regulatory T cells (Treg) are essential for immune balance, preventing overreactive responses and autoimmunity. Although traditionally characterized as CD4+CD25+ ... ...

Abstract	Regulatory T cells (Treg) are essential for immune balance, preventing overreactive responses and autoimmunity. Although traditionally characterized as CD4+CD25+CD127
MeSH term(s)	Humans ; T-Lymphocytes, Regulatory ; Autoimmune Diseases ; Autoimmunity ; Databases, Factual ; Mutation
Language	English
Publishing date	2024-01-08
Publishing country	Switzerland
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2023.1278759
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Article ; Online: Changes in Treg and Breg cells in a healthy pediatric population.

Luo, Yiyi / Acevedo, Daniel / Vlagea, Alexandru / Codina, Anna / García-García, Ana / Deyà-Martínez, Angela / Martí-Castellote, Celia / Esteve-Solé, Ana / Alsina, Laia

Frontiers in immunology

2023 Volume 14, Page(s) 1283981

Abstract: The interpretation of clinical diagnostic results in suspected inborn errors of immunity, including Tregopathies, is hampered by the lack of age-stratified reference values for regulatory T cells (Treg) in the pediatric population and a consensus on ... ...

Abstract	The interpretation of clinical diagnostic results in suspected inborn errors of immunity, including Tregopathies, is hampered by the lack of age-stratified reference values for regulatory T cells (Treg) in the pediatric population and a consensus on which Treg immunophenotype to use. Regulatory B cells (Breg) are an important component of the regulatory system that have been poorly studied in the pediatric population. We analyzed (1) the correlation between the three immunophenotypic definitions of Treg (CD4
MeSH term(s)	Humans ; Child ; Child, Preschool ; T-Lymphocytes, Regulatory ; B-Lymphocytes, Regulatory ; Flow Cytometry ; Antigens, CD19 ; Forkhead Transcription Factors/genetics
Chemical Substances	Antigens, CD19 ; Forkhead Transcription Factors
Language	English
Publishing date	2023-11-21
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2023.1283981
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Article ; Online: Prison as a driver of recent transmissions of multidrug-resistant tuberculosis in Callao, Peru: a cross-sectional study.

Utpatel, Christian / Zavaleta, Milagros / Rojas-Bolivar, Daniel / Mühlbach, Andreas / Picoy, Janet / Portugal, Walter / Esteve-Solé, Ana / Alsina, Laia / Miotto, Paolo / Bartholomeu, Daniella C / Sanchez, Jorge / Cuadros, Diego F / Alarcon, Jorge O / Niemann, Stefan / Huaman, Moises A

Lancet regional health. Americas

2024 Volume 31, Page(s) 100674

Abstract: Background: We sought to identify resistance patterns and key drivers of recent multidrug-resistant tuberculosis (MDR-TB) transmission in a TB-prevalent area in Peru.: Methods: Cross-sectional study including MDR : Findings: 171 unique MDR-Mtbc ... ...

Abstract	Background: We sought to identify resistance patterns and key drivers of recent multidrug-resistant tuberculosis (MDR-TB) transmission in a TB-prevalent area in Peru. Methods: Cross-sectional study including MDR Findings: 171 unique MDR-Mtbc strains were included; 22 (13%) had additional fluoroquinolone resistance and were classified as pre-XDR. Six strains (3.5%) harboured bedaquiline (BDQ) resistance mutations and were classified as MDR + BDQ. 158 (92%) Mtbc strains belonged to lineage 4 and 13 (8%) to lineage 2. Using a cluster threshold of ≤5 SNPs, 98 (57%) strains were grouped in one of the 17 D5 clusters indicative of recent transmission, ranging in size from 2 to the largest cluster formed by 53 4.3.3 strains (group_1). Lineage 4.3.3 strains showed the overall highest cluster rate (43%). In multivariate analyses, current or previous imprisonment was independently associated with being part of any MDR-TB transmission clusters (adjusted prevalence ratio [aPR], 1.45; 95% CI, 1.09-1.92). Interpretation: Pre-XDR-TB emerged in more than 10% of the MDR-TB strains investigated. Transmission of 4.3.3 Mtbc strains especially of the dominant group_1 clone is a major driver of the MDR-TB epidemic in Callao. Current or previous imprisonment was linked to recent MDR-TB transmissions, indicating an important role of prisons in driving the MDR-TB epidemic. Funding: This work was supported in part by the ERANet-LAC Network of the European Union, Latin America and the Caribbean Countries on Joint Innovation and Research Activities, and FONDECYT. Additional support was received from Leibniz Science Campus Evolutionary Medicine of the Lung, the Deutsche Forschungsgemeinschaft (German Research Foundation, under Germany's Excellence Strategy-EXC 2167 Precision Medicine in Inflammation), and the Research Training Group 2501 TransEvo.
Language	English
Publishing date	2024-01-20
Publishing country	England
Document type	Journal Article
ISSN	2667-193X
ISSN (online)	2667-193X
DOI	10.1016/j.lana.2024.100674
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Article ; Online: Acute and long-term immune responses to SARS-CoV-2 infection in unvaccinated children and young adults with inborn errors of immunity.

