Zobrazeno 1 - 10
of 3 230
pro vyhledávání: '"Glycogen Storage Disease Type I"'
Autor:
Vai S; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy., Falchetti A; Endocrinology Unit, Niguarda Hospital, Milan, Italy., Corbetta S; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy., Bianchi ML; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy., Alberio C; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy., Carrara S; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy., Gasperini S; Rare Metabolic Diseases Unit, Paediatrics Clinic, IRCCS Foundation San Gerardo Dei Tintori, Monza, Italy., Pretese R; Rare Metabolic Diseases Unit, Paediatrics Clinic, IRCCS Foundation San Gerardo Dei Tintori, Monza, Italy., Parisi L; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Via Vetoio, Coppito 2, 67100, L'Aquila, Italy., Teti A; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Via Vetoio, Coppito 2, 67100, L'Aquila, Italy. annamaria.teti@univaq.it., Maurizi A; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Via Vetoio, Coppito 2, 67100, L'Aquila, Italy.
Publikováno v:
Calcified tissue international [Calcif Tissue Int] 2024 Nov; Vol. 115 (5), pp. 661-672. Date of Electronic Publication: 2024 Oct 25.
Autor:
Rajasekaran V; Liver Unit (Including Small Bowel Transplantation), Birmingham Children's Hospital, Birmingham, UK., Santra S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Kelgeri C; Liver Unit (Including Small Bowel Transplantation), Birmingham Children's Hospital, Birmingham, UK., Johansen L; Liver Unit (Including Small Bowel Transplantation), Birmingham Children's Hospital, Birmingham, UK., Vijay S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Sreekantam S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Raiman J; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Daly A; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Sharif K; Liver Unit (Including Small Bowel Transplantation), Birmingham Children's Hospital, Birmingham, UK., Kitchen S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Gupte G; Liver Unit (Including Small Bowel Transplantation), Birmingham Children's Hospital, Birmingham, UK.
Publikováno v:
Pediatric transplantation [Pediatr Transplant] 2024 Nov; Vol. 28 (7), pp. e14839.
Autor:
Rossi A; Section of Pediatrics, Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Ruoppolo M; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy; CEINGE Biotecnologie Avanzate s.c.ar.l., Naples, Italy., Fedele R; CEINGE Biotecnologie Avanzate s.c.ar.l., Naples, Italy., Pirozzi F; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy., Rosano C; Section of Pediatrics, Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy., Auricchio R; Section of Pediatrics, Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy., Melis D; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Salerno, Italy., Strisciuglio P; Section of Pediatrics, Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy., Oosterveer MH; Department of Pediatrics and Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Derks TGJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Parenti G; Section of Pediatrics, Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Caterino M; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy; CEINGE Biotecnologie Avanzate s.c.ar.l., Naples, Italy. Electronic address: marianna.caterino@unina.it.
Publikováno v:
Journal of lipid research [J Lipid Res] 2024 Oct; Vol. 65 (10), pp. 100651. Date of Electronic Publication: 2024 Sep 19.
Autor:
Sowa M; Division of Metabolics, Children's Hospital of Orange County, Orange, CA 92868, USA., Boyer M; Division of Metabolics, Children's Hospital of Orange County, Orange, CA 92868, USA., Green J; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Pendyal S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Saavedra H; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Children's Memorial Hermann Hospital, Houston, TX 77030, USA.
Publikováno v:
Nutrients [Nutrients] 2024 Sep 25; Vol. 16 (19). Date of Electronic Publication: 2024 Sep 25.
Autor:
Yu J; Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China., Ling X; Grandomics Biosciences, Beijing, China., Chen L; Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China., Fang Y; Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China., Lin H; Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China., Lou J; Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China., Ren Y; Grandomics Biosciences, Beijing, China., Chen J; Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Sep; Vol. 106 (3), pp. 267-276. Date of Electronic Publication: 2024 Apr 05.
Autor:
Kanemaru Y; Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan., Harada N; Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan., Wada N; Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan., Yasuda T; Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan., Okamura E; Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan., Fujii T; Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan., Ogura M; Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan., Inagaki N; Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan.; P.I.I.F. Tazuke-Kofukai Medical Research Institute, Kitano Hospital, Japan.
Publikováno v:
Internal medicine (Tokyo, Japan) [Intern Med] 2024 Aug 01; Vol. 63 (15), pp. 2153-2156. Date of Electronic Publication: 2024 Jan 02.
Autor:
Monteiro V; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Undergraduate program in Food Technology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil., Colonetti K; Basic Research and Advanced Investigations in Neurosciences Laboratory (B.R.A.I.N), Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil., Pagno CH; Bioactive Compounds Laboratory, Institute of Food Science and Technology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Schmidt HO; Bioactive Compounds Laboratory, Institute of Food Science and Technology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Sperb-Ludwig F; Basic Research and Advanced Investigations in Neurosciences Laboratory (B.R.A.I.N), Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil., Oliveira BM; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Poloni S; Medical Genetics and Nutrition Services, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil., Rios AO; Bioactive Compounds Laboratory, Institute of Food Science and Technology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., de Souza CFM; Medical Genetics and Nutrition Services, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil., Schwartz IVD; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. ischwartz@hcpa.edu.br.; Basic Research and Advanced Investigations in Neurosciences Laboratory (B.R.A.I.N), Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil. ischwartz@hcpa.edu.br.; Medical Genetics and Nutrition Services, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil. ischwartz@hcpa.edu.br.; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. ischwartz@hcpa.edu.br.; Center for Clinical Research, Nuclimed, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil. ischwartz@hcpa.edu.br.; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, Porto Alegre, 2350, 90035-003, RS, Brazil. ischwartz@hcpa.edu.br.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jul 30; Vol. 19 (1), pp. 283. Date of Electronic Publication: 2024 Jul 30.
