المؤلفون: Nivedita Patni, Craig Chard, David Araújo-Vilar, Helen Phillips, David A. Magee, Baris Akinci

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Diagnosis, Generalized lipodystrophy, Metreleptin, Partial lipodystrophy, Patient journey, Physician perspective, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/e797b6f4aab84c6e8ee22d247b480f80Test

المؤلفون: H. Mosbah, B. Donadille, C. Vatier, S. Janmaat, M. Atlan, C. Badens, P. Barat, S. Béliard, J. Beltrand, R. Ben Yaou, E. Bismuth, F. Boccara, B. Cariou, M. Chaouat, G. Charriot, S. Christin-Maitre, M. De Kerdanet, B. Delemer, E. Disse, N. Dubois, B. Eymard, B. Fève, O. Lascols, P. Mathurin, E. Nobécourt, A. Poujol-Robert, G. Prevost, P. Richard, J. Sellam, I. Tauveron, D. Treboz, B. Vergès, V. Vermot-Desroches, K. Wahbi, I. Jéru, M. C. Vantyghem, C. Vigouroux

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss S1, Pp 1-23 (2022)

مصطلحات موضوعية: Type 2 familial partial lipodystrophy, Dunnigan syndrome, Dunnigan disease, Insulin-resistant diabetes, Diagnosis, Recommendation, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/c3278822ae464ece9712cedafbbea00fTest

المؤلفون: Fernando Corvillo, Giovanni Ceccarini, Pilar Nozal, Silvia Magno, Caterina Pelosini, Sofía Garrido, Alberto López-Lera, Manuela Moraru, Carlos Vilches, Silvia Fornaciari, Sabrina Gabbriellini, Ferruccio Santini, David Araújo-Vilar, Margarita López-Trascasa

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Complement system, Lipodystrophy, Barraquer-Simons syndrome, C3 nephritic factor, Autoimmunity, Acquired partial lipodystrophy, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/a0286d5c92324b9698ac45f6544d6096Test

المؤلفون: Pilar Nozal, Fernando Corvillo, Sabrina Gabbriellini, David Araújo-Vilar, Margarita López-Trascasa, Sofía Garrido, Silvia Fornaciari, Silvia Magno, Giovanni Ceccarini, Caterina Pelosini, Carlos Vilches, Manuela Moraru, Ferruccio Santini, Alberto López-Lera

المساهمون: UAM. Departamento de Medicina, Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ), Universidade de Santiago de Compostela. Centro de Investigación en Medicina Molecular e Enfermidades Crónicas, Universidade de Santiago de Compostela. Departamento de Psiquiatría, Radioloxía, Saúde Pública, Enfermaría e Medicina

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Biblos-e Archivo: Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Biblos-e Archivo. Repositorio Institucional de la UAM
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Male, 0301 basic medicine, Lipodystrophy, lcsh:Medicine, Autoimmunity, medicine.disease_cause, 0302 clinical medicine, Medicine, Pharmacology (medical), Child, Genetics (clinical), Complement C3 Nephritic Factor, education.field_of_study, Acquired partial lipodystrophy, Complement C4, Complement C3, General Medicine, Middle Aged, Female, Complement Factor B, Adult, Complement system, Adolescent, Medicina, Population, Human leukocyte antigen, Complement factor B, Young Adult, 03 medical and health sciences, Humans, C3 nephritic factor, education, Barraquer-Simons syndrome, Aged, Properdin, business.industry, Research, lcsh:R, Autoantibody, Correction, medicine.disease, 030104 developmental biology, Immunology, sense organs, business, 030215 immunology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb8bc2ae910c6141bad3f4a9c091b5b9Test
https://doaj.org/article/a0286d5c92324b9698ac45f6544d6096Test