García-García, Ana / Fortuny, Claudia / Fumadó, Victoria / Jordan, Iolanda / Ruiz-López, Laura / González-Navarro, Europa Azucena / Egri, Natalia / Esteve-Solé, Ana / Luo, Yiyi / Vlagea, Alexandru / Cabedo, Manel Monsonís / Launes, Cristian / Soler, Aleix / Codina, Anna / Juan, Manel / Pascal, Mariona / Deyà-Martínez, Angela / Alsina, Laia

Frontiers in immunology

2023 Volume 14, Page(s) 1084630

Abstract: Purpose: To describe SARS-CoV-2 infection outcome in unvaccinated children and young adults with inborn errors of immunity (IEI) and to compare their specific acute and long-term immune responses with a sex-, age-, and severity-matched healthy ... ...

Abstract	Purpose: To describe SARS-CoV-2 infection outcome in unvaccinated children and young adults with inborn errors of immunity (IEI) and to compare their specific acute and long-term immune responses with a sex-, age-, and severity-matched healthy population (HC). Methods: Unvaccinated IEI patients up to 22 years old infected with SARS-CoV-2 were recruited along with a cohort of HC. SARS-CoV-2 serology and ELISpot were performed in the acute phase of infection (up to 6 weeks) and at 3, 6, 9, and 12 months. Results: Twenty-five IEI patients (median age 14.3 years, min.-max. range 4.5-22.8; 15/25 males; syndromic combined immunodeficiencies: 48.0%, antibody deficiencies: 16.0%) and 17 HC (median age 15.3 years, min.-max. range 5.4-20.0; 6/17 males, 35.3%) were included. Pneumonia occurred in 4/25 IEI patients. In the acute phase SARS-CoV-2 specific immunoglobulins were positive in all HC but in only half of IEI in whom it could be measured (n=17/25): IgG Conclusions: Our IEI pediatric cohort had a higher COVID-19 pneumonia rate than the general age-range population, with lower humoral and cellular responses in the acute phase (even lower compared to the reported IEI serological response after SARS-CoV-2 vaccination), and weaker humoral responses at 6 months after infection compared with HC.
MeSH term(s)	Male ; Humans ; Child ; Young Adult ; Adolescent ; COVID-19 ; SARS-CoV-2 ; COVID-19 Vaccines ; Immunoglobulin M ; Primary Immunodeficiency Diseases ; Immunity ; Immunoglobulin A ; Immunoglobulin G
Chemical Substances	COVID-19 Vaccines ; Immunoglobulin M ; Immunoglobulin A ; Immunoglobulin G
Language	English
Publishing date	2023-01-20
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2023.1084630
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Article ; Online: Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.

Parrado, Antonio / Rubio, Gonzalo / Serrano, Mercedes / De la Morena-Barrio, María Eugenia / Ibáñez-Micó, Salvador / Ruiz-Lafuente, Natalia / Schwartz-Albiez, Reinhard / Esteve-Solé, Ana / Alsina, Laia / Corral, Javier / Hernández-Caselles, Trinidad

Glycobiology

2021 Volume 32, Issue 2, Page(s) 84–100

Abstract: Congenital disorders of glycosylation (CDG) include 150 genetically and clinically heterogeneous diseases, showing significant glycoprotein hypoglycosylation that leads to pathological consequences in multiple organs and systems whose underlying ... ...

