يعرض 1 - 10 نتائج من 3,231 نتيجة بحث عن '"Glycogen Storage Disease Type I"', وقت الاستعلام: 1.24s تنقيح النتائج
  1. 1
    دورية أكاديمية

    المؤلفون: 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.

    المصدر: Internal medicine (Tokyo, Japan) [Intern Med] 2024 Aug 01; Vol. 63 (15), pp. 2153-2156. Date of Electronic Publication: 2024 Jan 02.

    نوع المنشور: Journal Article; Case Reports

    بيانات الدورية: Publisher: Japanese Society of Internal Medicine Country of Publication: Japan NLM ID: 9204241 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1349-7235 (Electronic) Linking ISSN: 09182918 NLM ISO Abbreviation: Intern Med Subsets: MEDLINE

  2. 2
    دورية أكاديمية

    المؤلفون: 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.

    المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jul 30; Vol. 19 (1), pp. 283. Date of Electronic Publication: 2024 Jul 30.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

  3. 3
    دورية أكاديمية

    المؤلفون: 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.

    المصدر: Clinical genetics [Clin Genet] 2024 Sep; Vol. 106 (3), pp. 267-276. Date of Electronic Publication: 2024 Apr 05.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

    SCR Disease Name: Glycogen Storage Disease Type Ix

  4. 4
    دورية أكاديمية

    المؤلفون: 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.

    المصدر: Pediatric transplantation [Pediatr Transplant] 2024 Nov; Vol. 28 (7), pp. e14839.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9802574 Publication Model: Print Cited Medium: Internet ISSN: 1399-3046 (Electronic) Linking ISSN: 13973142 NLM ISO Abbreviation: Pediatr Transplant Subsets: MEDLINE

    SCR Disease Name: Glycogen Storage Disease IB

  5. 5
    دورية أكاديمية

    المؤلفون: 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.

    المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Jun 11; Vol. 15, pp. 1365700. Date of Electronic Publication: 2024 Jun 11 (Print Publication: 2024).

    نوع المنشور: Case Reports; Journal Article

    بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

    SCR Disease Name: Glycogen Storage Disease IB

  6. 6
    دورية أكاديمية

    المؤلفون: 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.

    المصدر: Blood advances [Blood Adv] 2024 Jun 11; Vol. 8 (11), pp. 2790-2802.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE

    SCR Disease Name: Glycogen Storage Disease IB

  7. 7
    دورية أكاديمية

    المؤلفون: 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.

    المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108486. Date of Electronic Publication: 2024 Apr 27.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

    SCR Disease Name: Glycogen Storage Disease IB

  8. 8
    دورية أكاديمية

    المؤلفون: Kuzy J; Medical College, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA., Pulipati Y; Allegheny Health Network Graduate Medical Education, Pittsburgh, Pennsylvania, USA., Robertson T; Internal Medicine, Allegheny Health Network, Pittsburgh, Pennsylvania, USA thomas.robertson@ahn.org.

    المصدر: BMJ case reports [BMJ Case Rep] 2024 May 22; Vol. 17 (5). Date of Electronic Publication: 2024 May 22.

    نوع المنشور: Case Reports; Journal Article

    بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

  9. 9
    دورية أكاديمية

    المؤلفون: Wang A; Department of Pathology, West China Hospital, Sichuan University, Chengdu, 610000, China.; Department of Pathology, Affiliated Hospital of Panzhihua University, Panzhihua, 617000, China., Wu J; Department of Pathology, West China Hospital, Sichuan University, Chengdu, 610000, China., Yuan X; Department of Pathology, West China Hospital, Sichuan University, Chengdu, 610000, China., Liu J; Department of Pathology, West China Hospital, Sichuan University, Chengdu, 610000, China., Lu C; Department of Pathology, West China Hospital, Sichuan University, Chengdu, 610000, China. 13408587426@163.com.

    المصدر: BMC medical genomics [BMC Med Genomics] 2024 May 06; Vol. 17 (1), pp. 124. Date of Electronic Publication: 2024 May 06.

    نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

    بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

  10. 10
    دورية أكاديمية

    المؤلفون: Çekmen N; >From the Department of Anesthesiology and Intensive Care Unit, Baskent University, Faculty of Medicine, Ankara, Turkey., Haka D, Torgay A, Karakaya E, Yıldırım S, Haberal M

    المصدر: Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation [Exp Clin Transplant] 2024 May; Vol. 22 (5), pp. 402-405.

    نوع المنشور: Case Reports; Journal Article

    بيانات الدورية: Publisher: Bas̜kent University Country of Publication: Turkey NLM ID: 101207333 Publication Model: Print Cited Medium: Internet ISSN: 2146-8427 (Electronic) Linking ISSN: 13040855 NLM ISO Abbreviation: Exp Clin Transplant Subsets: MEDLINE