المؤلفون: Coz, Étienne, Vilquin, Alexandre, Martin, Élian, Garneret, Pierre, Raguel, Yannick, Benoist, Jean-François, Monti, Fabrice, Tabeling, Patrick

مصطلحات موضوعية: Physics - Medical Physics

URL الوصول: http://arxiv.org/abs/2303.06136

المؤلفون: Mondesert, Etienne, Baud, Bastien, Roubertie, Agathe, Benoist, Jean-François, Grillet, Pierre-Edouard, Cristol, Jean-Paul, Francois-Heude, Marie Céline, Schiff, Manuel, Badiou, Stéphanie

المصدر: Heliyon ; volume 11, issue 3, page e42086 ; ISSN 2405-8440

الاتاحة: https://doi.org/10.1016/j.heliyon.2025.e42086
https://api.elsevier.com/content/article/PII:S2405844025004669?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2405844025004669?httpAccept=text/plain

المؤلفون: Rossignol, Francis, Duarte Moreno, Marvid, Benoist, Jean-François, Boehm, Manfred, Bourrat, Emmanuelle, Cano, Aline, Chabrol, Brigitte, Cosson, Claudine, Díaz, José, DHarlingue, Arthur, Dimmock, David, Freeman, Alexandra, García, María, Garganta, Cheryl, Goerge, Tobias, Halbach, Sara, de Laffolie, Jan, Lam, Christina, Martin, Ludovic, Martins, Esmeralda, Meinhardt, Andrea, Melki, Isabelle, Ombrello, Amanda, Pérez, Noémie, Quelhas, Dulce, Scott, Anna, Slavotinek, Anne, Soares, Ana, Stein, Sarah, Süßmuth, Kira, Thies, Jenny, Ferreira, Carlos, Schiff, Manuel

المصدر: Genetics in Medicine. 23(9)

مصطلحات موضوعية: Child, Child, Preschool, Crohn Disease, Delayed Diagnosis, Humans, Leg Ulcer, Phenotype, Prolidase Deficiency

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/42973674
https://escholarship.org/content/qt42973674/qt42973674.pdf

المؤلفون: Jury, Jeanne, Benoist, Jean‐françois, Joubert, Madeleine, Quelin, Chloé, Besnard, Thomas, Conrad, Solène, Le Vaillant, Claudine, Bézieau, Stéphane, Isidor, Bertrand, Attié‐bitach, Tania, Cogné, Benjamin, Vincent, Marie

المساهمون: Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), MetaboHUB-IDF, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-MetaboHUB-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Nantes Université (Nantes Univ), Institut du Thorax Nantes, ITX-lab unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Hôtel-Dieu de Nantes, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)

المصدر: ISSN: 0009-9163.

مصطلحات موضوعية: Feta, Glutathione synthetase deficiency, GS, GSS, Multiple congenital anomalies, RNA-seq, [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04907793
https://hal.science/hal-04907793v1/document
https://hal.science/hal-04907793v1/file/Clinical%20Genetics%20-%202024%20-%20Jury%20-%20Multiple%20congenital%20anomalies%20in%20two%20fetuses%20with%20glutathione%E2%80%90synthetase%20deficit%20GSS.pdf
https://doi.org/10.1111/cge.14613

المؤلفون: Imbard, Apolline, de Calbiac, Hortense, Le Guillou, Edouard, Laforêt, Pascal, Schiff, Manuel, Brassier, Anaïs, Thevenet, Elise, Pontoizeau, Clément, Lefrère, Bertrand, Ottolenghi, Chris, Lebigot, Elise, Gaignard, Pauline, Gobin, Stéphanie, Acquaviva‐Bourdain, Cécile, Benoist, Jean‐François, Tuchmann‐Durand, Caroline, Legendre, Antoine, de Lonlay, Pascale

المساهمون: Ultragenyx Pharmaceutical, French Muscular Dystrophy Association, Agence Nationale de la Recherche

