المؤلفون: Kubaski F; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Biological Sciences, University of Delaware, Newark, DE, United States; INAGEMP, Porto Alegre, Brazil., Suzuki Y; Medical Education Development Center, Gifu University, Japan., Orii K; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Giugliani R; INAGEMP, Porto Alegre, Brazil; Medical Genetics Service, HCPA, Porto Alegre, Brazil; Department of Genetics, UFRGS, Porto Alegre, Brazil., Church HJ; Willink Biochemical Genetics Unit, Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust St Mary's Hospital, Manchester, UK., Mason RW; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Biological Sciences, University of Delaware, Newark, DE, United States., Dũng VC; Vietnam National Children's Hospital, Department of Medical Genetics, Metabolism & Endocrinology, Hanoi, Vietnam., Ngoc CT; Vietnam National Children's Hospital, Department of Medical Genetics, Metabolism & Endocrinology, Hanoi, Vietnam., Yamaguchi S; Department of Pediatrics, Shimane University, Shimane, Japan., Kobayashi H; Department of Pediatrics, Shimane University, Shimane, Japan., Girisha KM; Department of Medical Genetics, Kasturba Medical College Manipal, Manipal University, India., Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Orii T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Tomatsu S; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. Electronic address: stomatsu@nemours.org.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2017 Mar; Vol. 120 (3), pp. 247-254. Date of Electronic Publication: 2016 Dec 22.

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

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

مواضيع طبية MeSH: Dried Blood Spot Testing/*methods , Glycosaminoglycans/*blood , Mucolipidoses/*diagnosis , Mucopolysaccharidoses/*diagnosis, Adolescent ; Adult ; Age Factors ; Child ; Child, Preschool ; Chromatography, Liquid ; Dermatan Sulfate/blood ; Female ; Heparitin Sulfate/blood ; Humans ; Infant ; Infant, Newborn ; Keratan Sulfate/blood ; Male ; Mucolipidoses/metabolism ; Mucopolysaccharidoses/metabolism ; Sensitivity and Specificity ; Tandem Mass Spectrometry ; Young Adult

المؤلفون: Binh HD; Hue University of Medicine and Pharmacy, Hue University, 06 ngo Quyen, Hue, 530000, Vietnam. binhthuybi@yahoo.com.; Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia. binhthuybi@yahoo.com.; Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Puusepa 8, 51014, Tartu, Estonia. binhthuybi@yahoo.com., Maasalu K; Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia.; Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Puusepa 8, 51014, Tartu, Estonia., Dung VC; National Hospital of Pediatrics, 18/879 La Thanh, Dong Da, 100000, Hanoi, Vietnam., Ngoc CT; National Hospital of Pediatrics, 18/879 La Thanh, Dong Da, 100000, Hanoi, Vietnam., Hung TT; OI Booming Diamond Center, 303/38 Ha Huy Giap, 12th District, 700000, Ho Chi Minh City, Vietnam., Nam TV; Traditional Medicine Institute, 273 Nguyen Van Troi, Phu Nhuan, 700000, Ho Chi Minh City, Vietnam., Nhan LN; Hue University of Medicine and Pharmacy, Hue University, 06 ngo Quyen, Hue, 530000, Vietnam., Prans E; Pathophysiology Department, University of Tartu, Ravila 19, Tartu, 50411, Estonia., Reimann E; Pathophysiology Department, University of Tartu, Ravila 19, Tartu, 50411, Estonia., Zhytnik L; Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia., Kõks S; Pathophysiology Department, University of Tartu, Ravila 19, Tartu, 50411, Estonia., Märtson A; Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia.; Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Puusepa 8, 51014, Tartu, Estonia.

المصدر: International orthopaedics [Int Orthop] 2017 Jan; Vol. 41 (1), pp. 21-29. Date of Electronic Publication: 2016 Nov 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7705431 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-5195 (Electronic) Linking ISSN: 03412695 NLM ISO Abbreviation: Int Orthop Subsets: MEDLINE

مواضيع طبية MeSH: Osteogenesis Imperfecta/*diagnosis, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Fractures, Bone/etiology ; Humans ; Infant ; Male ; Middle Aged ; Osteogenesis Imperfecta/complications ; Osteogenesis Imperfecta/epidemiology ; Prevalence ; Quality of Life ; Vietnam ; Young Adult

المؤلفون: Boonen SE; Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark. susaboon@rm.dk, Mackay DJ, Hahnemann JM, Docherty L, Grønskov K, Lehmann A, Larsen LG, Haemers AP, Kockaerts Y, Dooms L, Vu DC, Ngoc CT, Nguyen PB, Kordonouri O, Sundberg F, Dayanikli P, Puthi V, Acerini C, Massoud AF, Tümer Z, Temple IK

المصدر: Diabetes care [Diabetes Care] 2013 Mar; Vol. 36 (3), pp. 505-12. Date of Electronic Publication: 2012 Nov 12.

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

بيانات الدورية: Publisher: American Diabetes Association Country of Publication: United States NLM ID: 7805975 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1935-5548 (Electronic) Linking ISSN: 01495992 NLM ISO Abbreviation: Diabetes Care Subsets: MEDLINE

مواضيع طبية MeSH: DNA Methylation/*genetics , Diabetes Mellitus, Type 1/*genetics , Genomic Imprinting/*genetics, Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases ; Phenotype

المؤلفون: Hue KD; Oxford University Clinical Research Unit, Hospital for Tropical Diseases, 190 Ben Ham Tu, Quan 5, Ho Chi Minh City, Viet Nam. kiendth@oucru.org, Tuan TV, Thi HT, Bich CT, Anh HH, Wills BA, Simmons CP

المصدر: Journal of virological methods [J Virol Methods] 2011 Nov; Vol. 177 (2), pp. 168-73. Date of Electronic Publication: 2011 Aug 05.

نوع المنشور: Journal Article; Validation Study

بيانات الدورية: Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Netherlands NLM ID: 8005839 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0984 (Electronic) Linking ISSN: 01660934 NLM ISO Abbreviation: J Virol Methods Subsets: MEDLINE

مواضيع طبية MeSH: Dengue/*diagnosis , Dengue Virus/*genetics , Multiplex Polymerase Chain Reaction/*methods , RNA, Viral/*blood , Reverse Transcriptase Polymerase Chain Reaction/*methods, Dengue/virology ; Equartevirus/genetics ; Humans ; Limit of Detection ; Microbiological Techniques ; Plasmids/genetics ; Plasmids/metabolism ; Reproducibility of Results ; Sensitivity and Specificity ; Viral Nonstructural Proteins/genetics