Abstract	Congenital disorders of glycosylation (CDG) include 150 genetically and clinically heterogeneous diseases, showing significant glycoprotein hypoglycosylation that leads to pathological consequences in multiple organs and systems whose underlying mechanisms are not yet understood. A few cellular and animal models have been used to study specific CDG characteristics, although they have given limited information due to the few CDG mutations tested and the still missing comprehensive molecular and cellular basic research. Here, we provide specific gene expression profiles, based on ribonucleic acid (RNA) microarray analysis, together with some biochemical and cellular characteristics of a total of nine control Epstein-Barr virus-transformed lymphoblastoid B cell lines (B-LCL) and 13 CDG B-LCL from patients carrying severe mutations in the phosphomannomutase 2 (PMM2) gene, strong serum protein hypoglycosylation and neurological symptoms. Significantly dysregulated genes in PMM2-CDG cells included those regulating stress responses, transcription factors, glycosylation, motility, cell junction and, importantly, those related to development and neuronal differentiation and synapse, such as carbonic anhydrase 2 (CA2) and ADAM23. PMM2-CDG-associated biological consequences involved the unfolded protein response, RNA metabolism and the endoplasmic reticulum, Golgi apparatus and mitochondria components. Changes in the transcriptional and CA2 protein levels are consistent with the CDG physiopathology. These results demonstrate the global transcriptional impact in phosphomannomutase 2-deficient cells, reveal CA2 as a potential cellular biomarker and confirm B-LCL as an advantageous model for CDG studies.
MeSH term(s)	Animals ; Cell Line ; Congenital Disorders of Glycosylation/genetics ; Congenital Disorders of Glycosylation/metabolism ; Epstein-Barr Virus Infections ; Glycosylation ; Herpesvirus 4, Human/genetics ; Herpesvirus 4, Human/metabolism ; Humans ; Phosphotransferases (Phosphomutases)/deficiency ; RNA/metabolism
Chemical Substances	RNA (63231-63-0) ; Phosphotransferases (Phosphomutases) (EC 5.4.2.-) ; phosphomannomutase (EC 5.4.2.8)
Language	English
Publishing date	2021-07-19
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1067689-2
ISSN	1460-2423 ; 0959-6658
ISSN (online)	1460-2423
ISSN	0959-6658
DOI	10.1093/glycob/cwab087
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Article ; Online: Single-cycle rituximab-induced immunologic changes in children: Enhanced in neuroimmunologic disease?

Deyà-Martínez, Angela / Gordón, Yadira / Molina-Anguita, Cristina / Vlagea, Alexandru / Piquer, Monica / Juan, Manel / Esteve-Solé, Ana / Antón, Jordi / Madrid, Álvaro / García-García, Ana / Plaza, Ana M / Armangue, Thaís / Alsina, Laia

Neurology(R) neuroimmunology & neuroinflammation

2020 Volume 7, Issue 4

Abstract: Objective: To investigate the immunologic impact of a single cycle of rituximab (RTX) in children and adolescents with immune-mediated disorders, we evaluated B cells and immunoglobulin levels of 20 patients with neuroimmunologic, nephrologic, ... ...

