Maladie de Wilson : les 10 essentiels pour optimiser la prise en charge des patients en pédiatrie

Autor: Habes, D., Lachaux, A. ^*, Guillaud, O., Ory-Magne, F., Oussedik-Djebrani, N., Poujois, A., Sobesky, R., Vanlemmens, C., Woimant, F.

Publikováno v: In Perfectionnement en Pédiatrie September 2020 3(3):229-235

Hepatic hydrothorax in a child and its management

Autor: Morin, L. ^*, Branchereau, S., Habes, D., Franchi-Abella, S., Gonzales, E.

Publikováno v: In Archives de pédiatrie July 2021 28(5):429-431

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.

Autor: Gonzales E; Pediatric Hepatology and Liver Transplantation, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, France.; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France., Gardin A; Pediatric Hepatology and Liver Transplantation, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, France.; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France., Almes M; Pediatric Hepatology and Liver Transplantation, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, France.; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France., Darmellah-Remil A; Pediatric Hepatology and Liver Transplantation, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, France., Seguin H; Pediatric Hepatology and Liver Transplantation, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, France., Mussini C; Pathology, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France., Franchi-Abella S; Pediatric Radiology, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France., Duché M; Pediatric Hepatology and Liver Transplantation, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, France.; Pediatric Radiology, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France., Ackermann O; Pediatric Hepatology and Liver Transplantation, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, France.; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France., Thébaut A; Pediatric Hepatology and Liver Transplantation, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, France.; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France., Habes D; Pediatric Hepatology and Liver Transplantation, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, France.; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France., Hermeziu B; Pediatric Hepatology and Liver Transplantation, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, France.; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France., Lapalus M; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France., Falguières T; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France., Combal JP; Vivet Therapeutics, Paris, France., Benichou B; Vivet Therapeutics, Paris, France., Valero S; Vivet Therapeutics, Paris, France., Davit-Spraul A; Biochemistry; Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France., Jacquemin E; Pediatric Hepatology and Liver Transplantation, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, France.; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France.

Publikováno v: JHEP reports : innovation in hepatology [JHEP Rep] 2023 Jul 13; Vol. 5 (10), pp. 100844. Date of Electronic Publication: 2023 Jul 13 (Print Publication: 2023).

A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.

Autor: Gardin A; Pediatric Hepatology and Liver Transplant Department, Centre de Référence de l'Atrésie des Voies Biliaires et des Cholestases Génétiques, European Reference Network RARE-LIVER, Filière de Santé des Maladies Rares du Foie de l'Enfant et de l'Adulte, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris-Saclay, CHU Bicêtre, Le Kremlin-Bicêtre, France. Electronic address: antoine.gardin@gmail.com., Mussini C; Department of Pathology, Bicêtre Hospital, Le Kremlin-Bicêtre, France., Héron B; Department of Pediatric Neurology, Reference Center for Lysosomal Diseases, Armand Trousseau-La Roche Guyon Hospital, Assistance Publique-Hôpitaux de Paris, Fédération Hospitalo-Universitaire I2-D2, Sorbonne-Université, Paris, France., Schiff M; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Filière G2M, Paris, France; Inserm UMR S1163, Institut Imagine, Université Paris Cité, Paris, France., Brassier A; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Filière G2M, Paris, France., Dobbelaere D; Medical Reference Center for Inherited Metabolic Diseases, Jeanne de Flandre University Children's Hospital and Research Team for Rare Metabolic and Developmental Diseases (RADEME), EA 7364 CHRU Lille, Lille, France; MetabERN., Broué P; Department of Pediatric Hepatology, Reference Center for Inborn Error of Metabolism, Toulouse Children Hospital, Toulouse, France., Sevin C; Department of Pediatric Neurology, Bicêtre Hospital, Le Kremlin-Bicêtre, France., Vanier MT; Inserm U820, Laboratoire Gillet-Mérieux, Hospices Civils de Lyon, Lyon, France., Habes D; Pediatric Hepatology and Liver Transplant Department, Centre de Référence de l'Atrésie des Voies Biliaires et des Cholestases Génétiques, European Reference Network RARE-LIVER, Filière de Santé des Maladies Rares du Foie de l'Enfant et de l'Adulte, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris-Saclay, CHU Bicêtre, Le Kremlin-Bicêtre, France., Jacquemin E; Pediatric Hepatology and Liver Transplant Department, Centre de Référence de l'Atrésie des Voies Biliaires et des Cholestases Génétiques, European Reference Network RARE-LIVER, Filière de Santé des Maladies Rares du Foie de l'Enfant et de l'Adulte, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris-Saclay, CHU Bicêtre, Le Kremlin-Bicêtre, France; Inserm UMR S1193, Université Paris-Saclay, Hépatinov, Orsay, France., Gonzales E; Pediatric Hepatology and Liver Transplant Department, Centre de Référence de l'Atrésie des Voies Biliaires et des Cholestases Génétiques, European Reference Network RARE-LIVER, Filière de Santé des Maladies Rares du Foie de l'Enfant et de l'Adulte, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris-Saclay, CHU Bicêtre, Le Kremlin-Bicêtre, France; Inserm UMR S1193, Université Paris-Saclay, Hépatinov, Orsay, France.

Publikováno v: The Journal of pediatrics [J Pediatr] 2023 Mar; Vol. 254, pp. 75-82.e4. Date of Electronic Publication: 2022 Oct 17.

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.

Autor: Hajji H; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France., Imbard A; Metabolic Biochemistry Laboratory, Necker-Enfants Malades Hospital, APHP, Paris, France.; LYPSIS, Pharmacy University, Paris-Saclay University, Chatenay-Malabry,France., Spraul A; Biochemistry Laboratory, Bicêtre Hosiptal, APHP, Le Kremlin-Bicêtre, France., Taibi L; Biochemistry Laboratory, Robert Debré Hospital, APHP, Paris, France., Barbier V; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France., Habes D; Pediatric Hepatology, Bicêtre Hospital, APHP, Le Kremlin-Bicêtre, France., Brassier A; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France., Arnoux JB; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France., Bouchereau J; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France., Pichard S; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France., Sissaoui S; Pediatric Gastroenterology-Nutrition and Hepatology, Necker-Enfants Malades Hospital, APHP, Paris, France., Lacaille F; Pediatric Gastroenterology-Nutrition and Hepatology, Necker-Enfants Malades Hospital, APHP, Paris, France., Girard M; Pediatric Gastroenterology-Nutrition and Hepatology, Necker-Enfants Malades Hospital, APHP, Paris, France., Debray D; Pediatric Gastroenterology-Nutrition and Hepatology, Necker-Enfants Malades Hospital, APHP, Paris, France., de Lonlay P; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France.; Inserm UMR 1151, Institut Necker-Enfants Malades, Université Paris Cité, Paris, France., Schiff M; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France.; Inserm UMR_S1163, Institut Imagine, Université Paris Cité, Paris, France.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Nov 08; Vol. 33, pp. 100933. Date of Electronic Publication: 2022 Nov 08 (Print Publication: 2022).