Zobrazeno 1 - 10
of 63 762
pro vyhledávání: '"INBORN-ERRORS"'
Autor:
Zhu J; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China.; Xinjiang Clinical Research Center for Perinatal Diseases, Urumqi, China., Han L; Neonatal Department, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China., Yang P; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China., Feng Z; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China., Xue S; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China.; Xinjiang Clinical Research Center for Perinatal Diseases, Urumqi, China.
Publikováno v:
PeerJ [PeerJ] 2024 Dec 09; Vol. 12, pp. e18173. Date of Electronic Publication: 2024 Dec 09 (Print Publication: 2024).
Autor:
Imbard A; Service de Biochimie, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Université Paris-Saclay, CEA, Département Médicaments et Technologies pour la Santé, Gif-sur-Yvette, France., de Calbiac H; INSERM U1151, Institut Necker Enfants-Malades (INEM), Paris, France., Le Guillou E; Service de Biochimie, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Université Paris Cité, INSERM, Paris, France., Laforêt P; Service de Neurologie, CHU Paris IdF Ouest - Hôpital Raymond Poincaré, APHP, Garches, France., Schiff M; Université Paris Cité, INSERM, Paris, France.; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Filière G2M, MetabERN, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France., Brassier A; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Filière G2M, MetabERN, Paris, France., Thevenet E; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Filière G2M, MetabERN, Paris, France., Pontoizeau C; Service de Biochimie, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France., Lefrère B; Service de Biochimie, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Ottolenghi C; Service de Biochimie, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France., Lebigot E; Service de Biochimie, Hôpital Universitaire Kremlin-Bicêtre, APHP, Le Kremlin-Bicêtre, France., Gaignard P; Service de Biochimie, Hôpital Universitaire Kremlin-Bicêtre, APHP, Le Kremlin-Bicêtre, France., Gobin S; Département de Génétique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Paris, France., Acquaviva-Bourdain C; LBMMS - Service Biochimie et Biologie Moléculaire, CHU de Lyon HCL - GH Est, Bron, France., Benoist JF; Service de Biochimie, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Université Paris-Saclay, CEA, Département Médicaments et Technologies pour la Santé, Gif-sur-Yvette, France., Tuchmann-Durand C; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Filière G2M, MetabERN, Paris, France.; Institut Imagine, Centre d'Investigation Clinique pour les Thérapies innovantes, Département de Biothérapie, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Legendre A; Centre de référence Malformations Cardiaques Congénitales Complexes M3C - Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., de Lonlay P; INSERM U1151, Institut Necker Enfants-Malades (INEM), Paris, France.; Université Paris Cité, INSERM, Paris, France.; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Filière G2M, MetabERN, Paris, France.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12819. Date of Electronic Publication: 2024 Dec 09.
Autor:
Schwahn BC; Division of Evolution & Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., van Spronsen F; Department of Metabolic Diseases, Beatrix Children's, University Medical Center (UMC) Groningen, Groningen, Netherlands., Misko A; Massachusetts General Hospital Department of Neurology, Boston, Massachusetts, USA., Pavaine J; Department of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, University of Manchester, Manchester, UK.; Division of Informatics, Imaging & Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Holmes V; Willink Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Spiegel R; Department of Pediatrics Unit B, Emek Medical Center, Afula, Israel., Schwarz G; Center for Molecular Medicine Cologne, Köln, Germany., Wong F; Monash Children's Hospital/Hudson Institute of Medical Research/Monash University, Melbourne, Victoria, Australia., Horman A; Great Ormond Street Hospital, London, UK., Pitt J; Victorian Clinical Genetics Services, The Royal Children's Hospital, Parkville, Victoria, Australia., Sass JO; RG Inborn Error of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany., Lubout C; Department of Metabolic Diseases, Beatrix Children's, University Medical Center (UMC) Groningen, Groningen, Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 598-623. Date of Electronic Publication: 2024 Apr 16.
Autor:
Couce ML; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain. maria.luz.couce.pico@sergas.es.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain. maria.luz.couce.pico@sergas.es., Bóveda MD; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Castiñeiras DE; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Vázquez-Mosquera ME; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Barbosa-Gouveia S; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., De Castro MJ; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Iglesias-Rodríguez AJ; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Colón C; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Cocho JA; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Sánchez P; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 May 17; Vol. 19 (1), pp. 202. Date of Electronic Publication: 2024 May 17.
Autor:
Engelke UFH; Translational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Zammit A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gerritsen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Michels MAHM; Translational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Coene KLM; Laboratory of Clinical Chemistry and Hematology, Maxima Medical Center, Veldhoven, The Netherlands., Kluijtmans LAJ; Translational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Kulkarni P; Translational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. purva.kulkarni@radboudumc.nl.
Publikováno v:
Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2025; Vol. 2855, pp. 555-571.
Autor:
Guerrero-Barrios S; Benemérita Universidad Autónoma de Puebla, Facultad de Medicina, División de Investigación en Salud. Puebla, Puebla, México., Chiquillo-Domínguez M; Benemérita Universidad Autónoma de Puebla, Facultad de Medicina, División de Investigación en Salud. Puebla, Puebla, México., Ayón-Aguilar J; Instituto Mexicano del Seguro Social, Órgano de Operación Administrativa Desconcentrada Estatal Puebla, Coordinación Auxiliar Médica de Investigación en Salud. Puebla, Puebla, México., Rodriguez-Alfaro SE; Universidad Popular Autónoma del Estado de Puebla, Facultad de Medicina, Departamento del Área de la Salud. Puebla, Puebla, México., Méndez-Martínez S; Instituto Mexicano del Seguro Social, Órgano de Operación Administrativa Desconcentrada, Coordinación de Planeación y Enlace Institucional. Puebla, Puebla, México., García-Flores MA; Instituto Mexicano del Seguro Social, Órgano de Operación Administrativa Desconcentrada Estatal Puebla, Coordinación Auxiliar Médica de Educación en Salud. Puebla, Puebla, México.