Abstract	Objective: To investigate the immunologic impact of a single cycle of rituximab (RTX) in children and adolescents with immune-mediated disorders, we evaluated B cells and immunoglobulin levels of 20 patients with neuroimmunologic, nephrologic, dermatologic, and rheumatologic disorders treated under recommended guidelines. Methods: Retrospective study of immunologic changes in children (aged ≤18 years) diagnosed with immune-mediated disorders in which RTX was prescribed between June 2014 and February 2019. Patients were excluded if they had prior diagnosis of malignant disease or primary immunodeficiency. Patients were clinically and immunologically followed up every 3 months. Only patients having received a single cycle of RTX and with a follow-up greater than 12 months were included in the analysis of persistent dysgammaglobulinemia. Results: Twenty children were included. Median age at RTX treatment was 12.8 years (interquartile range [IQR] 6.6-15.5 years). Median follow-up was 12.6 months (IQR 10.2-24 months). Of the 14 patients eligible for persistent dysgammaglobulinemia analysis (3 had received RTX retreatment, 2 had <12 months post-RTX follow-up, and in 1 data for this time point was missing), 2/14 (14%) remained with complete B-cell depletion, and 5/14 (36%) had dysgammaglobulinemia. Patients with dysgammaglobulinemia were younger (7.8 vs 15.6 years, Conclusion: In our cohort, single-cycle RTX-induced dysgammaglobulinemia was enhanced in patients with neuroimmunologic diseases. Further studies are needed to confirm this observation.
MeSH term(s)	Adolescent ; B-Lymphocytes/drug effects ; Child ; Child, Preschool ; Dysgammaglobulinemia/chemically induced ; Female ; Follow-Up Studies ; Humans ; Immune System Diseases/drug therapy ; Immunologic Factors/administration & dosage ; Immunologic Factors/adverse effects ; Male ; Retrospective Studies ; Rituximab/administration & dosage ; Rituximab/adverse effects
Chemical Substances	Immunologic Factors ; Rituximab (4F4X42SYQ6)
Language	English
Publishing date	2020-05-06
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2767740-0
ISSN	2332-7812 ; 2332-7812
ISSN (online)	2332-7812
ISSN	2332-7812
DOI	10.1212/NXI.0000000000000724
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Article ; Online: B Regulatory Cells: Players in Pregnancy and Early Life.

Esteve-Solé, Ana / Luo, Yiyi / Vlagea, Alexandru / Deyà-Martínez, Ángela / Yagüe, Jordi / Plaza-Martín, Ana María / Juan, Manel / Alsina, Laia

International journal of molecular sciences

2018 Volume 19, Issue 7

Abstract: Pregnancy and early infancy represent two very particular immunological states. During pregnancy, the haploidentical fetus and the pregnant women develop tolerance mechanisms to avoid rejection; then, just after birth, the neonatal immune system must ... ...

Abstract	Pregnancy and early infancy represent two very particular immunological states. During pregnancy, the haploidentical fetus and the pregnant women develop tolerance mechanisms to avoid rejection; then, just after birth, the neonatal immune system must modulate the transition from the virtually sterile but haploidentical uterus to a world full of antigens and the rapid microbial colonization of the mucosa. B regulatory (Breg) cells are a recently discovered B cell subset thought to play a pivotal role in different conditions such as chronic infections, autoimmunity, cancer, and transplantation among others in addition to pregnancy. This review focuses on the role of Breg cells in pregnancy and early infancy, two special stages of life in which recent studies have positioned Breg cells as important players.
MeSH term(s)	B-Lymphocytes, Regulatory/metabolism ; Disease ; Female ; Health ; Humans ; Immune System/metabolism ; Infant, Newborn ; Pregnancy
Language	English
Publishing date	2018-07-19
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms19072099
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Article ; Online: Expected impact of immunomodulatory agents during pregnancy: A newborn's perspective.

Luo, Yiyi / Acevedo, Daniel / Baños, Núria / Pluma, Andrea / Castellanos-Moreira, Raúl / Moreno, Estefania / Rodríguez-García, Sebastian / Deyà-Martínez, Angela / García-García, Ana / Quesada-Masachs, Estefania / Torres, Mireia / Casellas, Manel / Grados, Dolors / Martí-Castellote, Celia / Antón, Jordi / Vlagea, Alexandru / Juan, Manel / Esteve-Solé, Ana / Alsina, Laia

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

2022 Volume 34, Issue 2, Page(s) e13911

Abstract: The neonatal immune ontogeny begins during pregnancy to ensure that the neonate is well-suited for perinatal life. It prioritizes Th2/M2 and regulatory responses over Th/M1 activity to avoid excessive inflammatory responses and to ensure immune tolerance ...