المصدر: Journal of Inherited Metabolic Disease ; volume 48, issue 1 ; ISSN 0141-8955 1573-2665

الاتاحة: https://doi.org/10.1002/jimd.12819
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12819

المؤلفون: Nguyen, Alexandre, Deshayes, Samuel, Nowoczyn, Marie, Imbard, Apolline, Mansour‐Hendili, Lamisse, Cesbron, Alexandre, Benoist, Jean François, Schiff, Manuel

المصدر: JIMD Reports ; volume 65, issue 3, page 163-170 ; ISSN 2192-8312 2192-8312

الاتاحة: http://dx.doi.org/10.1002/jmd2.12422
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12422

المؤلفون: Labouret, Mathilde, Trebossen, Vincent, Ntorkou, Alexandra, Bartoli, Sophie, Aubart, Mélodie, Auvin, Stéphane, Bader-Meunier, Brigitte, Baudouin, Véronique, Corseri, Olivier, Dingulu, Glory, Ducrocq, Camille, Dumaine, Cécile, Elmaleh, Monique, Fabien, Nicole, Faye, Albert, Hau, Isabelle, Hentgen, Véronique, Kwon, Théresa, Meinzer, Ulrich, Ouldali, Naim, Parmentier, Cyrielle, Pouletty, Marie, Renaldo, Florence, Savioz, Isabelle, Benoist, Jean-François, Le Roux, Enora, Ellul, Pierre, Melki, Isabelle

المصدر: Lupus ; volume 33, issue 4, page 328-339 ; ISSN 0961-2033 1477-0962

الاتاحة: https://doi.org/10.1177/09612033241229022
https://journals.sagepub.com/doi/pdf/10.1177/09612033241229022
https://journals.sagepub.com/doi/full-xml/10.1177/09612033241229022

المؤلفون: Prot-Bertoye, Caroline, Jung, Vincent, Tostivint, Isabelle, Roger, Kevin, Benoist, Jean-François, Jannot, Anne-Sophie, Van Straaten, Alexis, Knebelmann, Bertrand, Guerrera, Ida Chiara, Courbebaisse, Marie

المصدر: Clinical Kidney Journal ; volume 17, issue 3 ; ISSN 2048-8505 2048-8513

مصطلحات موضوعية: Transplantation, Nephrology

الاتاحة: http://dx.doi.org/10.1093/ckj/sfae040
https://academic.oup.com/ckj/advance-article-pdf/doi/10.1093/ckj/sfae040/56745801/sfae040.pdf
https://academic.oup.com/ckj/article-pdf/17/3/sfae040/57029183/sfae040.pdf

المؤلفون: Labouret, Mathilde, Costi, Stefania, Bondet, Vincent, Trebossen, Vincent, Le Roux, Enora, Ntorkou, Alexandra, Bartoli, Sophie, Auvin, Stéphane, Bader-Meunier, Brigitte, Baudouin, Véronique, Corseri, Olivier, Dingulu, Glory, Ducrocq, Camille, Dumaine, Cécile, Elmaleh, Monique, Fabien, Nicole, Faye, Albert, Hau, Isabelle, Hentgen, Véronique, Kwon, Théresa, Meinzer, Ulrich, Ouldali, Naim, Parmentier, Cyrielle, Pouletty, Marie, Renaldo, Florence, Savioz, Isabelle, Rozenberg, Flore, Frémond, Marie-Louise, Lepelley, Alice, Rice, Gillian I, Seabra, Luis, Benoist, Jean-François, Duffy, Darragh, Crow, Yanick J, Ellul, Pierre, Melki, Isabelle

المصدر: Labouret , M , Costi , S , Bondet , V , Trebossen , V , Le Roux , E , Ntorkou , A , Bartoli , S , Auvin , S , Bader-Meunier , B , Baudouin , V , Corseri , O , Dingulu , G , Ducrocq , C , Dumaine , C , Elmaleh , M , Fabien , N , Faye , A , Hau , I , Hentgen , V , Kwon , T , Meinzer , U , Ouldali , N , Parmentier , C , Pouletty , M , Renaldo , ....

