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Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
Published in:
Human Genetics, 2022, v. 141, n. 7, p. 1239, doi. 10.1007/s00439-021-02350-8
By:
- Matmat, Karim;
- Guéant-Rodriguez, Rosa-Maria;
- Oussalah, Abderrahim;
- Wiedemann-Fodé, Arnaud;
- Dionisi-Vici, Carlo;
- Coelho, David;
- Guéant, Jean-Louis;
- Conart, Jean-Baptiste
Publication type:
Article
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.
Published in:
Human Genetics, 2022, v. 141, n. 7, p. 1269, doi. 10.1007/s00439-021-02358-0
By:
- Mergnac, Jean-Philippe;
- Wiedemann, Arnaud;
- Chery, Céline;
- Ravel, Jean-Marie;
- Namour, Farès;
- Guéant, Jean-Louis;
- Feillet, François;
- Oussalah, Abderrahim
Publication type:
Article
Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36550-1
By:
- Theron, Maurane;
- Jeannesson, Elise;
- Canton, Marie;
- Namour, Farès;
- Oussalah, Abderrahim;
- Feillet, François;
- Wiedemann, Arnaud
Publication type:
Article
Procalcitonin is associated with sudden unexpected death in infancy due to infection.
Published in:
European Journal of Pediatrics, 2023, v. 182, n. 9, p. 3929, doi. 10.1007/s00431-023-05064-3
By:
- Collette, Maritie;
- Hauet, Mathilde;
- de Visme, Sophie;
- Borsa, Anne;
- Schweitzer, Cyril;
- Marchand, Elodie;
- Martrille, Laurent;
- Wiedemann, Arnaud
Publication type:
Article
Un long ARN non codant régule l'activité de la phénylalanine hydroxylase, l'enzyme responsable de la phénylcétonurie.
Published in:
Médecine Sciences, 2022, v. 38, n. 1, p. 12, doi. 10.1051/medsci/2021237
By:
- Wiedemann, Arnaud;
- Lin, Chunru;
- Oussalah, Abderrahim;
- Namour, Bernard;
- Jeannesson, Élise;
- Guéant, Jean-Louis;
- Feillet, François
Publication type:
Article
Le dépistage de la phénylcétonurie en France.
Published in:
Médecine Sciences, 2021, v. 37, n. 5, p. 468, doi. 10.1051/medsci/2021061
By:
- Wiedemann, Arnaud;
- Jeannesson, Élise;
- Oussalah, Abderrahim;
- Guéant, Jean-Louis;
- Guéant-Rodriguez, Rosa-Maria;
- Feillet, François
Publication type:
Article
La phénylcétonurie: De la diététique à la thérapie génique.
Published in:
Médecine Sciences, 2020, v. 36, n. 8/9, p. 725, doi. 10.1051/medsci/2020127
By:
- Wiedemann, Arnaud;
- Oussalah, Abderrahim;
- Jeannesson, Élise;
- Guéant, Jean-Louis;
- François, Feillet
Publication type:
Article
Menstrual Toxic Shock Syndrome: A French Nationwide Multicenter Retrospective Study.
Published in:
Clinical Infectious Diseases, 2022, v. 74, n. 2, p. 246, doi. 10.1093/cid/ciab378
By:
- Contou, Damien;
- Colin, Gwenhaël;
- Travert, Brendan;
- Jochmans, Sébastien;
- Conrad, Marie;
- Lascarrou, Jean-Baptiste;
- Painvin, Benoit;
- Ferré, Alexis;
- Schnell, David;
- Combe, Beatrice La;
- Coudroy, Rémi;
- Ehrmann, Stephan;
- Rambaud, Jérôme;
- Wiedemann, Arnaud;
- Asfar, Pierre;
- Kalfon, Pierre;
- Guérot, Emmanuel;
- Préau, Sébastien;
- Argaud, Laurent;
- Daviet, Florence
Publication type:
Article
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 415, doi. 10.1002/jimd.12314
By:
- Bérat, Claire‐Marine;
- Montealegre, Sebastian;
- Wiedemann, Arnaud;
- Nuzum, Malou Le Corronc;
- Blondel, Amélie;
- Debruge, Hugo;
- Cano, Aline;
- Chabrol, Brigitte;
- Hoebeke, Célia;
- Polak, Michel;
- Stoupa, Athanasia;
- Feillet, François;
- Torre, Stéphanie;
- Boddaert, Nathalie;
- Bruel, Henri;
- Barth, Magalie;
- Damaj, Lena;
- Abi‐Wardé, Marie‐Thérèse;
- Afenjar, Alexandra;
- Benoist, Jean‐François
Publication type:
Article
Hyperosmolarity in children with hyperammonemia: a risk of brain herniation at the start of renal replacement therapy.
