المؤلفون: Olofsson, Sara, Löfvendahl, Sofia, Widén, Julia, Rudebeck, Mattias, Lindgren, Peter, Stepien, Karolina M., Arnoux, Jean Baptiste, Luz Couce Pico, Maria, Leão Teles, Elisa, Jacobson, Lena

المصدر: Journal of Medical Economics. 27(1):1146-1156

مصطلحات موضوعية: Arginase 1 deficiency, caregiver, health-related quality-of-life, societal cost, survey, Medicin och hälsovetenskap, Hälsovetenskap, Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi, Medical and Health Sciences, Health Sciences, Health Care Service and Management, Health Policy and Services and Health Economy

URL الوصول: https://lup.lub.lu.se/record/f8fd0d6b-6a2a-44d6-931f-7f76efa4c16c
http://dx.doi.org/10.1080/13696998.2024.2400856

المؤلفون: Katschen, Sophie, Arnoux, Jean-Baptiste, de HALLEUX, Virginie, Parent, Anne-Simone, FUDVOYE, Julie

المصدر: Climate changes in pediatrics: from society to environment, Bruxelles, Belgium [BE], Du 16 au 17 mars 2023

مصطلحات موضوعية: Human health sciences, Pediatrics, Endocrinology, metabolism & nutrition, Sciences de la santé humaine, Pédiatrie, Endocrinologie, métabolisme & nutrition

وصف الملف: 1

URL الوصول: https://orbi.uliege.be/handle/2268/314120

المؤلفون: Taylor, Sophie, Dobbin, Nicholas, Imrich, Richard, Arnoux, Jean-Baptiste, Lakshminarayan, Ranganath

وصف الملف: text

Relation: https://e-space.mmu.ac.uk/637697/; https://doi.org/10.1080/09638288.2024.2447363

الاتاحة: https://e-space.mmu.ac.uk/637697/10/The%20effects%20of%20age%20and%20sex%20on%20active%20and%20passive%20hip%20range%20of%20motion%20in%20individuals%20with%20alkaptonuria.pdf

المؤلفون: Arnoux, Jean-Baptiste, Douillard, Claire, Maillot, Francois, Bouée, Stéphane, Jacob, Christian, Schneider, Kim Maren, Theil, Julia, Charrière, Sybil

المساهمون: Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Université de Tours (UT), CEMKA, Xcenda GmbH Hannover, Germany, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)

المصدر: EISSN: 2214-4269 ; Molecular Genetics and Metabolism Reports ; https://hal.inrae.fr/hal-04890990 ; Molecular Genetics and Metabolism Reports, 2024, 41, pp.101134. ⟨10.1016/j.ymgmr.2024.101134⟩

مصطلحات موضوعية: Phenylketonuria (PKU), Healthcare costs, Hospitalizations, Outpatient care, SNDS health insurance data, France, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/39253300; PUBMED: 39253300; WOS: 001311747700001

الاتاحة: https://hal.inrae.fr/hal-04890990
https://hal.inrae.fr/hal-04890990v1/document
https://hal.inrae.fr/hal-04890990v1/file/2024_Arnoux_Mol_Gen_Metabol_Rep.pdf
https://doi.org/10.1016/j.ymgmr.2024.101134

المؤلفون: Feillet, François, Ficicioglu, Can, Lagler, Florian B., Longo, Nicola, Muntau, Ania C., Burlina, Alberto, Trefz, Friedrich K., van Spronsen, Francjan J., Arnoux, Jean Baptiste, Lindstrom, Kristin, Lilienstein, Joshua, Clague, Gillian E., Rowell, Richard, Burton, Barbara K.

المصدر: the KAMPER and PKUDOS investigators , Feillet , F , Ficicioglu , C , Lagler , F B , Longo , N , Muntau , A C , Burlina , A , Trefz , F K , van Spronsen , F J , Arnoux , J B , Lindstrom , K , Lilienstein , J , Clague , G E , Rowell , R & Burton , B K 2024 , ' Efficacy and safety of sapropterin before and during pregnancy : Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and ....