مصطلحات موضوعية: Humans, Child, Lupus Vasculitis, Central Nervous System, Retrospective Studies, Neopterin, Neuroinflammatory Diseases, Lupus Erythematosus, Systemic/diagnosis, Biomarkers

Relation: https://research.manchester.ac.uk/en/publications/73aac1a7-7072-4dcb-b05e-4aaa8dbe8e8d

الاتاحة: https://research.manchester.ac.uk/en/publications/73aac1a7-7072-4dcb-b05e-4aaa8dbe8e8d
https://doi.org/10.1007/s10875-022-01407-1

المؤلفون: Fuchs, Florent, Rodriguez, Alexis, Mousty, Eve, Morin, Denis, Roubertie, Agathe, Wells, Constance F., Prodhomme, Olivier, Benoist, Jean‐François, Dreux, Sophie, Faure, Jean‐Michel, Willems, Marjolaine

المصدر: Prenatal Diagnosis ; volume 44, issue 1, page 28-34 ; ISSN 0197-3851 1097-0223

الاتاحة: http://dx.doi.org/10.1002/pd.6475
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6475

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: Rafat, Cédric, Doreille, Alice, Dancer, Marine, Werion, Alexis, Benoist, Jean-François, Raymond, Laure, Mesnard, Laurent

المصدر: Clinical Kidney Journal ; volume 16, issue 11, page 2299-2301 ; ISSN 2048-8505 2048-8513

الاتاحة: https://doi.org/10.1093/ckj/sfad094
https://academic.oup.com/ckj/advance-article-pdf/doi/10.1093/ckj/sfad094/50853203/sfad094.pdf
https://academic.oup.com/ckj/article-pdf/16/11/2299/52691846/sfad094.pdf

المؤلفون: Germain, Nicolas, Vaudran, Lucie, Guemann, Anne-Sophie, Benoist, Jean-François, Dessein, Anne-Frédérique

المصدر: Clinical Chemistry ; volume 69, issue 10, page 1200-1203 ; ISSN 0009-9147 1530-8561

الاتاحة: https://doi.org/10.1093/clinchem/hvad114
https://academic.oup.com/clinchem/article-pdf/69/10/1200/51823412/hvad114.pdf

المؤلفون: Ravel, Jean-Marie, Michaud, Maud, Frismand, Solène, Puisieux, Salomé, Banneau, Guillaume, Benoist, Jean-François, Lambert, Laëtitia, Bonnet, Céline, Renaud, Mathilde

المصدر: Parkinsonism & Related Disorders ; volume 109, page 105310 ; ISSN 1353-8020

الاتاحة: http://dx.doi.org/10.1016/j.parkreldis.2023.105310
https://api.elsevier.com/content/article/PII:S1353802023000330?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1353802023000330?httpAccept=text/plain

المؤلفون: Dobritzsch, Doreen, Meijer, Judith, Meinsma, Rutger, Maurer, Dirk, Monavari, Ardeshir A., Gummesson, Anders, Reims, Annika, Cayuela, Jorge A., Kuklina, Natalia, Benoist, Jean-Francois, Perrin, Laurence, Assmann, Birgit, Hoffmann, Georg F., Bierau, Jörgen, Kaindl, Angela M., Kuilenburg, Andre B. P. van

مصطلحات موضوعية: beta-Ureidopropionase, UPB1, Neurological abnormalities, Crystal structure, Minigene approach, Functional and structural protein analysis, Medical Genetics, Medicinsk genetik

وصف الملف: application/pdf

Relation: Molecular Genetics and Metabolism, 1096-7192, 2022, 136:3, s. 177-185; PMID 35151535; ISI:000816004700003

الاتاحة: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-481270
https://doi.org/10.1016/j.ymgme.2022.01.102

