المؤلفون: Ngoc CTB; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam.; Pediatric Department, Hanoi Medical University, Hanoi, Vietnam., Dung VC; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam., De Franco E; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom., Lan NN; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam., Thao BP; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam., Khanh NN; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam., Flanagan SE; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom., Craig ME; Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead/Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW, Australia.; School of Clinical Medicine, University of New South Wales Medicine and Health, Discipline of Paediatrics and Child Health, Sydney, NSW, Australia., Hoang NH; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam., Dien TM; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Apr 19; Vol. 13, pp. 866573. Date of Electronic Publication: 2022 Apr 19 (Print Publication: 2022).

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

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

مواضيع طبية MeSH: Diabetes Mellitus*/etiology , Diabetes Mellitus*/genetics , Diabetic Ketoacidosis* , Infant, Newborn, Diseases*/epidemiology , Infant, Newborn, Diseases*/genetics, Asian People ; Child ; Glycated Hemoglobin ; Humans ; Infant ; Infant, Newborn ; Insulin/genetics ; Mutation ; Vietnam/epidemiology

SCR Disease Name: Diabetes Mellitus, Permanent Neonatal

المؤلفون: Ngoc CTB; Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, Hanoi, Vietnam., Dien TM; Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, Hanoi, Vietnam., De Franco E; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom., Ellard S; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom.; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom., Houghton JAL; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom., Lan NN; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam., Thao BP; Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, Hanoi, Vietnam., Khanh NN; Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, Hanoi, Vietnam., Flanagan SE; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom., Craig ME; Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead/Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales Medicine, Sydney, NSW, Australia., Dung VC; Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, Hanoi, Vietnam.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Sep 09; Vol. 12, pp. 727083. Date of Electronic Publication: 2021 Sep 09 (Print Publication: 2021).

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

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

مواضيع طبية MeSH: Diabetes Mellitus*/drug therapy , Diabetes Mellitus*/genetics , Diabetes Mellitus*/pathology, Potassium Channels, Inwardly Rectifying/*genetics , Sulfonylurea Receptors/*genetics, Female ; Genetic Testing ; Hospitals, Pediatric ; Humans ; Hypoglycemic Agents/therapeutic use ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases/drug therapy ; Infant, Newborn, Diseases/genetics ; Infant, Newborn, Diseases/pathology ; KATP Channels/genetics ; Male ; Molecular Diagnostic Techniques ; Mutation ; Phenotype ; Prognosis ; Sulfonylurea Compounds/therapeutic use ; Treatment Outcome ; Vietnam

SCR Disease Name: Diabetes Mellitus, Permanent Neonatal

المؤلفون: Nguyen TH; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Hanoi, 100000, Vietnam.; Graduate University of Sciences and Technology, Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Hanoi, 100000, Vietnam., Nguyen NL; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Hanoi, 100000, Vietnam., Vu CD; Department of Medical Genetics, Metabolism and Endocrinology, Vietnam National Children's Hospital, 18/879 La Thanh, Dong Da, Hanoi, 100000, Vietnam., Ngoc CTB; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Hanoi, 100000, Vietnam., Nguyen NK; Department of Medical Genetics, Metabolism and Endocrinology, Vietnam National Children's Hospital, 18/879 La Thanh, Dong Da, Hanoi, 100000, Vietnam., Nguyen HH; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Hanoi, 100000, Vietnam. nhhoang@igr.ac.vn.; Graduate University of Sciences and Technology, Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Hanoi, 100000, Vietnam. nhhoang@igr.ac.vn.

المصدر: Genes & genomics [Genes Genomics] 2021 Feb; Vol. 43 (2), pp. 115-121. Date of Electronic Publication: 2021 Jan 18.

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

بيانات الدورية: Publisher: The Korean Society of Genetics Country of Publication: Korea (South) NLM ID: 101481027 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2092-9293 (Electronic) Linking ISSN: 19769571 NLM ISO Abbreviation: Genes Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Antigens/*genetics , Dwarfism/*genetics , Fetal Growth Retardation/*genetics , Microcephaly/*genetics , Osteochondrodysplasias/*genetics, Child ; Child, Preschool ; Dwarfism/pathology ; Fetal Growth Retardation/pathology ; Humans ; Male ; Microcephaly/pathology ; Mutation ; Osteochondrodysplasias/pathology ; Phenotype

SCR Disease Name: Microcephalic Osteodysplastic Primordial Dwarfism, Type II

المؤلفون: Nguyen NL; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam., Ngoc CTB; Center for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, 18/879 La Thanh str., Dong Da, Hanoi 100000, Vietnam., Vu CD; Center for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, 18/879 La Thanh str., Dong Da, Hanoi 100000, Vietnam., Nguyen TTH; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam., Nguyen HH; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.

