المؤلفون: Yan X; Department of Orthodontics, The Affiliated Hospital of Qingdao University, Qingdao, China.; School of Stomatology, Qingdao University, Qingdao, China., Zhang Q; Department of Orthodontics, The Affiliated Hospital of Qingdao University, Qingdao, China.; School of Stomatology, Qingdao University, Qingdao, China., Zhang M; Department of Pathology, Qingdao Hospital, University of Health and Rehabilitation Sciences (Qingdao Municipal Hospital), Qingdao, China., He Z; Department of Orthodontics, The Affiliated Hospital of Qingdao University, Qingdao, China.; School of Stomatology, Qingdao University, Qingdao, China., Liu R; Department of Orthodontics, The Affiliated Hospital of Qingdao University, Qingdao, China., Liu J; Department of Orthodontics, The Affiliated Hospital of Qingdao University, Qingdao, China., Ren D; Department of Orthodontics, The Affiliated Hospital of Qingdao University, Qingdao, China.; School of Stomatology, Qingdao University, Qingdao, China., Zeng X; Department of Orthodontics, The Affiliated Hospital of Qingdao University, Qingdao, China.; School of Stomatology, Qingdao University, Qingdao, China., Lv T; Department of Orthodontics, School and Hospital of Stomatology, Cheeloo College of Medicine, Shandong University and Shandong Key Laboratory of Oral Tissue Regeneration and Shandong Engineering Laboratory for Dental Materials and Oral Tissue Regeneration and Shandong Provincial Clinical Research Center for Oral Diseases, Jinan, China., Yuan X; Department of Orthodontics, The Affiliated Hospital of Qingdao University, Qingdao, China.; School of Stomatology, Qingdao University, Qingdao, China.

المصدر: Journal of oral rehabilitation [J Oral Rehabil] 2024 Aug; Vol. 51 (8), pp. 1507-1520. Date of Electronic Publication: 2024 May 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 0433604 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2842 (Electronic) Linking ISSN: 0305182X NLM ISO Abbreviation: J Oral Rehabil Subsets: MEDLINE

مواضيع طبية MeSH: Bone Morphogenetic Protein Receptors, Type II*/metabolism , Bone Morphogenetic Protein Receptors, Type II*/genetics , Cell Differentiation*/physiology , Chondrogenesis*/physiology , Mesenchymal Stem Cells*/metabolism , MicroRNAs*/metabolism , MicroRNAs*/genetics , Signal Transduction*/physiology , Stress, Mechanical* , Synovial Membrane*/cytology , Synovial Membrane*/metabolism, Humans ; Aggrecans/metabolism ; Aggrecans/genetics ; Cells, Cultured ; Collagen Type II/metabolism ; Collagen Type II/genetics ; Smad Proteins/metabolism ; SOX9 Transcription Factor/metabolism ; SOX9 Transcription Factor/genetics

المؤلفون: Ma D; Department of Neurosurgery, The Second Affiliated Hospital of Harbin Medical University, Harbin, China., Ma L; Department of Neurosurgery, The Second Affiliated Hospital of Harbin Medical University, Harbin, China., Zhao Y; Department of Neurosurgery, The Second Affiliated Hospital of Harbin Medical University, Harbin, China., Li Y; Department of Neurosurgery, The Second Affiliated Hospital of Harbin Medical University, Harbin, China., Ye W; Department of Neurosurgery, The Second Affiliated Hospital of Harbin Medical University, Harbin, China., Li X; Department of Neurosurgery, The Second Affiliated Hospital of Harbin Medical University, Harbin, China.