المؤلفون: Yverneau, Mathilde, Leroux, Stephanie, Imbard, Apolline, Gleich, Florian, Arion, Alina, Moreau, Caroline, Nassogne, Marie-Cecile, Szymanowski, Marie, Tardieu, Marine, Touati, Guy, Bueno, Maria, Chapman, Kimberly A., Chien, Yin-Hsiu, Huemer, Martina, Jesina, Pavel, Janssen, Mirian C. H., Koelker, Stefan, Kozich, Viktor, Lavigne, Christian, Lund, Allan Meldgaard, Mochel, Fanny, Morris, Andrew, Pons, Monica Ruiz, Liliana Porras-Hurtado, Gloria, Benoist, Jean-Francois, Damaj, Lena, Schiff, Manuel

المساهمون: Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Heidelberg University Hospital Heidelberg, Service de Pédiatrie Médicale Caen, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Université Catholique de Louvain = Catholic University of Louvain (UCL), CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand, CHU Trousseau Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hospital Universitario Virgen del Rocío Sevilla, Children’s National Health System Washington, DC, USA, National Taiwan University Taiwan (NTU), University Children’s Hospital Zurich, Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK), Radboud University Medical Center Nijmegen, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Copenhagen University Hospital, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Manchester University NHS Foundation Trust (MFT), Hospital Universitario N.S. de Candelaria Santa Cruz de Tenerife, Spain, Hôpital Robert Debré Paris, Hôpital Robert Debré, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), European Union 739543, EU-project phase 2012 12 02, SOBI, Recordati Rare Disease Foundation, Aeglea

المصدر: ISSN: 0141-8955.

مصطلحات موضوعية: homocystinuria, MTHFR deficiency, neurodevelopmental outcome, newborn screening, remethylation defects, EHOD, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/35460084; hal-03711581; https://hal.science/hal-03711581; https://hal.science/hal-03711581/document; https://hal.science/hal-03711581/file/Yverneau%20et%20al.%20-%202022%20-%20Influence%20of%20early%20identification%20and%20therapy%20on%20l.pdf; PUBMED: 35460084

الاتاحة: https://hal.science/hal-03711581
https://hal.science/hal-03711581/document
https://hal.science/hal-03711581/file/Yverneau%20et%20al.%20-%202022%20-%20Influence%20of%20early%20identification%20and%20therapy%20on%20l.pdf
https://doi.org/10.1002/jimd.12504

المؤلفون: Imbard, Apolline, Toumazi, Artemis, Magréault, Sophie, Garcia-Segarra, Nuria, Schlemmer, Dimitri, Kaguelidou, Florentia, Perronneau, Isabelle, Haignere, Jérémie, de Baulny, Hélène Ogier, Kuster, Alice, Feillet, François, Alberti, Corinne, Guilmin-Crépon, Sophie, Benoist, Jean-François, Schiff, Manuel

المساهمون: Laboratoire de Microbiologie Clinique AP-HP Hôpital Necker-Enfants Malades, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Physiopathologie des Adaptations Nutritionnelles (PhAN), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)

المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.inrae.fr/hal-03978689 ; Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.417. ⟨10.1186/s13023-022-02567-4⟩.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: hal-03978689; https://hal.inrae.fr/hal-03978689; https://hal.inrae.fr/hal-03978689/document; https://hal.inrae.fr/hal-03978689/file/Imbard%20Orphanet%20Journal%20of%20rare%20diseases%202022.pdf

الاتاحة: https://hal.inrae.fr/hal-03978689
https://hal.inrae.fr/hal-03978689/document
https://hal.inrae.fr/hal-03978689/file/Imbard%20Orphanet%20Journal%20of%20rare%20diseases%202022.pdf
https://doi.org/10.1186/s13023-022-02567-4