مصطلحات موضوعية: BH, maternal PKU, PKU, pregnancy, registry, sapropterin

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/b49bd7c4-7176-4757-bdaa-adc24343b3f6
https://research.rug.nl/en/publications/b49bd7c4-7176-4757-bdaa-adc24343b3f6
https://doi.org/10.1002/jimd.12724
https://pure.rug.nl/ws/files/1076717161/J_of_Inher_Metab_Disea_-_2024_-_Feillet_-_Efficacy_and_safety_of_sapropterin_before_and_during_pregnancy_Final_analysis_of.pdf
http://www.scopus.com/inward/record.url?scp=85186882121&partnerID=8YFLogxK

المؤلفون: Telehuz, Daniela, Plesa, Oana, Bouilloud, Florence, Wucher, Helene, De Lonlay, Pascale, Bérat, Claire-Marine, Saint-Martin, Cécile, Dupuy, Olivier, Arnoux, Jean-Baptiste

المصدر: Frontiers in Endocrinology ; volume 15 ; ISSN 1664-2392

الاتاحة: http://dx.doi.org/10.3389/fendo.2024.1408003
https://www.frontiersin.org/articles/10.3389/fendo.2024.1408003/full

المؤلفون: Arribas-Carreira, Laura, Dallabona, Cristina, Swanson, Michael A, Farris, Joseph, Østergaard, Elsebet, Tsiakas, Konstantinos, Hempel, Maja, Aquaviva-Bourdain, Cecile, Koutsoukos, Stefanos, Stence, Nicholas V, Magistrati, Martina, Spector, Elaine B, Kronquist, Kathryn, Christensen, Mette, Karstensen, Helena G, Feichtinger, René G, Achleitner, Melanie T, Lawrence Merritt, J, Pérez, Belén, Ugarte, Magdalena, Grünewald, Stephanie, Riela, Anthony R, Julve, Natalia, Arnoux, Jean-Baptiste, Haldar, Kasturi, Donnini, Claudia, Santer, René, Lund, Allan M, Mayr, Johannes A, Rodriguez-Pombo, Pilar, Van Hove, Johan L K

المساهمون: Arribas-Carreira, Laura, Dallabona, Cristina, Swanson, Michael A, Farris, Joseph, Østergaard, Elsebet, Tsiakas, Konstantino, Hempel, Maja, Aquaviva-Bourdain, Cecile, Koutsoukos, Stefano, Stence, Nicholas V, Magistrati, Martina, Spector, Elaine B, Kronquist, Kathryn, Christensen, Mette, Karstensen, Helena G, Feichtinger, René G, Achleitner, Melanie T, Lawrence Merritt, J, Pérez, Belén, Ugarte, Magdalena, Grünewald, Stephanie, Riela, Anthony R, Julve, Natalia, Arnoux, Jean-Baptiste, Haldar, Kasturi, Donnini, Claudia, Santer, René, Lund, Allan M, Mayr, Johannes A, Rodriguez-Pombo, Pilar, Van Hove, Johan L K

مصطلحات موضوعية: Settore BIOS-14/A - Genetica, Settore MEDS-01/A - Genetica medica

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000881901900001; volume:32; issue:6; firstpage:917; lastpage:933; numberofpages:17; journal:HUMAN MOLECULAR GENETICS; https://hdl.handle.net/11381/2933560; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990993/

الاتاحة: https://hdl.handle.net/11381/2933560
https://doi.org/10.1093/hmg/ddac246
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990993/

المؤلفون: Feillet, François, Arnoux, Jean-Baptiste, Delgado, María Bueno, Burlina, Alberto, Chabrol, Brigitte, Kucuksayrac, Ece, Lagler, Florian B, Muntau, Ania C, Olsson, David, Paci, Sabrina, Rutsch, Frank, van Spronsen, Francjan J

المصدر: J Inherit Metab Dis ; ISSN:1573-2665 ; Volume:48 ; Issue:1

مصطلحات موضوعية: BH4, KAMPER, hyperphenylalaninaemia, phenylalanine hydroxylase deficiency, phenylketonuria, sapropterin dihydrochloride

Relation: https://doi.org/10.1002/jimd.12796; https://pubmed.ncbi.nlm.nih.gov/39237321; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667744/

الاتاحة: https://doi.org/10.1002/jimd.12796
https://pubmed.ncbi.nlm.nih.gov/39237321
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667744/

المؤلفون: Brachet, Maxime, Charrière, Sybil, Douillard, Claire, Feillet, François, Fouilhoux, Alain, Astudillo, Leonardo, Lavigne, Christian, Arnoux, Jean-Baptiste, Odent, Sylvie, Gay, Claire, Schiff, Manuel, Mazodier, Karin, Kuster, Alice, Rigalleau, Vincent, Thauvin-Robinet, Christel, Leguy-Seguin, Vanessa, Gissot, Valérie, Maillot, François

المصدر: Journal of Neurology; Jan2025, Vol. 272 Issue 1, p1-11, 11p

المؤلفون: Lefèvre, Charles, Labarthe, François, Dufour, Diane, Moreau, Caroline, Faoucher, Marie, Rollier, Paul, Arnoux, Jean-Baptiste, Tardieu, Marine, Damaj, Léna, Bendavid, Claude, Dessein, Anne-Frédérique, Acquaviva-Bourdain, Cécile, Cheillan, David

