Zobrazeno 1 - 10
of 1 648
pro vyhledávání: '"Najjar syndrome"'
Autor:
Sambati V; Pediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy., Laudisio S; Pediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy., Motta M; Pediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy., Esposito S; Pediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Oct 13; Vol. 25 (20). Date of Electronic Publication: 2024 Oct 13.
Autor:
Wu L; Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China., Li Z; Institute of Clinical Medicine, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China., Song Y; Institute of Clinical Medicine, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China., Li Y; Institute of Clinical Medicine, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China., Zhang W; Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China., Zhong X; Gastroenterology Department, Capital Institute of Pediatrics, Capital Medical University, Beijing, 100020, China., Wang X; Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China., Huang J; Institute of Clinical Medicine, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China. Electronic address: huangj1966@hotmail.com., Ou X; Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China. Electronic address: ouxj16@126.com.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Oct; Vol. 71, pp. 104962. Date of Electronic Publication: 2024 Jul 26.
Autor:
Li X; Department of Gastroenterology, Digestive Disease Hospital, Affiliated Hospital of Zunyi Medical University, Zunyi, China., Wang D; Department of Gastroenterology, Digestive Disease Hospital, Affiliated Hospital of Zunyi Medical University, Zunyi, China., Li R; Department of Gastroenterology, Digestive Disease Hospital, Affiliated Hospital of Zunyi Medical University, Zunyi, China., Yang F; Department of Gastroenterology, Digestive Disease Hospital, Affiliated Hospital of Zunyi Medical University, Zunyi, China., Zhu R; Department of Gastroenterology, Digestive Disease Hospital, Affiliated Hospital of Zunyi Medical University, Zunyi, China. Electronic address: rongzhuzhurong@126.com.
Publikováno v:
Clinics and research in hepatology and gastroenterology [Clin Res Hepatol Gastroenterol] 2024 Aug; Vol. 48 (7), pp. 102395. Date of Electronic Publication: 2024 Jun 08.
Autor:
Di Dato F; Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, Via Sergio Pansini 5, 80131, Naples, Italy., D'Uonno G; Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, Via Sergio Pansini 5, 80131, Naples, Italy., Iorio R; Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, Via Sergio Pansini 5, 80131, Naples, Italy. riorio@unina.it.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 07; Vol. 19 (1), pp. 102. Date of Electronic Publication: 2024 Mar 07.
Autor:
El-Anwar N; Department of Paediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., El-Shabrawi M; Department of Paediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., Shahin OO; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Abdel Kareem R; Paediatrics department, Ministry of Health and Population, Cairo, Egypt., Salama AM; Paediatrics department, Ministry of Health and Population, Cairo, Egypt., Baroudy S; Department of Paediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
Publikováno v:
Paediatrics and international child health [Paediatr Int Child Health] 2024 May; Vol. 44 (1), pp. 18-23. Date of Electronic Publication: 2024 Feb 09.
Autor:
Shen Y; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Guo HM; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Zheng YC; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Zheng BX; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Yan KL; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Kong GP; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Lin Q; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Jin Y; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Liu ZF; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Li M; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
Publikováno v:
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology [Zhonghua Gan Zang Bing Za Zhi] 2024 Feb 20; Vol. 32 (2), pp. 119-124.
Autor:
Reza HA; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Center for Stem Cell and Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Farooqui Z; Division of Gastroenterology, Hepatology & Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Reza AA; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Conroy C; College of Medicine, University of Kentucky, Lexington, KY, USA., Iwasawa K; Division of Gastroenterology, Hepatology & Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Ogura Y; Department of Transplantation Surgery, Nagoya University Hospital, Nagoya University Graduate School of Medicine, Aichi, Japan., Okita K; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan., Osafune K; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan., Takebe T; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Center for Stem Cell and Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Division of Gastroenterology, Hepatology & Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Institute of Research, Tokyo Medical and Dental University, Tokyo, Japan; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Premium Research Institute for Human Metaverse Medicine (WPI-PRIMe), and Division of Stem Cell and Organoid Medicine, Osaka University, Suita, Osaka 565-0871, Japan. Electronic address: takanori.takebe@cchmc.org.
Publikováno v:
Stem cell reports [Stem Cell Reports] 2023 Nov 14; Vol. 18 (11), pp. 2071-2083. Date of Electronic Publication: 2023 Oct 12.
Autor:
Ferry N; Ancien directeur de recherche à l'Inserm, Paris, France.
Publikováno v:
Medecine sciences : M/S [Med Sci (Paris)] 2023 Nov; Vol. 39 (11), pp. 833-835. Date of Electronic Publication: 2023 Nov 29.
Autor:
Pranty AI; Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine University Düsseldorf, 40225 Düsseldorf, Germany., Wruck W; Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine University Düsseldorf, 40225 Düsseldorf, Germany., Adjaye J; Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine University Düsseldorf, 40225 Düsseldorf, Germany.; Zayed Centre for Research into Rare Diseases in Children (ZCR), University College London (UCL)-EGA Institute for Women's Health, 20 Guilford Street, London WC1N 1DZ, UK.
Publikováno v:
Cells [Cells] 2023 Sep 14; Vol. 12 (18). Date of Electronic Publication: 2023 Sep 14.
Autor:
D'Antiga L; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Beuers U; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Ronzitti G; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Brunetti-Pierri N; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Baumann U; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Di Giorgio A; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Aronson S; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Hubert A; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Romano R; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Junge N; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Bosma P; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Bortolussi G; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Muro AF; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Soumoudronga RF; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Veron P; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Collaud F; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Knuchel-Legendre N; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Labrune P; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.)., Mingozzi F; From Department of Pediatric Hepatology, Gastroenterology, and Transplantation, Hospital Papa Giovanni XXIII, Bergamo (L.D., A.D.G.), Scuola Superiore Meridionale, Genomics and Experimental Medicine Program (N.B.-P.), Department of Translational Medicine, University of Naples Federico II, Naples (N.B.-P., R.R.), Telethon Institute of Genetics and Medicine, Pozzuoli (N.B.-P.), and the International Center for Genetic Engineering and Biotechnology, Trieste (G.B., A.F.M.) - all in Italy; Tytgat Institute for Liver and Intestinal Research, Department of Hepatology and Gastroenterology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam (U. Beuers, S.A., P.B.); Université d'Evry, Université Paris-Saclay, INSERM, Genethon, Integrare Research Unit UMR_S951 (G.R., F.C., F.M.) and Genethon (G.R., R.F.S., P.V., F.C., N.K.-L., F.M.), Evry, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Centre de Référence pour les Maladies Rares, Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Clamart (A.H., P.L.), and Université Paris-Saclay and INSERM Unité 1195, Le Kremlin Bicêtre (A.H., P.L.) - all in France; the Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany (U. Baumann, N.J.); and Spark Therapeutics, Philadelphia (F.M.).
Publikováno v:
The New England journal of medicine [N Engl J Med] 2023 Aug 17; Vol. 389 (7), pp. 620-631.