المصدر: Journal of neurological surgery. Part A, Central European neurosurgery [J Neurol Surg A Cent Eur Neurosurg] 2024 Sep; Vol. 85 (5), pp. 457-463. Date of Electronic Publication: 2023 Aug 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Thieme Country of Publication: Germany NLM ID: 101580767 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2193-6323 (Electronic) Linking ISSN: 21936315 NLM ISO Abbreviation: J Neurol Surg A Cent Eur Neurosurg Subsets: MEDLINE

مواضيع طبية MeSH: Hydrocephalus*/etiology , Hydrocephalus*/cerebrospinal fluid , Biomarkers*/cerebrospinal fluid , Subarachnoid Hemorrhage*/complications , Subarachnoid Hemorrhage*/cerebrospinal fluid , Transforming Growth Factor beta*/cerebrospinal fluid , Receptor, Transforming Growth Factor-beta Type II*, Humans ; Female ; Male ; Middle Aged ; Aged ; Chronic Disease ; Smad Proteins/metabolism ; Glycoproteins/cerebrospinal fluid ; Adult ; Activin Receptors, Type I ; Receptors, Transforming Growth Factor beta ; Activin Receptors, Type II

المؤلفون: Jain L; Department of Pharmacology and Clinical Pharmacology, University of Auckland, Auckland, New Zealand. Electronic address: l.jain@auckland.ac.nz., Jardim CA; Department of Pharmacology and Clinical Pharmacology, University of Auckland, Auckland, New Zealand. Electronic address: cjar224@aucklanduni.ac.nz., Yulo R; Biomedical Imaging Research Unit, University of Auckland, Auckland, New Zealand. Electronic address: richard.yulo@auckland.ac.nz., Bolam SM; Department of Surgery, University of Auckland, Auckland, New Zealand; Department of Medicine, University of Auckland, Auckland, New Zealand. Electronic address: s.bolam@auckland.ac.nz., Monk AP; Auckland Bioengineering Institute, University of Auckland, Auckland, New Zealand. Electronic address: paul.monk@auckland.ac.nz., Munro JT; Department of Surgery, University of Auckland, Auckland, New Zealand. Electronic address: jacob.munro@auckland.ac.nz., Pitto R; Department of Surgery, University of Auckland, Auckland, New Zealand. Electronic address: r.pitto@auckland.ac.nz., Tamatea J; Te Kupenga Hauora Māori, University of Auckland, Auckland, New Zealand. Electronic address: j.tamatea@auckland.ac.nz., Dalbeth N; Department of Medicine, University of Auckland, Auckland, New Zealand. Electronic address: n.dalbeth@auckland.ac.nz., Poulsen RC; Department of Pharmacology and Clinical Pharmacology, University of Auckland, Auckland, New Zealand. Electronic address: r.poulsen@auckland.ac.nz.

المصدر: Osteoarthritis and cartilage [Osteoarthritis Cartilage] 2024 Sep; Vol. 32 (9), pp. 1084-1096. Date of Electronic Publication: 2023 Nov 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: W.B. Saunders For The Osteoarthritis Research Society Country of Publication: England NLM ID: 9305697 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-9653 (Electronic) Linking ISSN: 10634584 NLM ISO Abbreviation: Osteoarthritis Cartilage Subsets: MEDLINE

مواضيع طبية MeSH: Chondrocytes*/metabolism , Osteoarthritis, Knee*/metabolism , Osteoarthritis, Knee*/genetics , Osteoarthritis, Knee*/pathology , Energy Metabolism*/physiology , SOX9 Transcription Factor*/metabolism , SOX9 Transcription Factor*/genetics , Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha*/metabolism , Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha*/genetics , Phenotype* , Collagen Type II*/metabolism , Collagen Type II*/genetics, Humans ; Female ; Male ; Aged ; Middle Aged ; Sex Characteristics ; Glycolysis/physiology ; Sex Factors ; Oxidative Phosphorylation ; Aggrecans/metabolism ; Aggrecans/genetics

المؤلفون: Wang K; Engineering Research Center of Ministry of Education on Food Synthetic Biotechnology and School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China.; Science Center for Future Foods, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China., Yu S; Engineering Research Center of Ministry of Education on Food Synthetic Biotechnology and School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China.; Science Center for Future Foods, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China., Sun R; Engineering Research Center of Ministry of Education on Food Synthetic Biotechnology and School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China.; Science Center for Future Foods, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China., Xu K; Engineering Research Center of Ministry of Education on Food Synthetic Biotechnology and School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China.; Science Center for Future Foods, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China., Zhao X; Engineering Research Center of Ministry of Education on Food Synthetic Biotechnology and School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China.; Science Center for Future Foods, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China., Zhou J; Engineering Research Center of Ministry of Education on Food Synthetic Biotechnology and School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China.; Science Center for Future Foods, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China.; Jiangsu Province Engineering Research Center of Food Synthetic Biotechnology, Jiangnan University, Wuxi 214122, China., Rao Y; Engineering Research Center of Ministry of Education on Food Synthetic Biotechnology and School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China., Wang X; Engineering Research Center of Ministry of Education on Food Synthetic Biotechnology and School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China.; Science Center for Future Foods, Jiangnan University, 1800 Lihu Road, Wuxi, Jiangsu 214122, China.