Abstract	The neonatal immune ontogeny begins during pregnancy to ensure that the neonate is well-suited for perinatal life. It prioritizes Th2/M2 and regulatory responses over Th/M1 activity to avoid excessive inflammatory responses and to ensure immune tolerance and homeostasis. Newborns also present increased Th17/Th22 responses providing effective anti-fungal immunity and mucosal protection. Intrauterine exposure to immune modulatory drugs with the placental transfer may influence the natural course of the fetal immune development. The vertical transfer of both biological therapy and small molecules begins during the first trimester through neonatal Fc receptor or placental diffusion, respectively, reaching its maximum transfer potential during the third trimester of pregnancy. Most of the biological therapy have a prolonged half-life in newborn's blood, being detectable in infants up to 12 months after birth (usually 6-9 months). The use of immunomodulators during pregnancy is gaining global interest. Current evidence mainly reports birth-related outcomes without exhaustive analysis of the on-target side effect on the perinatal immune system ontogeny, the infection risk, or the immune dysregulation. The present review will focus on: (1) the main characteristics of the perinatal immune system to understand its specific features and vulnerabilities to immune modulation; (2) the mechanisms of placental transfer of immunomodulators; and (3) the immune changes reported to date in newborns exposed to immunomodulators with emphasis on the current concerns and gaps in knowledge.
MeSH term(s)	Infant ; Pregnancy ; Infant, Newborn ; Humans ; Female ; Placenta ; Immunomodulating Agents ; Parturition
Chemical Substances	Immunomodulating Agents
Language	English
Publishing date	2022-11-22
Publishing country	England
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	1057059-7
ISSN	1399-3038 ; 0905-6157 ; 0906-5784
ISSN (online)	1399-3038
ISSN	0905-6157 ; 0906-5784
DOI	10.1111/pai.13911
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Article: Characterization of the Highly Prevalent Regulatory CD24

Esteve-Solé, Ana / Teixidó, Irene / Deyà-Martínez, Angela / Yagüe, Jordi / Plaza-Martín, Ana M / Juan, Manel / Alsina, Laia

Frontiers in immunology

2017 Volume 8, Page(s) 201

Abstract: The newborn's immune system must transition from a sterile haploidentical uterus to the world full of antigens. Regulatory B-cells (Breg; broadly defined as ... ...

Abstract	The newborn's immune system must transition from a sterile haploidentical uterus to the world full of antigens. Regulatory B-cells (Breg; broadly defined as CD19
Language	English
Publishing date	2017
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606827-8
ISSN	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2017.00201
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Article ; Online: Primary immunodeficiency and chronic mucocutaneous candidiasis: pathophysiological, diagnostic, and therapeutic approaches.

Egri, Natalia / Esteve-Solé, Ana / Deyà-Martínez, Àngela / Ortiz de Landazuri, Iñaki / Vlagea, Alexandru / García, A P / Cardozo, Celia / Garcia-Vidal, Carolina / Bartolomé, Clara San / Español-Rego, Marta / Yiyi, L / Bosch-Amate, Xavier / Ferrando, J / Yagüe, Jordi / Juan, Manel / Alsina, Laia

Allergologia et immunopathologia

2021 Volume 49, Issue 1, Page(s) 118–127

Abstract: Chronic mucocutaneous candidiasis (CMC) is characterized by a chronic or recurrent non-invasive infection, mainly due ... ...

Abstract	Chronic mucocutaneous candidiasis (CMC) is characterized by a chronic or recurrent non-invasive infection, mainly due to
MeSH term(s)	Azoles/therapeutic use ; Candida/immunology ; Candida/isolation & purification ; Candidiasis, Chronic Mucocutaneous/diagnosis ; Candidiasis, Chronic Mucocutaneous/genetics ; Candidiasis, Chronic Mucocutaneous/immunology ; Candidiasis, Chronic Mucocutaneous/therapy ; Humans ; Interleukin-17/genetics ; Interleukin-17/immunology ; Janus Kinase Inhibitors/therapeutic use ; Mutation ; Primary Immunodeficiency Diseases/diagnosis ; Primary Immunodeficiency Diseases/genetics ; Primary Immunodeficiency Diseases/immunology ; Primary Immunodeficiency Diseases/therapy ; STAT1 Transcription Factor/genetics ; STAT1 Transcription Factor/immunology ; Th17 Cells/immunology ; Th17 Cells/pathology
Chemical Substances	Azoles ; Interleukin-17 ; Janus Kinase Inhibitors ; STAT1 Transcription Factor ; STAT1 protein, human
Language	English
Publishing date	2021-01-02
Publishing country	Singapore
Document type	Journal Article ; Review
ZDB-ID	193144-1
ISSN	1578-1267 ; 0301-0546
ISSN (online)	1578-1267
ISSN	0301-0546
DOI	10.15586/aei.v49i1.20
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