Zobrazeno 1 - 10
of 14 251
pro vyhledávání: '"PHENYLKETONURIAS"'
Autor:
Cao Y; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Charité - University Medicine, Berlin, Germany., Popp O; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Milani N; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Charité - University Medicine, Berlin, Germany., Qadri F; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Kühn R; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Mertins P; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Bader M; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Charité - University Medicine, Berlin, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Berlin, Berlin, Germany.; Institute for Biology, University of Lübeck, Lübeck, Germany., Alenina N; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany. alenina@mdc-berlin.de.; DZHK (German Center for Cardiovascular Research), Partner Site Berlin, Berlin, Germany. alenina@mdc-berlin.de.
Publikováno v:
Communications biology [Commun Biol] 2024 Dec 18; Vol. 7 (1), pp. 1641. Date of Electronic Publication: 2024 Dec 18.
Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.
Autor:
Brachet M; Centre Mémoire de Ressources Et de Recherche, CHRU de Tours, Tours, France., Charrière S; Fédération d'Endocrinologie, Maladies Métaboliques, Diabète Et Nutrition, Hôpital Louis Pradel, Hospices Civils de Lyon, 69677, Bron Cedex, France.; Hospices Civils de Lyon, Centre de Référence Des Maladies Héréditaires du Métabolisme de Lyon, Groupement Hospitalier Est, 69677, Bron Cedex, France.; CarMen Laboratory, INSERM, INRAE, Université Claude Bernard Lyon 1, 69310, Pierre Bénite, France., Douillard C; Service d'Endocrinologie Et Des Maladies Métaboliques, Centre de Référence Des Maladies Héréditaires du Métabolisme, CHU de Lille, 59037, Lille, France., Feillet F; Centre de Référence Des Maladies Métaboliques, Service de Pédiatrie, CHRU de Nancy, INSERM 1256 NGERE, 54000, Nancy, France., Fouilhoux A; Hospices Civils de Lyon, Centre de Référence Des Maladies Héréditaires du Métabolisme de Lyon, Groupement Hospitalier Est, 69677, Bron Cedex, France., Astudillo L; Service de Médecine Interne, Service de Médecine Interne Clinique Saint-Exupery, CHU de Toulouse, Toulouse, France., Lavigne C; Service de Médecine Interne Et d'Immunologie Clinique, CHU d'Angers, 49100, Angers, France., Arnoux JB; Centre de Référence Des Maladies Métaboliques, Hôpital Necker-Enfants Malades, AP-HP, 75015, Paris, France., Odent S; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, Univ Rennes, IGDR Institut de Génétique Et Développement de Rennes, CNRS INSERM UMR 6290 URL 1305, Rennes, France., Gay C; Service de Pédiatrie, Centre de Compétence Des Maladies Héréditaires du Métabolisme, CHU de Saint-Étienne, Hôpital Nord, 40255, Saint-Étienne Cedex 2, France., Schiff M; Reference Center for Inborn Errors of Metabolism, Necker University Hospital, APHP and University of Paris Cité, Filière G2M, INSERM UMRS_1163, Institut Imagine Paris, MetabERN, Paris, France., Mazodier K; Centre de Référence Des Maladies Métaboliques, Service de Médecine Interne Et Immunologie Clinique, Hôpital de La Conception, AP-HM, 13005, Marseille, France., Kuster A; Service de Pédiatrie, CHU de Nantes, 44093, Nantes, France., Rigalleau V; Service d'Endocrinologie, Diabétologie, Nutrition, Hôpital Haut-Lévêque, CHU de Bordeaux, 33600, Pessac, France., Thauvin-Robinet C; Centre de Référence Déficiences Intellectuelles de Causes Rares, Centre de Génétique, Hôpital d'Enfants, Inserm-Université de Bourgogne, U1231 GAD, Génétique Des Anomalies du Développement, CHU Dijon Bourgogne, 21079, Dijon, France., Leguy-Seguin V; Service de Médecine Interne Et d'Immunologie Clinique, CHU de Dijon, 21079, Dijon, France., Gissot V; Centre d'investigation Clinique CIC 1415, INSERM, CHRU de Tours, Tours, France., Maillot F; Service de Médecine Interne, Centre de Référence Des Maladies Héréditaires du Métabolisme, UMR INSERM 1253 « iBraiN », Université de Tours, CHU de Tours, Tours, France. francois.maillot@univ-tours.fr.; Internal Medicine Department, University Hospital of Tours, 2 Bd Tonnellé, 37044, Tours Cedex, France. francois.maillot@univ-tours.fr.