المساهمون: Niche, Nutrition, Cancer et métabolisme oxydatif (N2Cox), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Imaging, Brain & Neuropsychiatry (iBraiN), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), École des Hautes Études en Santé Publique EHESP (EHESP), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), Centre de référence Maladies Rares CLAD-Ouest Rennes, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Hospices Civils de Lyon (HCL), Groupement Hospitalier Lyon-Est (GHE), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Research and Innovation Department of Rennes University Hospital Centre

المصدر: ISSN: 2409-515X ; International Journal of Neonatal Screening ; https://hal.science/hal-04165959 ; International Journal of Neonatal Screening, 2023, 9 (1), pp.6. ⟨10.3390/ijns9010006⟩.

مصطلحات موضوعية: CDSP, CTD, CUD, NBS, PCD, newborn screening, primary carnitine deficiency, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/36810318; PUBMED: 36810318

الاتاحة: https://hal.science/hal-04165959
https://hal.science/hal-04165959v1/document
https://hal.science/hal-04165959v1/file/IJNS-09-00006.pdf
https://doi.org/10.3390/ijns9010006

المؤلفون: Tuchmann‐Durand, Caroline, Roda, Célina, Renard, Perrine, Mortamet, Guillaume, Bérat, Claire‐Marine, Altenburger, Lucile, de Larauz, Marie Hug, Thevenet, Eloise, Cottart, Charles‐Henry, Moulin, Florence, Bouchereau, Juliette, Brassier, Anais, Arnoux, Jean‐Baptiste, Schiff, Manuel, Bednarek, Nathalie, Lamireau, Delphine, Garros, Alexa, Mention, Karine, Cano, Aline, Finger, Lionel, Pelosi, Michele, Brochet, Cécile Sergent, Caccavelli, Laure, Raphalen, Jean‐Herlé, Renolleau, Sylvain, Oualha, Mehdi, de Lonlay, Pascale

المساهمون: Agence Nationale de la Recherche, French Muscular Dystrophy Association, Fondation Maladies Rares

المصدر: Journal of Inherited Metabolic Disease ; volume 46, issue 4, page 649-661 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12592
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12592
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12592

المؤلفون: Pontoizeau, Clément, Gaborit, Clovis, Tual, Nolan, Simon‐Sola, Marcelo, Rotaru, Irina, Benoist, Marion, Colella, Pasqualina, Lamazière, Antonin, Brassier, Anaïs, Arnoux, Jean‐Baptiste, Rötig, Agnès, Ottolenghi, Chris, de Lonlay, Pascale, Mingozzi, Federico, Cavazzana, Marina, Schiff, Manuel

المصدر: Journal of Inherited Metabolic Disease ; volume 47, issue 1, page 41-49 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12604
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12604
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12604

المؤلفون: Imbard, Apolline, Bouchereau, Juliette, Arnoux, Jean-Baptiste, Brassier, Anaïs, Schiff, Manuel, Bérat, Claire-Marine, Pontoizeau, Clément, Benoist, Jean-François, Josse, Constant, Montestruc, François, de Lonlay, Pascale

المساهمون: Biocodex

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-023-02800-8
https://link.springer.com/content/pdf/10.1186/s13023-023-02800-8.pdf
https://link.springer.com/article/10.1186/s13023-023-02800-8/fulltext.html

المؤلفون: De Leon, Diva D., Arnoux, Jean Baptiste, Banerjee, Indraneel, Bergada, Ignacio, Bhatti, Tricia, Conwell, Louise S., Fu, Junfen, Flanagan, Sarah E., Gillis, David, Meissner, Thomas, Mohnike, Klaus, Pasquini, Tai L.S., Shah, Pratik, Stanley, Charles A., Vella, Adrian, Yorifuji, Tohru, Thornton, Paul S.

المصدر: Hormone Research in Paediatrics ; volume 97, issue 3, page 279-298 ; ISSN 1663-2818 1663-2826

الاتاحة: https://doi.org/10.1159/000531766
https://karger.com/hrp/article-pdf/97/3/279/4235256/000531766.pdf

المؤلفون: Charrière, Sybil, Maillot, Francois, Bouée, Stéphane, Douillard, Claire, Jacob, Christian, Schneider, Kim Maren, Theil, Julia, Arnoux, Jean-Baptiste

المصدر: Molecular Genetics and Metabolism ; volume 139, issue 3, page 107625 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.107625
https://api.elsevier.com/content/article/PII:S109671922300255X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109671922300255X?httpAccept=text/plain