المؤلفون: Oussalah, Abderrahim, Siblini, Youssef, Hergalant, Sébastien, Chéry, Céline, Rouyer, Pierre, Cavicchi, Catia, Guerrini, Renzo, Morange, Pierre-Emmanuel, Trégouët, David, Pupavac, Mihaela, Watkins, David, Pastinen, Tomi, Chung, Wendy, Ficicioglu, Can, Feillet, François, Froese, D. Sean, Baumgartner, Matthias, Benoist, Jean-François, Majewski, Jacek, Morrone, Amelia, Rosenblatt, David, Guéant, Jean-Louis

المساهمون: Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Biochimie – Biologie moléculaire et Nutrition CHRU Nancy, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Azienda Ospedaliero Universitaria Meyer Firenze = Meyer Children's University Hospital Florence (AOU Meyer), Università degli Studi di Firenze = University of Florence = Université de Florence (UniFI), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), McGill University = Université McGill Montréal, Canada, Columbia University Medical Center (CUMC), Columbia University New York, Perelman School of Medicine, University of Pennsylvania, Children’s Hospital of Philadelphia (CHOP ), University Children’s Hospital Zurich, Universität Zürich Zürich = University of Zurich (UZH), Hôpital Robert Debré, McGill University Health Center Montreal (MUHC), Service d'Hépato-gastro-entérologie CHRU Nancy, ANR-15-IDEX-0004,LUE,Isite LUE(2015)

المصدر: ISSN: 1868-7083 ; Clinical Epigenetics ; https://hal.univ-lorraine.fr/hal-03664165 ; Clinical Epigenetics, 2022, 14 (1), pp.52. ⟨10.1186/s13148-022-01271-1⟩.

مصطلحات موضوعية: Epi-cblC, MMACHC, Methylmalonic aciduria and homocystinuria, cblC type, Promoter hypermethylation, Secondary epimutation, TESK2, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], [MATH.MATH-PR]Mathematics [math]/Probability [math.PR], [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BBM.MN]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular Networks [q-bio.MN], [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM]

Relation: info:eu-repo/semantics/altIdentifier/pmid/35440018; hal-03664165; https://hal.univ-lorraine.fr/hal-03664165; https://hal.univ-lorraine.fr/hal-03664165/document; https://hal.univ-lorraine.fr/hal-03664165/file/13148_2022_Article_1271.pdf; PUBMED: 35440018; PUBMEDCENTRAL: PMC9020039

الاتاحة: https://hal.univ-lorraine.fr/hal-03664165
https://hal.univ-lorraine.fr/hal-03664165/document
https://hal.univ-lorraine.fr/hal-03664165/file/13148_2022_Article_1271.pdf
https://doi.org/10.1186/s13148-022-01271-1

المؤلفون: Fernández-Eulate, Gorka, Carreau, Christophe, Benoist, Jean-François, Lamari, Foudil, Rucheton, Benoit, Shor, Natalia, Nadjar, Yann

المساهمون: CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hopital Saint-Louis AP-HP (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de biochimie métabolique CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP

المصدر: ISSN: 0022-3050.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: hal-03571929; https://hal.sorbonne-universite.fr/hal-03571929; https://hal.sorbonne-universite.fr/hal-03571929/document; https://hal.sorbonne-universite.fr/hal-03571929/file/jnnp-2021-328045.full%281%29.pdf

الاتاحة: https://hal.sorbonne-universite.fr/hal-03571929
https://hal.sorbonne-universite.fr/hal-03571929/document
https://hal.sorbonne-universite.fr/hal-03571929/file/jnnp-2021-328045.full%281%29.pdf
https://doi.org/10.1136/jnnp-2021-328045

المؤلفون: Marelli, Cecilia, Fouilhoux, Alain, Benoist, Jean‐Francois, De Lonlay, Pascale, Guffon‐Fouilhoux, Nathalie, Brassier, Anais, Cano, Aline, Chabrol, Brigitte, Pennisi, Alessandra, Schiff, Manuel, Acquaviva, Cecile, Murphy, Elaine, Servais, Aude, Lachmann, Robin

المصدر: Journal of Inherited Metabolic Disease ; volume 45, issue 5, page 937-951 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12525
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12525
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12525