Publikováno v:
Journal of neurology [J Neurol] 2024 Dec 12; Vol. 272 (1), pp. 53. Date of Electronic Publication: 2024 Dec 12.
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:
Pinto A; Birmingham Women's and Children's Hospital, Birmingham, UK; Plymouth Institute of Health and Care Research, Faculty of Health, University of Plymouth, UK. Electronic address: alex.pinto@nhs.net., Daly A; Birmingham Women's and Children's Hospital, Birmingham, UK., Newby C; Bristol Royal Hospital for Children, Upper Maudlin St, Bristol, UK., Robotham A; Bristol Royal Hospital for Children, Upper Maudlin St, Bristol, UK., Heales S; UCL Great Ormond Street Institute of Child Health, London, UK., Eaton S; UCL Great Ormond Street Institute of Child Health, London, UK., Aitkenhead H; Department of Chemical Pathology, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Gilmour K; Cell Therapy and Immunology, NIHR GOSH BRC, Camelia Botnar Laboratories, Great Ormond Street Hospital for Children, London, UK., Jackson R; Department of Health Data Science, University of Liverpool, Liverpool, UK., Ashmore C; Birmingham Women's and Children's Hospital, Birmingham, UK., Evans S; Birmingham Women's and Children's Hospital, Birmingham, UK., Rocha JC; Nutrition and Metabolism, NOVA Medical School (NMS), Faculdade de Ciências Médicas (FCM), Universidade Nova de Lisboa, Lisboa, Portugal,; CINTESIS@RISE, Nutrition and Metabolism, NOVA Medical School (NMS), Faculdade de Ciências Médicas, (FCM), Universidade NOVA de Lisboa, Campo Mártires da Pátria, Lisboa, Portugal; Reference Center of Inherited Metabolic Diseases, Centro Hospitalar Universitario de Lisboa Central, Lisboa, Portugal; Comprehensive Health Research Centre (CHRC), NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal., Ilgaz F; Department of Nutrition and Dietetics, Faculty of Health Sciences, Hacettepe University, Ankara, Turkey., Hickson M; Plymouth Institute of Health and Care Research, Faculty of Health, University of Plymouth, UK., MacDonald A; Birmingham Women's and Children's Hospital, Birmingham, UK.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Dec; Vol. 143 (4), pp. 108607. Date of Electronic Publication: 2024 Nov 04.
Autor:
Talebi S; Department of Pediatric Assistant Professor of Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address: Talebis@mums.ac.ir., Eshraghi P; Department of Pediatric, Associated Professor of Mashhad University of Medical Sciences, Mashhad, Iran.
Publikováno v:
Clinical nutrition ESPEN [Clin Nutr ESPEN] 2024 Dec; Vol. 64, pp. 307-313. Date of Electronic Publication: 2024 Oct 19.
Autor:
Burlina AP; Neurology Unit, St. Bassiano Hospital, Bassano del Grappa, Italy., Manara R; Neuroradiology Unit, University Hospital of Padua, Padua, Italy., Carretta J; Neurology Unit, St. Bassiano Hospital, Bassano del Grappa, Italy., Cazzorla C; Division of Inherited Metabolic Diseases, University Hospital of Padua, Padua, Italy., Loro C; Division of Inherited Metabolic Diseases, University Hospital of Padua, Padua, Italy., Gragnaniello V; Division of Inherited Metabolic Diseases, University Hospital of Padua, Padua, Italy., Burlina AB; Division of Inherited Metabolic Diseases, University Hospital of Padua, Padua, Italy.
Publikováno v:
European journal of neurology [Eur J Neurol] 2024 Dec; Vol. 31 (12), pp. e16508. Date of Electronic Publication: 2024 Oct 04.