المؤلفون: Ouattara, Abdoulaye, Resseguier, Noemie, Cano, Aline, De Lonlay, Pascale, Arnoux, Jean-Baptiste, Brassier, Anais, Schiff, Manuel, Pichard, Samia, Fabre, Alexandre, Hoebeke, Celia, Guffon, Nathalie, Fouilhoux, Alain, Broué, Pierre, Touati, Guy, Dobbelaere, Dries, Mention, Karine, Labarthe, Francois, Tardieu, Marine, De Parscau, Loïc, Feillet, Francois, Bonnemains, Chrystèle, Kuster, Alice, Labrune, Philippe, Barth, Magalie, Damaj, Lena, Lamireau, Delphine, Berbis, Julie, Auquier, Pascal, Chabrol, Brigitte

المساهمون: Ministère des Affaires Sociales et de la Santé

المصدر: The Journal of Pediatrics ; volume 254, page 39-47.e4 ; ISSN 0022-3476

الاتاحة: http://dx.doi.org/10.1016/j.jpeds.2022.08.060
https://api.elsevier.com/content/article/PII:S0022347622008952?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022347622008952?httpAccept=text/plain

المؤلفون: Renson, Louis, Arnoux, Jean-Baptiste, Boucebci, Karim-John

المصدر: Anesthésie & Réanimation ; volume 9, issue 2, page 201-204 ; ISSN 2352-5800

الاتاحة: http://dx.doi.org/10.1016/j.anrea.2022.11.003
https://api.elsevier.com/content/article/PII:S2352580023000035?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352580023000035?httpAccept=text/plain

المؤلفون: Jones, Simon A, Rojas-Caro, Sandra, Quinn, Anthony G, Friedman, Mark, Marulkar, Sachin, Ezgu, Fatih, Zaki, Osama, Gargus, J Jay, Hughes, Joanne, Plantaz, Dominique, Vara, Roshni, Eckert, Stephen, Arnoux, Jean-Baptiste, Brassier, Anais, Le Quan Sang, Kim-Hanh, Valayannopoulos, Vassili

المصدر: Orphanet Journal of Rare Diseases. 12(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Trials and Supportive Activities, Pediatric, Liver Disease, Digestive Diseases, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Good Health and Well Being, Female, Humans, Infant, Male, Sterol Esterase, Survival Analysis, Wolman Disease, Lysosomal acid lipase deficiency, Wolman disease, Sebelipase alfa, Survival, Hemophagocytic lymphohistiocytosis, Other Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4sp044z6

المؤلفون: Braconi, Daniela, Geminiani, Michela, Psarelli, Eftychia Eirini, Giustarini, Daniela, Marzocchi, Barbara, Rossi, Ranieri, Bernardini, Giulia, Spiga, Ottavia, Gallagher, James A., Le Quan Sang, Kim-Hanh, Arnoux, Jean-Baptiste, Imrich, Richard, Al-Sbou, Mohammed S., Gornall, Matthew, Jackson, Richard, Ranganath, Lakshminarayan R., Santucci, Annalisa

المساهمون: Braconi, Daniela, Geminiani, Michela, Psarelli, Eftychia Eirini, Giustarini, Daniela, Marzocchi, Barbara, Rossi, Ranieri, Bernardini, Giulia, Spiga, Ottavia, Gallagher, James A., Le Quan Sang, Kim-Hanh, Arnoux, Jean-Baptiste, Imrich, Richard, Al-Sbou, Mohammed S., Gornall, Matthew, Jackson, Richard, Ranganath, Lakshminarayan R., Santucci, Annalisa

مصطلحات موضوعية: amyloidosi, biomarker, disease severity, inborn errors of metabolism, inflammation, oxidative stre, protein carbonyl, rare disease, serum amyloid A (SAA)

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/36429096; info:eu-repo/semantics/altIdentifier/wos/WOS:000887118200001; volume:11; issue:22; firstpage:1; lastpage:14; numberofpages:14; journal:CELLS; https://hdl.handle.net/11365/1220595; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142423851; https://www.mdpi.com/2073-4409/11/22/3668

الاتاحة: https://hdl.handle.net/11365/1220595
https://doi.org/10.3390/cells11223668
https://www.mdpi.com/2073-4409/11/22/3668

المؤلفون: Olofsson, Sara, Löfvendahl, Sofia, Widén, Julia, Jacobson, Lena, Lindgren, Peter, Stepien, Karolina M., Arnoux, Jean‐Baptiste, Luz Couce Pico, Maria, Leão Teles, Elisa, Rudebeck, Mattias

المصدر: Journal of Inherited Metabolic Disease Reports; Nov2024, Vol. 65 Issue 6, p450-460, 11p