المصدر: ACS synthetic biology [ACS Synth Biol] 2024 Aug 16; Vol. 13 (8), pp. 2567-2576. Date of Electronic Publication: 2024 Aug 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Chemical Society Country of Publication: United States NLM ID: 101575075 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2161-5063 (Electronic) Linking ISSN: 21615063 NLM ISO Abbreviation: ACS Synth Biol Subsets: MEDLINE

مواضيع طبية MeSH: Collagen Type II*/genetics , Collagen Type II*/metabolism, Humans ; Mice ; Animals ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism ; Recombinant Proteins/biosynthesis ; Fermentation ; Pichia/genetics ; Pichia/metabolism ; Cell Movement/genetics ; Fibroblasts/metabolism ; Cell Differentiation ; Bioreactors ; Saccharomycetales/genetics ; Saccharomycetales/metabolism ; Nanofibers/chemistry

SCR Organism: Komagataella pastoris

المؤلفون: Krasieva K; Center for Primary Care and Public Health (Unisanté), University of Lausanne, Switzerland (K.K., I.L., D.N.)., Gencer B; Service of Cardiology, Geneva University Hospital, Switzerland (B.G., D.C., F.M.).; Institute of Primary Health Care (BIHAM), University of Bern, Switzerland (B.G., N.R.).; Service of Cardiology, Lausanne University Hospital, Switzerland (B.G., O.M., S.F.)., Locatelli I; Center for Primary Care and Public Health (Unisanté), University of Lausanne, Switzerland (K.K., I.L., D.N.)., Carballo D; Service of Cardiology, Geneva University Hospital, Switzerland (B.G., D.C., F.M.)., Muller O; Service of Cardiology, Lausanne University Hospital, Switzerland (B.G., O.M., S.F.)., Fournier S; Service of Cardiology, Lausanne University Hospital, Switzerland (B.G., O.M., S.F.)., Matter CM; University Heart Center, Department of Cardiology, Zurich University Hospital, and Center of Translational and Experimental Cardiology, Department of Cardiology, Zurich University Hospital and University of Zurich, Switzerland (C.M.M.)., Räber L; Department of Cardiology, Inselspital, Bern University Hospital, University of Bern, Switzerland (L.R.)., Rodondi N; Institute of Primary Health Care (BIHAM), University of Bern, Switzerland (B.G., N.R.).; Department of General Internal Medicine, Inselspital, Bern University Hospital, Switzerland (N.R.)., Mach F; Service of Cardiology, Geneva University Hospital, Switzerland (B.G., D.C., F.M.)., Nanchen D; Center for Primary Care and Public Health (Unisanté), University of Lausanne, Switzerland (K.K., I.L., D.N.).

المصدر: Circulation. Cardiovascular quality and outcomes [Circ Cardiovasc Qual Outcomes] 2024 Aug; Vol. 17 (8), pp. e010790. Date of Electronic Publication: 2024 Jun 20.

نوع المنشور: Journal Article; Multicenter Study; Comparative Study; Observational Study

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101489148 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1941-7705 (Electronic) Linking ISSN: 19417713 NLM ISO Abbreviation: Circ Cardiovasc Qual Outcomes Subsets: MEDLINE

