المؤلفون: Fu H; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Yang A, Du C, Liang Y

المصدر: Medicine [Medicine (Baltimore)] 2024 Aug 09; Vol. 103 (32), pp. e39091.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease*/diagnosis, Humans ; Female ; Child, Preschool ; Body Height ; Growth Disorders/diagnosis ; Growth Disorders/etiology ; Starch/therapeutic use ; China ; East Asian People ; Glycogen Storage Disease Type I

SCR Disease Name: Hepatorenal form of glycogen storage disease

المؤلفون: Ravaglia S; Neuromuscular Unit, IRCCS Fondazione Mondino, Pavia, Italy. sabrina.ravaglia@mondino.it., Gana S; Neurogenetics Research Center, IRCCS Fondazione Mondino, Pavia, Italy., Valente EM; Neurogenetics Research Center, IRCCS Fondazione Mondino, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.

المصدر: Pediatric research [Pediatr Res] 2024 Jul; Vol. 96 (2), pp. 279-280. Date of Electronic Publication: 2024 Mar 21.

نوع المنشور: Letter

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , Glycogen Storage Disease*/genetics , Genetic Association Studies*, Humans ; Genotype ; Mutation ; Male ; Glycogen Storage Disease Type I

SCR Disease Name: Hepatorenal form of glycogen storage disease

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

مواضيع طبية MeSH: Glycogen Storage Disease*/genetics , Glycogen Storage Disease Type I*/genetics , Glycogen Storage Disease Type VI*/genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; China ; East Asian People/genetics ; Genetic Association Studies ; Genotype ; High-Throughput Nucleotide Sequencing ; Mutation ; Phenotype

SCR Disease Name: Glycogen Storage Disease Type Ix

المؤلفون: Rossi A; Department of Translational Medicine, Section of Pediatrics, University of Naples Federico II, Naples, Italy., Malvagia S; Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's Hospital IRCCS, Florence, Italy., la Marca G; Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy., Parenti G; Department of Translational Medicine, Section of Pediatrics, University of Naples Federico II, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; School of Advanced Studies, Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, University of Naples Federico II, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; School of Advanced Studies, Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy. Electronic address: brunetti@tigem.it.

المصدر: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2024 Sep 04; Vol. 32 (9), pp. 2930-2938. Date of Electronic Publication: 2024 Jun 06.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-0024 (Electronic) Linking ISSN: 15250016 NLM ISO Abbreviation: Mol Ther Subsets: MEDLINE

مواضيع طبية MeSH: Lysosomal Storage Diseases*/therapy , Lysosomal Storage Diseases*/genetics , Genetic Therapy*/methods , Biomarkers* , Clinical Trials as Topic*, Humans ; Animals ; Lysosomes/metabolism

المؤلفون: Darie-Ion L; Group of Biochemistry, Faculty of Chemistry, Alexandru Ioan Cuza University of Iasi, Iaşi, Romania., Petre BA; Group of Biochemistry, Faculty of Chemistry, Alexandru Ioan Cuza University of Iasi, Iaşi, Romania.; Laboratory of Proteomics, Center for Fundamental Research and Experimental Development in Translation Medicine-TRANSCEND, Regional Institute of Oncology, Iaşi, Romania.

المصدر: Mass spectrometry reviews [Mass Spectrom Rev] 2024 Sep-Oct; Vol. 43 (5), pp. 1135-1149. Date of Electronic Publication: 2023 Aug 16.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8219702 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2787 (Electronic) Linking ISSN: 02777037 NLM ISO Abbreviation: Mass Spectrom Rev Subsets: MEDLINE

مواضيع طبية MeSH: Lysosomal Storage Diseases*/diagnosis , Lysosomal Storage Diseases*/blood , Lysosomal Storage Diseases*/metabolism , Tandem Mass Spectrometry*/methods , Dried Blood Spot Testing*/methods, Humans ; Chromatography, Liquid/methods