المصدر: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2020 Sep 24; Vol. 10 (10). Date of Electronic Publication: 2020 Sep 24.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101658402 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4418 (Print) Linking ISSN: 20754418 NLM ISO Abbreviation: Diagnostics (Basel) Subsets: PubMed not MEDLINE

المؤلفون: Thanh DC; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam., Ngoc CTB; Center for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Hospital of Pediatrics, 18/879 La Thanh str., Dong Da, Hanoi 100000, Vietnam., Nguyen NL; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam., Vu CD; Center for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Hospital of Pediatrics, 18/879 La Thanh str., Dong Da, Hanoi 100000, Vietnam., Tung NV; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam., Nguyen HH; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.

المصدر: Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2020 Feb 14; Vol. 56 (2). Date of Electronic Publication: 2020 Feb 14.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 9425208 Publication Model: Electronic Cited Medium: Internet ISSN: 1648-9144 (Electronic) Linking ISSN: 1010660X NLM ISO Abbreviation: Medicina (Kaunas) Subsets: MEDLINE

مواضيع طبية MeSH: Cell Cycle Proteins/*genetics , De Lange Syndrome/*genetics, Cell Cycle Proteins/analysis ; De Lange Syndrome/epidemiology ; De Lange Syndrome/physiopathology ; Female ; Genetic Testing/methods ; Genetic Testing/statistics & numerical data ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Infant ; Male ; Mutation/genetics ; Vietnam/epidemiology

المؤلفون: Kubaski F; Department of Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware; Department of Biological Sciences, University of Delaware, Newark, Delaware; Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional, Porto Alegre, Brazil., Yabe H; Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan., Suzuki Y; Medical Education Development Center, Gifu University, Gifu, Japan., Seto T; Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan., Hamazaki T; Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan., Mason RW; Department of Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware; Department of Biological Sciences, University of Delaware, Newark, Delaware., Xie L; Department of Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Onsten TGH; Haemotherapy Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Leistner-Segal S; Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional, Porto Alegre, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Giugliani R; Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional, Porto Alegre, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Dũng VC; Vietnam National Children's Hospital, Department of Medical Genetics, Metabolism and Endocrinology, Hanoi, Vietnam., Ngoc CTB; Vietnam National Children's Hospital, Department of Medical Genetics, Metabolism and Endocrinology, Hanoi, Vietnam., Yamaguchi S; Department of Pediatrics, Shimane University, Shimane, Japan., Montaño AM; Department of Pediatrics, Saint Louis University, St. Louis, Missouri; Department of Biochemistry and Molecular Biology, Saint Louis University, St. Louis, Missouri., Orii KE; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Shintaku H; Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan., Orii T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Tomatsu S; Department of Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware; Department of Pediatrics, Shimane University, Shimane, Japan; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address: stomatsu@nemours.org.

المصدر: Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation [Biol Blood Marrow Transplant] 2017 Oct; Vol. 23 (10), pp. 1795-1803. Date of Electronic Publication: 2017 Jul 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Carden Jennings Publishing Country of Publication: United States NLM ID: 9600628 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-6536 (Electronic) Linking ISSN: 10838791 NLM ISO Abbreviation: Biol Blood Marrow Transplant Subsets: MEDLINE

مواضيع طبية MeSH: Enzyme Replacement Therapy/*methods , Hematopoietic Stem Cell Transplantation/*methods , Mucopolysaccharidosis II/*therapy, Adolescent ; Child ; Child, Preschool ; Glycosaminoglycans/blood ; Graft vs Host Disease ; Hematopoietic Stem Cell Transplantation/adverse effects ; Hematopoietic Stem Cell Transplantation/mortality ; Humans ; Magnetic Resonance Imaging ; Young Adult

المؤلفون: Flanagan SE; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Department of Molecular Genetics, Exeter, United Kingdom., Dũng VC, Houghton JAL, De Franco E, Ngoc CTB, Damhuis A, Ashcroft FM, Harries LW, Ellard S

المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2017 Sep 01; Vol. 9 (3), pp. 260-264. Date of Electronic Publication: 2017 Jun 30.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Hyperinsulinism/*genetics , Sulfonylurea Receptors/*genetics, Codon, Nonsense ; Humans ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases/genetics ; Male