مواضيع طبية MeSH: Acute Coronary Syndrome*/diagnosis , Acute Coronary Syndrome*/epidemiology , Acute Coronary Syndrome*/therapy , Acute Coronary Syndrome*/blood , Hyperlipoproteinemia Type II*/diagnosis , Hyperlipoproteinemia Type II*/blood , Hyperlipoproteinemia Type II*/drug therapy , Hyperlipoproteinemia Type II*/epidemiology , Hyperlipoproteinemia Type II*/complications , Cholesterol, LDL*/blood , Biomarkers*/blood , Heart Disease Risk Factors* , Hydroxymethylglutaryl-CoA Reductase Inhibitors*/therapeutic use, Humans ; Male ; Female ; Middle Aged ; Sex Factors ; Aged ; Time Factors ; Prospective Studies ; Treatment Outcome ; Switzerland/epidemiology ; Risk Assessment ; Recurrence ; Healthcare Disparities ; Secondary Prevention ; Health Status Disparities

المؤلفون: Zhou LL; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China., Shao YQ; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China., Xia P; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China., Wu XQ; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China., Chen QY; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China., Xu QL; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China.

المصدر: Zhonghua nei ke za zhi [Zhonghua Nei Ke Za Zhi] 2024 Sep 01; Vol. 63 (9), pp. 886-888.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Zhonghua yi xue hui Country of Publication: China NLM ID: 16210490R Publication Model: Print Cited Medium: Print ISSN: 0578-1426 (Print) Linking ISSN: 05781426 NLM ISO Abbreviation: Zhonghua Nei Ke Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type II*/diagnosis , Glycogen Storage Disease Type II*/therapy , Enzyme Replacement Therapy*/methods, Humans ; Female ; alpha-Glucosidases/therapeutic use ; alpha-Glucosidases/genetics ; Mutation

المؤلفون: Elbermawi A; Department of Pharmacognosy, Faculty of Pharmacy, Mansoura University, 35516 Mansoura, Egypt; National Center for Natural Products Research, School of Pharmacy, University of Mississippi, University, MS 38677, USA. Electronic address: asbeder@mans.edu.eg., Zulfiqar F; National Center for Natural Products Research, School of Pharmacy, University of Mississippi, University, MS 38677, USA., Khan SI; National Center for Natural Products Research, School of Pharmacy, University of Mississippi, University, MS 38677, USA., Khan IA; National Center for Natural Products Research, School of Pharmacy, University of Mississippi, University, MS 38677, USA., Ali Z; National Center for Natural Products Research, School of Pharmacy, University of Mississippi, University, MS 38677, USA. Electronic address: zulfiqar@olemiss.edu.

المصدر: Fitoterapia [Fitoterapia] 2024 Sep; Vol. 177, pp. 106106. Date of Electronic Publication: 2024 Jun 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 16930290R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-6971 (Electronic) Linking ISSN: 0367326X NLM ISO Abbreviation: Fitoterapia Subsets: MEDLINE

مواضيع طبية MeSH: Anti-Inflammatory Agents*/pharmacology , Anti-Inflammatory Agents*/isolation & purification , Phytochemicals*/pharmacology , Phytochemicals*/isolation & purification , Plant Roots*/chemistry , Nitric Oxide Synthase Type II*/antagonists & inhibitors , Nitric Oxide Synthase Type II*/metabolism , Nitric Oxide*/metabolism , Macrophages*/drug effects , Plant Extracts*/pharmacology , Plant Extracts*/chemistry, RAW 264.7 Cells ; Mice ; Animals ; Molecular Structure ; Lactones/pharmacology ; Lactones/isolation & purification ; Sesquiterpenes/pharmacology ; Sesquiterpenes/isolation & purification ; Phenols/pharmacology ; Phenols/isolation & purification ; Glucosides/pharmacology ; Glucosides/isolation & purification ; Sesquiterpenes, Guaiane/pharmacology ; Sesquiterpenes, Guaiane/isolation & purification