Published in:
Frontiers in Pediatrics, 2024, p. 01, doi. 10.3389/fped.2024.1431008
By:
- Maghmoul, Yousra;
- Wiedemann, Arnaud;
- Barcat, Lucile;
- Parente, Fabienne;
- Allard, Pierre;
- Alvarez, Fernando;
- Jouvet, Philippe
Publication type:
Article
Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children.
Published in:
2021
By:
- Ouldali, Naïm;
- Toubiana, Julie;
- Antona, Denise;
- Javouhey, Etienne;
- Madhi, Fouad;
- Lorrot, Mathie;
- Léger, Pierre-Louis;
- Galeotti, Caroline;
- Claude, Caroline;
- Wiedemann, Arnaud;
- Lachaume, Noémie;
- Ovaert, Caroline;
- Dumortier, Morgane;
- Kahn, Jean-Emmanuel;
- Mandelcwajg, Alexis;
- Percheron, Lucas;
- Biot, Blandine;
- Bordet, Jeanne;
- Girardin, Marie-Laure;
- Yang, David Dawei
Publication type:
journal article
A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. 1576, doi. 10.1002/humu.24285
By:
- Ravel, Jean‐Marie;
- Dreumont, Natacha;
- Mosca, Pauline;
- Smith, Desiree E. C.;
- Mendes, Marisa I.;
- Wiedemann, Arnaud;
- Coelho, David;
- Schmitt, Emmanuelle;
- Rivière, Jean‐Baptiste;
- Tran Mau‐Them, Frédéric;
- Thevenon, Julien;
- Kuentz, Paul;
- Polivka, Marc;
- Fuchs, Sabine A.;
- Kok, Gautam;
- Thauvin‐Robinet, Christel;
- Guéant, Jean‐Louis;
- Salomons, Gajja S.;
- Faivre, Laurence;
- Feillet, François
Publication type:
Article
Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications.
Published in:
Human Mutation, 2021, v. 42, n. 2, p. 142, doi. 10.1002/humu.24151
By:
- Castiglioni, Claudia;
- Feillet, François;
- Barnerias, Christine;
- Wiedemann, Arnaud;
- Muchart, Jordi;
- Cortes, Fanny;
- Hernando‐Davalillo, Cristina;
- Montero, Raquel;
- Dupré, Thierry;
- Bruneel, Arnaud;
- Seta, Nathalie;
- Vuillaumier‐Barrot, Sandrine;
- Serrano, Mercedes
Publication type:
Article
Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1).
Published in:
Calcified Tissue International, 2020, v. 107, n. 2, p. 191, doi. 10.1007/s00223-020-00704-4
By:
- Wiedemann, Arnaud;
- Renard, Emeline;
- Molin, Arnaud;
- Weryha, Georges;
- Oussalah, Abderrahim;
- Guéant, Jean-Louis;
- Feillet, François
Publication type:
Article
Annual Injection of Zoledronic Acid Improves Bone Status in Children with Cerebral Palsy and Rett Syndrome.
Published in:
2019
By:
- Wiedemann, Arnaud;
- Renard, Emeline;
- Hernandez, Magali;
- Dousset, Brigitte;
- Brezin, François;
- Lambert, Laetitia;
- Weryha, Georges;
- Feillet, François
Publication type:
journal article
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
Published in:
Journal of Bone & Mineral Research, 2017, v. 32, n. 9, p. 1893, doi. 10.1002/jbmr.3181
By:
- Abeguile, Geneviève;
- Coudray, Nadia;
- Kottler, Marie-Laure;
- Molin, Arnaud;
- Mittre, Hervé;
- Richard, Nicolas;
- Sorlin, Arthur;
- Wiedemann, Arnaud;
- Do Cao, Jérémy;
- Feillet, Francois;
- Journeau, Pierre;
- Weryha, Georges;
- Mainard, Laurent;
- Demers, Nick;
- Kaufmann, Martin;
- Jones, Glenville;
- Dousset, Brigitte
Publication type:
Article
Pubertal outcomes of children transplanted with allogeneic stem cells after myeloablative total body irradiation or busulfan: Influence of age and sex is confirmed, while a role of chronic graft‐versus‐host disease in delayed puberty onset is revealed
Published in:
Pediatric Transplantation, 2020, v. 24, n. 6, p. 1, doi. 10.1111/petr.13773
By:
- Weinhard, Sara;
- Wiedemann, Arnaud;
- Leheup, Bruno;
- Dalle, Jean‐Hugues;
- Lebon Labich, Béatrice;
- Pochon, Cécile
Publication type:
Article

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