المؤلفون: Benedetti Sara, Bernasconi Pia, Bertini Enrico, Biagini Elena, Boriani Giuseppe, Capanni Cristina, Carboni Nicola, Cenacchi Giovanna, Columbaro Marta, D'Adamo Monica, D’Amico Adele, D’Apice Maria, Fontana Marianna, Gambineri Alessandra, Lattanzi Giovanna, Liguori Rocco, Maraldi Nadir M, Mazzanti Laura, Mercuri Eugenio, Mongini Tiziana, Morandi Lucia O, Neri Iria, Nigro Giovanni, Novelli Giuseppe, Ortolani Michela, Pasquali Renato, Pini Antonella, Petrini Stefania, Politano Luisa, Previtali Stefano, Pucci Lisa, Rapezzi Claudio, Ricci Giulia, Rodolico Carmelo, Sbraccia Paolo, Scarano Emanuela, Siciliano Gabriele, Squarzoni Stefano, Toscano Antonio, Vercelli Liliana, Ziacchi Matteo

المصدر: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 37 (2012)

مصطلحات موضوعية: Laminopathies, Emery-Dreifuss Muscular Dystrophy, Dilated Cardiomyopathy with Conduction Defects, Mandibuloacral Dysplasia, Familial Partial Lipodystrophy Type 2, Hutchinson-Gilford Progeria Syndrome, Rare Diseases, Networking activity, interdisciplinary approach to diseases, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/a5b1f2c1703844cfbb122a8609d267e6Test

المؤلفون: Camille Vatier, Corinne Vigouroux

المصدر: Orphanet Journal of Rare Diseases

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Leptin, Fatty liver, Hypertriglyceridemia, General Medicine, medicine.disease, Familial partial lipodystrophy, Metreleptin, chemistry.chemical_compound, Insulin resistance, Endocrinology, chemistry, Internal medicine, medicine, Oral Presentation, Glucose homeostasis, Pharmacology (medical), business, Lipoatrophy, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a513a4a84d3d99fc1d06fe26c31de6aaTest
https://doi.org/10.1186/1750-1172-10-s2-o27Test

المؤلفون: Bruno Carbonne, Bruno Donadille, Sophie Christin-Maitre, Marc Sorel, Gilles Cambonie, Nancy Uhrhammer, Pierre Boulot, Corinne Vigouroux, Pascal D’Anella, Pascal Laforêt, Romulus Grigorescu, Martine Auclair, Yves-Jean Bignon, Sophie Ouzounian

المساهمون: CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Endocrinologie-Maladies Métaboliques, Centre Hospitalier Henri Duffaut (Avignon), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de diagnostic génétique et moléculaire, Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER-UNICANCER, Excitabilité nerveuse et thérapeutique (ENT), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-EA 4391, Service de Physiologie Explorations Fonctionnelles-Hôpital Henri Mondor, CHU Trousseau [APHP], Pédiatrie néonatale, Hôpital Arnaud de Villeneuve, Gynéco-Obstétrique, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Physiopathologie des maladies génétiques d'expression pédiatrique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Tenon [AP-HP], This work was supported by grants from Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie (UPMC) and Institute of Cardiometabolism and Nutrition [ICAN], grant no. ANR-10-IAHU., Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Hôpital Henri Mondor-EA 4391, Service de Physiologie Explorations Fonctionnelles-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), BMC, Ed.

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.106. ⟨10.1186/1750-1172-8-106⟩
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.106. ⟨10.1186/1750-1172-8-106⟩

مصطلحات موضوعية: Lipodystrophy, WRN gene, [SDV.GEN] Life Sciences [q-bio]/Genetics, Decreased ovarian reserve, LMNA, 0302 clinical medicine, Progeria, Pregnancy, Genetics(clinical), Pharmacology (medical), Lamin B1, Cells, Cultured, Cellular Senescence, Genetics (clinical), Skin, Medicine(all), 0303 health sciences, 030219 obstetrics & reproductive medicine, RecQ Helicases, Partial Lipodystrophy, General Medicine, 3. Good health, Premature ovarian failure, Premature aging, Female, Werner Syndrome, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Werner Syndrome Helicase, Biology, 03 medical and health sciences, Insulin resistance, Prelamin A, Internal medicine, medicine, Humans, 030304 developmental biology, Werner syndrome, [SDV.GEN]Life Sciences [q-bio]/Genetics, Research, Infant, Newborn, Fibroblasts, medicine.disease, Exodeoxyribonucleases, Endocrinology, Cervical insufficiency, Mutation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77974a40f4819c6432281aadf6ca476dTest