المؤلفون: Deng L; Department of Pharmacology, Joint Laboratory of Guangdong-Hong Kong Universities for Vascular Homeostasis and Diseases, School of Medicine, Southern University of Science and Technology, Shenzhen, China.; Department of Cardiology, The Eighth Affiliated Hospital, Sun Yat-sen University, Shenzhen, China., Cao C; Department of Pharmacology, Joint Laboratory of Guangdong-Hong Kong Universities for Vascular Homeostasis and Diseases, School of Medicine, Southern University of Science and Technology, Shenzhen, China., Cai Z; Department of Cardiology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China., Wang Z; Department of Pharmacology, Joint Laboratory of Guangdong-Hong Kong Universities for Vascular Homeostasis and Diseases, School of Medicine, Southern University of Science and Technology, Shenzhen, China., Leng B; Department of Food Science and Technology, National University of Singapore, Singapore.; National University of Singapore (Suzhou) Research Institute, Suzhou, China; and., Chen Z; Department of Pharmacology, Joint Laboratory of Guangdong-Hong Kong Universities for Vascular Homeostasis and Diseases, School of Medicine, Southern University of Science and Technology, Shenzhen, China., Kong F; Department of Pharmacology, Joint Laboratory of Guangdong-Hong Kong Universities for Vascular Homeostasis and Diseases, School of Medicine, Southern University of Science and Technology, Shenzhen, China., Zhou Z; Department of Pharmacology, Joint Laboratory of Guangdong-Hong Kong Universities for Vascular Homeostasis and Diseases, School of Medicine, Southern University of Science and Technology, Shenzhen, China., He J; Department of Pharmacology, Joint Laboratory of Guangdong-Hong Kong Universities for Vascular Homeostasis and Diseases, School of Medicine, Southern University of Science and Technology, Shenzhen, China., Nie X; Shenzhen Key Laboratory of Respiratory Diseases, Shenzhen People's Hospital (The First Affiliated Hospital, Southern University of Science and Technology), Shenzhen, China., Bian JS; Department of Pharmacology, Joint Laboratory of Guangdong-Hong Kong Universities for Vascular Homeostasis and Diseases, School of Medicine, Southern University of Science and Technology, Shenzhen, China.

المصدر: American journal of respiratory cell and molecular biology [Am J Respir Cell Mol Biol] 2024 Sep; Vol. 71 (3), pp. 356-371.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Thoracic Society Country of Publication: United States NLM ID: 8917225 Publication Model: Print Cited Medium: Internet ISSN: 1535-4989 (Electronic) Linking ISSN: 10441549 NLM ISO Abbreviation: Am J Respir Cell Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Bone Morphogenetic Protein Receptors, Type II*/metabolism , Bone Morphogenetic Protein Receptors, Type II*/genetics , Hypertension, Pulmonary*/metabolism , Hypertension, Pulmonary*/pathology , Membrane Proteins*/metabolism , Membrane Proteins*/genetics , Signal Transduction*, Animals ; Humans ; Mice ; Endothelial Cells/metabolism ; Endothelial Cells/pathology ; Male ; Pulmonary Artery/metabolism ; Pulmonary Artery/pathology ; Mice, Inbred C57BL ; Disease Models, Animal ; Mice, Knockout ; Cell Proliferation ; Rats ; Hypoxia/metabolism

المؤلفون: Volke L; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Daya NM; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Döring K; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany., Rohm M; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Athamneh M; Department of Clinical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan., Zaehres H; Department of Anatomy and Molecular Embryology, Institute of Anatomy, Ruhr-University Bochum, 44801 Bochum, Germany., Roos A; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Güttsches AK; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Mavrommatis L; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Vorgerd M; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.

المصدر: Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103459. Date of Electronic Publication: 2024 Jun 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type II*/pathology , Glycogen Storage Disease Type II*/metabolism , Kruppel-Like Factor 4* , Induced Pluripotent Stem Cells*/metabolism, Humans ; Cell Differentiation ; Cell Line ; Male ; Infant ; Mutation ; Female

المؤلفون: Küçükcongar Yavaş A; Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkey.; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey., Basan H; Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkey.; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey., Dinçer S; Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkey.; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey., Bilginer Gürbüz B; Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkey.; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey., Kasapkara ÇS; Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkey.; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63643. Date of Electronic Publication: 2024 Apr 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type II*/genetics , Glycogen Storage Disease Type II*/diagnosis , Glycogen Storage Disease Type II*/pathology , Phosphate Transport Proteins*/genetics , Mitochondria*/genetics , Mitochondria*/metabolism , Mitochondria*/pathology, Humans ; Infant ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/pathology ; Mutation/genetics ; Diagnosis, Differential ; Male ; Female ; Phosphates/blood ; Phosphates/metabolism ; Acidosis, Lactic/genetics ; Acidosis, Lactic/diagnosis