المؤلفون: Yang J; Lab of Beef Processing and Quality Control, College of Food Science and Engineering, Shandong Agricultural University, Tai'an, Shandong 271018, PR China; International Joint Research Lab (China and Greece) of Digital Transformation as an Enabler for Food Safety and Sustainability, Tai'an, Shandong 271018, PR China., Chen X; Lab of Beef Processing and Quality Control, College of Food Science and Engineering, Shandong Agricultural University, Tai'an, Shandong 271018, PR China; Liaocheng Research Institute of Donkey High-Efficiency Breeding and Ecological Feeding, Liaocheng University, 252000, PR China., Duan X; Lab of Beef Processing and Quality Control, College of Food Science and Engineering, Shandong Agricultural University, Tai'an, Shandong 271018, PR China., Li K; Key Laboratory of Cold Chain Food Processing and Safety Control, Ministry of Education, Zhengzhou University of Light Industry, Zhengzhou 450001, PR China., Cheng H; Institute of Animal Science and Veterinary Medicine, Shandong Academy of Agricultural Sciences, Ji'nan, Shandong 250100, PR China., Sun G; Lab of Beef Processing and Quality Control, College of Food Science and Engineering, Shandong Agricultural University, Tai'an, Shandong 271018, PR China; International Joint Research Lab (China and Greece) of Digital Transformation as an Enabler for Food Safety and Sustainability, Tai'an, Shandong 271018, PR China., Luo X; Lab of Beef Processing and Quality Control, College of Food Science and Engineering, Shandong Agricultural University, Tai'an, Shandong 271018, PR China; International Joint Research Lab (China and Greece) of Digital Transformation as an Enabler for Food Safety and Sustainability, Tai'an, Shandong 271018, PR China., Hopkins DL; Lab of Beef Processing and Quality Control, College of Food Science and Engineering, Shandong Agricultural University, Tai'an, Shandong 271018, PR China; Australian Capital Territory, Canberra 2903, Australia., Holman BWB; Wagga Wagga Agricultural Institute, NSW Department of Primary Industries, Wagga Wagga, New South Wales 2650, Australia., Zhang Y; Lab of Beef Processing and Quality Control, College of Food Science and Engineering, Shandong Agricultural University, Tai'an, Shandong 271018, PR China; International Joint Research Lab (China and Greece) of Digital Transformation as an Enabler for Food Safety and Sustainability, Tai'an, Shandong 271018, PR China. Electronic address: ymzhang@sdau.edu.cn., Song E; Institute of Animal Science and Veterinary Medicine, Shandong Academy of Agricultural Sciences, Ji'nan, Shandong 250100, PR China. Electronic address: enliangs@126.com.

المصدر: Meat science [Meat Sci] 2024 Sep; Vol. 215, pp. 109548. Date of Electronic Publication: 2024 May 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101160862 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4138 (Electronic) Linking ISSN: 03091740 NLM ISO Abbreviation: Meat Sci Subsets: MEDLINE

مواضيع طبية MeSH: Food Packaging*/methods , Oxygen* , Red Meat*/microbiology , Red Meat*/analysis , Food Storage* , Color* , Food Microbiology*, Cattle ; Animals ; Myoglobin ; Cold Temperature ; Oxidation-Reduction ; Bacteria

المؤلفون: Hou WC; Department of Chemistry, The Scripps Research Institute, La Jolla, CA 92122., Massey LA; Department of Chemistry, The Scripps Research Institute, La Jolla, CA 92122., Rhoades D; Department of Chemistry, The Scripps Research Institute, La Jolla, CA 92122., Wu Y; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92122., Ren W; Department of Chemistry, The Scripps Research Institute, La Jolla, CA 92122., Frank C; Department of Chemistry, The Scripps Research Institute, La Jolla, CA 92122., Overkleeft HS; Department of Bio-organic Synthesis, Leiden Institute of Chemistry, Leiden University, Leiden 2333 CC, The Netherlands., Kelly JW; Department of Chemistry, The Scripps Research Institute, La Jolla, CA 92122.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Aug 20; Vol. 121 (34), pp. e2320257121. Date of Electronic Publication: 2024 Aug 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Phosphatidylinositol 3-Kinases*/metabolism , Lysosomes*/metabolism , Lysosomes*/drug effects , Glucosylceramidase*/metabolism , Glucosylceramidase*/genetics , Fibroblasts*/metabolism , Fibroblasts*/drug effects , Lysosomal Storage Diseases*/drug therapy , Lysosomal Storage Diseases*/genetics , Lysosomal Storage Diseases*/metabolism, Humans ; Gaucher Disease/drug therapy ; Gaucher Disease/genetics ; Gaucher Disease/metabolism ; Phosphoinositide-3 Kinase Inhibitors/pharmacology