Autor:
Ostrowska M; Department of Biotechnology, Microbiology and Human Nutrition, University of Life Sciences in Lublin, 8 Skromna St., 20-704 Lublin, Poland., Nowosad K; Department of Biotechnology, Microbiology and Human Nutrition, University of Life Sciences in Lublin, 8 Skromna St., 20-704 Lublin, Poland., Mikoluc B; Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University of Bialystok, 15-274 Bialystok, Poland., Szczerba H; Department of Biotechnology, Microbiology and Human Nutrition, University of Life Sciences in Lublin, 8 Skromna St., 20-704 Lublin, Poland., Komon-Janczara E; Department of Biotechnology, Microbiology and Human Nutrition, University of Life Sciences in Lublin, 8 Skromna St., 20-704 Lublin, Poland.
Publikováno v:
Nutrients [Nutrients] 2024 Nov 16; Vol. 16 (22). Date of Electronic Publication: 2024 Nov 16.
Autor:
Aguirre AS; School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador., Haro E; School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador., Campodónico A; School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador., Arias-Almeida B; School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.; Instituto de Microbiología, Colegio de Ciencias Biológicas y Ambientales, Universidad San Francisco de Quito, Quito, Ecuador., Mendoza A; School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador., Pozo-Palacios J; School of Medicine, Universidad de Cuenca, Cuenca, Ecuador., Aguilar VIR; School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador. vromero@usfq.edu.ec.
Publikováno v:
BMC pediatrics [BMC Pediatr] 2024 Nov 15; Vol. 24 (1), pp. 739. Date of Electronic Publication: 2024 Nov 15.
SLC6A19 inhibition facilitates urinary neutral amino acid excretion and lowers plasma phenylalanine.
Autor:
Wobst HJ; Jnana Therapeutics, Boston, Massachusetts, USA., Viader A; Jnana Therapeutics, Boston, Massachusetts, USA., Muncipinto G; Jnana Therapeutics, Boston, Massachusetts, USA., Hollibaugh R; Jnana Therapeutics, Boston, Massachusetts, USA., van Kalken D; Jnana Therapeutics, Boston, Massachusetts, USA., Burkhart CT; Jnana Therapeutics, Boston, Massachusetts, USA., Cantin SM; Jnana Therapeutics, Boston, Massachusetts, USA., Bates RM; Jnana Therapeutics, Boston, Massachusetts, USA., Regimbald-Dumas Y; Jnana Therapeutics, Boston, Massachusetts, USA., Gross L; Jnana Therapeutics, Boston, Massachusetts, USA., Antalek MT; Jnana Therapeutics, Boston, Massachusetts, USA., Zweig JE; Jnana Therapeutics, Boston, Massachusetts, USA., Wu F; Jnana Therapeutics, Boston, Massachusetts, USA., Rettenmaier TJ; Jnana Therapeutics, Boston, Massachusetts, USA., Labenski MT; Jnana Therapeutics, Boston, Massachusetts, USA., Pullen N; Jnana Therapeutics, Boston, Massachusetts, USA., Blanchette HS; Jnana Therapeutics, Boston, Massachusetts, USA., Henderson JL; Jnana Therapeutics, Boston, Massachusetts, USA., Weng HH; HW MedAdvice LLC, San Diego, California, USA., Vaughn TA; Jnana Therapeutics, Boston, Massachusetts, USA., Brown DG; Jnana Therapeutics, Boston, Massachusetts, USA., Throup JP; Jnana Therapeutics, Boston, Massachusetts, USA., Barrish JC; Jnana Therapeutics, Boston, Massachusetts, USA.
Publikováno v:
JCI insight [JCI Insight] 2024 Nov 08; Vol. 9 (21). Date of Electronic Publication: 2024 Nov 08.
Autor:
Sigg MA; BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: monika.sigg@bmrn.com., Wilson C; Department of Data Science & Analytics, BioMarin Pharmaceutical Inc. through Redbock, Encinitas, CA, USA., Clague GE; BioMarin Pharmaceutical Inc., Novato, CA, USA., Zhou H; BioMarin Pharmaceutical Inc., Novato, CA, USA., Su C; BioMarin Pharmaceutical Inc., Novato, CA, USA., Berguig GY; BioMarin Pharmaceutical Inc., Novato, CA, USA.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Nov; Vol. 143 (3), pp. 108580. Date of Electronic Publication: 2024 Sep 23.