Autor:
Klinc A; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Groselj U; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Mlinaric M; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Homan M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Gastroenterology, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Markelj G; Department of Allergology, Rheumatology and Clinical Immunology, University Children's Hospital Ljubljana, Ljubljana, Slovenia., Mezek Novak A; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Sirca Campa A; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Sikonja J; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes and Metabolic Disease, Division of Internal Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Battelino T; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Zerjav Tansek M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Drole Torkar A; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Publikováno v:
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Jun 11; Vol. 15, pp. 1365700. Date of Electronic Publication: 2024 Jun 11 (Print Publication: 2024).
Autor:
Kaczor M; Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland., Malicki S; Department of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnologies, Jagiellonian University, Krakow, Poland., Folkert J; Department of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnologies, Jagiellonian University, Krakow, Poland., Dobosz E; Department of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnologies, Jagiellonian University, Krakow, Poland., Bryzek D; Department of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnologies, Jagiellonian University, Krakow, Poland., Chruscicka-Smaga B; Department of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnologies, Jagiellonian University, Krakow, Poland., Greczan M; Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland., Wesół-Kucharska D; Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland., Piątosa B; Histocompatibility Laboratory, Children's Memorial Health Institute, Warsaw, Poland., Samborowska E; Inborn Errors of Metabolism Laboratory, Children's Memorial Health Institute, Warsaw, Poland., Madzio J; Department of Pediatrics, Oncology & Hematology, Medical University of Łódź, Łódź, Poland., Książyk J; Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland., Ehmke Vel Emczyńska E; Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland., Hajdacka M; Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland., Potempa J; Department of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnologies, Jagiellonian University, Krakow, Poland.; Department of Oral Immunology and Infectious Diseases, University of Louisville School of Dentistry, Louisville, KY., Młynarski W; Department of Pediatrics, Oncology & Hematology, Medical University of Łódź, Łódź, Poland., Rokicki D; Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland., Veillard F; Department of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnologies, Jagiellonian University, Krakow, Poland.
Publikováno v:
Blood advances [Blood Adv] 2024 Jun 11; Vol. 8 (11), pp. 2790-2802.
Autor:
Grünert SC; Department of General Paediatrics, Adolescent Medicine and Neonatology, University Medical Center Freiburg, Faculty of Medicine, Freiburg, Germany., Gautschi M; Inselspital, University Hospital Bern, Department of Paediatrics, Division of Paediatric Endocrinology, Diabetology and Metabolism, Freiburgstrasse, 3010 Bern, Switzerland; Inselspital, University Hospital Bern, Institute of Clinical Chemistry, Freiburgstrasse, 3010 Bern, Switzerland., Baker J; Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, United States of America; Northwestern University School of Medicine, 225 East Chicago Ave, Box 59, Chicago, IL 60611-2991;, United States of America., Boyer M; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, United States of America., Burlina A; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, 35129 Padova, Italy., Casswall T; Paediatric Gastroenterology, Hepatology, and Nutrition, Karolinska University Hospital, and CLINTEC, Karolinska Institutet, Stockholm, Sweden., Corpeleijn W; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Gastroenterology, Endocrinology & Metabolism, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Çıki K; Kısmet Çıki, Van Research and State Hospital, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Van, Turkey., Cotter M; Dept of Haematology, Childrens Health Ireland, Temple st, Dublin, and School of Medicine, University College Dublin, Ireland., Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Temple st, Dublin, and School of Medicine, University College Dublin, Ireland., Derks TGJ; Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Haas D; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Kilavuz S; Marmara University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, İstanbul, Turkey., Kingma SDK; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Edegem, Antwerp, Belgium., Korman SH; Wolf Children's Hospital, Shaare Zedek Medical Center, Jerusalem, Israel., Kozek A; Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, 225 East Chicago Ave, Box 59, Chicago, IL 60611-2991, United States of America., de Laet C; Nutrition and Metabolic Clinic, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Bruxelles, Belgium., Mundy H; Evelina London Children's Hospital, London, UK., Nassogne MC; Division of Pediatric neurology, Department of Pediatrics Cliniques Universitaires Saint-Luc (CUSL), UCLouvain, Bruxelles, Belgium., Quintero V; Paediatric Heamatology Oncology Deparment, Hospital Universitario La Paz, Madrid, Spain., Rossi A; Department of Translational Medicine, Section of Pediatrics, University of Naples 'Federico II', Naples, Italy., Spenger J; University Children's Hospital Salzburg, Salzburger Landeskliniken und Paracelsus Medical University, Salzburg, Austria., Spiegel R; Pediatric Department B, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel., Stephenne X; Division of Paediatric Gastroenterology and Hepatology, Department of Paediatrics, Cliniques Universitaires Saint-Luc, UC Louvain, Brussels, Belgium., Stojkov D; Inselspital, University Hospital Bern, Institute of Pharmacology, Freiburgstrasse, 3010 Bern, Switzerland., Tal G; Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Veiga-da Cunha M; Metabolic Research Group, de Duve Institute and UCLouvain, Brussels, Belgium., Wortmann SB; University Children's Hospital Salzburg, Salzburger Landeskliniken und Paracelsus Medical University, Salzburg, Austria; Amalia Children's Hospital, Radboudumc, Nijmegen, the Netherlands. Electronic address: s.wortmann@salk.at.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108486. Date of Electronic Publication: 2024 Apr 27.