المؤلفون: Sun YB; Department of Clinical Pharmacy Administration, Tengzhou Maternal and Child Health Hospital,Tengzhou,Shandong 277599,China., Li CY; Department of Neonatology, Tengzhou Maternal and Child Health Hospital,Tengzhou,Shandong 277599,China., Chen M; Department of Clinical Pharmacy Administration, Tengzhou Maternal and Child Health Hospital,Tengzhou,Shandong 277599,China.

المصدر: Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae [Zhongguo Yi Xue Ke Xue Yuan Xue Bao] 2024 Aug; Vol. 46 (4), pp. 636-640.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Zhongguo yi xue ke xue yuan Country of Publication: China NLM ID: 8006230 Publication Model: Print Cited Medium: Print ISSN: 1000-503X (Print) Linking ISSN: 1000503X NLM ISO Abbreviation: Zhongguo Yi Xue Ke Xue Yuan Xue Bao Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease*/genetics , Glycogen Storage Disease*/diagnosis, Humans ; Male ; Infant, Newborn ; Child, Preschool ; Siblings ; Mutation

المؤلفون: Rossi A; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. alessandro.rossi@unina.it.; Department of Translational Medicine, Section of Pediatrics, University of Naples 'Federico II', Naples, Italy. alessandro.rossi@unina.it., Simeoli C; Dipartmento di Medicina Clinica e Chirurgia, Sezione di Endocrinologia, Diabetologia ed Andrologia, University of Naples 'Federico II', Naples, Italy., Pivonello R; Dipartmento di Medicina Clinica e Chirurgia, Sezione di Endocrinologia, Diabetologia ed Andrologia, University of Naples 'Federico II', Naples, Italy., Salerno M; Department of Translational Medicine, Section of Pediatrics, University of Naples 'Federico II', Naples, Italy., Rosano C; Department of Translational Medicine, Section of Pediatrics, University of Naples 'Federico II', Naples, Italy., Brunetti B; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Section of Pediatrics, University of Salerno, Baronissi, Italy., Strisciuglio P; Department of Translational Medicine, Section of Pediatrics, University of Naples 'Federico II', Naples, Italy., Colao A; Dipartmento di Medicina Clinica e Chirurgia, Sezione di Endocrinologia, Diabetologia ed Andrologia, University of Naples 'Federico II', Naples, Italy., Parenti G; Department of Translational Medicine, Section of Pediatrics, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Melis D; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Section of Pediatrics, University of Salerno, Baronissi, Italy., Derks TGJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

المصدر: Reviews in endocrine & metabolic disorders [Rev Endocr Metab Disord] 2024 Aug; Vol. 25 (4), pp. 707-725. Date of Electronic Publication: 2024 Apr 01.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 100940588 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2606 (Electronic) Linking ISSN: 13899155 NLM ISO Abbreviation: Rev Endocr Metab Disord Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease*/metabolism , Glycogen Storage Disease*/physiopathology, Humans ; Liver Diseases/metabolism ; Liver Diseases/physiopathology ; Liver Diseases/etiology ; Endocrine System Diseases/metabolism ; Endocrine System Diseases/physiopathology ; Liver/metabolism ; Liver/physiopathology

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

مواضيع طبية MeSH: Glycogen Storage Disease Type I*/complications , Glycogen Storage Disease Type I*/diagnosis , Glycoside Hydrolase Inhibitors*/therapeutic use, Humans ; Dipeptidyl-Peptidase IV Inhibitors/therapeutic use ; Male ; Blood Glucose/metabolism ; Female ; Hypoglycemic Agents/therapeutic use ; Adult ; Hyperglycemia/complications ; Hyperglycemia/diagnosis