Publikováno v:
Revista medica del Instituto Mexicano del Seguro Social [Rev Med Inst Mex Seguro Soc] 2024 Nov 04; Vol. 62 (6), pp. 1-7. Date of Electronic Publication: 2024 Nov 04.
Autor:
Greenberg-Kushnir N; Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Faculty of Medicinal and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Grossmann LD; Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Barg AA; Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Faculty of Medicinal and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Schiby G; Faculty of Medicinal and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Division of Pathology, Sheba Medical Center, Tel Hashomer, Israel., Mardoukh C; Faculty of Medicinal and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Division of Pathology, Sheba Medical Center, Tel Hashomer, Israel., Varda-Bloom N; Stem Cell Processing Laboratory, Sheba Medical Center, Tel Hashomer, Israel., Marcu-Malina V; Hematology Laboratory, Sheba Medical Center, Tel Hashomer, Israel., Anikster Y; Faculty of Medicinal and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Gruber N; Faculty of Medicinal and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Lahav E; Faculty of Medicinal and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Bolkier Y; Faculty of Medicinal and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Bar D; Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Bielorai B; Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Faculty of Medicinal and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Toren A; Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Faculty of Medicinal and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Jacoby E; Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Faculty of Medicinal and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Publikováno v:
Pediatric blood & cancer [Pediatr Blood Cancer] 2025 Jan; Vol. 72 (1), pp. e31383. Date of Electronic Publication: 2024 Oct 13.
Autor:
Rock R; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat-Gan, Israel.; Metabolic Diseases Clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-HaShomer, Israel., Rock O; Department of Ophthalmology, Sheba Medical Center, Tel-HaShomer, Israel.; Faculty of Medicine and Health Sciences, Tel Aviv University, Tel-Aviv, Israel., Daas S; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat-Gan, Israel., Biton-Regev V; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat-Gan, Israel., Sagiv N; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat-Gan, Israel., Salah NA; Department of Neonatology, Shaare Zedek Medical Center, Jerusalem, Israel.; Department of Neonatology, Red Crescent Society Hospital, Jerusalem, Israel., Anikster Y; Faculty of Medicine and Health Sciences, Tel Aviv University, Tel-Aviv, Israel.; Edmond and Lily Safra Children's Hospital Sheba Medical Center, Tel-HaShomer, Ramat Gan, Israel., Barel O; Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Tel-HaShomer, Ramat Gan, Israel., Cohen RH; Pediatric Neurology Unit and Magen Rare Disease Center, Wolfson Medical Center, Holon, Israel., Dumin E; Clinical Metabolic Laboratory, Sheba Medical Center, Tel-HaShomer, Ramat Gan, Israel.; Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Fattal-Valevski A; Faculty of Medicine and Health Sciences, Tel Aviv University, Tel-Aviv, Israel.; Pediatric Neurology Unit, Dana Children Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Falik-Zaccai T; Institute of Human Genetics, The Galilee Medical Center, Naharia, Israel.; The Azrieli Faculty of Medicine, Bar Ilan, Israel., Herskovitz E; Pediatric D Department, Soroka Medical Center, Beer Sheva, Israel.; Faculty of Health Sciences, Ben-Gurion University, Beer Sheva, Israel., Josefsberg S; Genetics Institute, Kaplan Medical Center, Rehovot, Israel., Khammash H; Department of Neonatology, Makassed Islamic Hospital, Jerusalem, Israel., Kneller K; Metabolic Diseases Clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-HaShomer, Israel., Korman SH; Wilf Children's Hospital, Shaare Zedek Medical Center, Jerusalem, Israel.; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Landau YE; Faculty of Medicine and Health Sciences, Tel Aviv University, Tel-Aviv, Israel.; Metabolic Disease Unit, Schneider Children's Medical Center of Israel, Tel Aviv University, Israel., Lerman-Sagie T; Faculty of Medicine and Health Sciences, Tel Aviv University, Tel-Aviv, Israel.; Pediatric Neurology Unit and Magen Rare Disease Center, Wolfson Medical Center, Holon, Israel., Mandel H; Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Pras E; Faculty of Medicine and Health Sciences, Tel Aviv University, Tel-Aviv, Israel.; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel., Reznik-Wolf H; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel., Shaag A; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Lotan NS; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Spiegel R; Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Department of Pediatrics B, Metabolic Service, Emek Medical Center, Afula, Israel., Tal G; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Staretz-Chacham O; Metabolic Clinic, Pediatric Division, Soroka University Medical Center, Ben Gurion University, Beer-Sheva, Israel., Wilnai Y; Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Almashanu S; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat-Gan, Israel.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12800. Date of Electronic Publication: 2024 Sep 24.
Autor:
Chakraborty S; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India., Kaur R; Pediatric Intensive Care, Department of Pediatrics, ABVIMS & Dr. RML Hospital, New Delhi, 110001, India., Patra B; Pediatric Intensive Care, Department of Pediatrics, ABVIMS & Dr. RML Hospital, New Delhi, 110001, India., Meena JP; Division of Pediatric Oncology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India., Kabra SK; Division of Pulmonology and Pediatric Critical Care, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India., Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. neerja17@gmail.com.
Publikováno v:
Indian journal of pediatrics [Indian J Pediatr] 2025 Jan; Vol. 92 (1), pp. 70-72. Date of Electronic Publication: 2024 May 04.
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.
Autor:
Bisello G; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Franchini R; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Carmona CAC; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Bertoldi M; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12791. Date of Electronic Publication: 2024 Aug 21.