부산대학교 도서관

Mokhtarani, M; Diaz, GA; Rhead, W; Lichter-Konecki, U; Bartley, J; Feigenbaum, A; Longo, N; Berquist, W; Berry, SA; Gallagher, R; Bartholomew, D; Harding, CO; Korson, MS; McCandless, SE; Smith, W; Vockley, J; Bart, S; Kronn, D; Zori, R; Cederbaum, S; Dorrani, N; Merritt, JL; Sreenath-Nagamani, Sandesh; Summar, M; LeMons, C; Dickinson, K; Coakley, DF; Moors, TL; Lee, B; Scharschmidt, BF

Molecular Genetics and Metabolism. 107(3)

Kishnani, Priya S; Gibson, James B; Gambello, Michael J; Hillman, Richard; Stockton, David W; Kronn, David; Leslie, Nancy D; Pena, Loren DM; Tanpaiboon, Pranoot; Day, John W; Wang, Raymond Y; Goldstein, Jennifer L; An Haack, Kristina; Sparks, Susan E; Zhao, Yang; Hahn, Si Houn

Genetics in Medicine. 21(11)

Mofidi, S.; Garizio, G. S.; Taska-Tench, H. G.; Kronn, D. F.

MOLECULAR GENETICS AND METABOLISM; APR 2024, 141 p21-p21, 1p. Supplement: 1

Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. priya.kishnani@duke.edu.; Kronn D; Department of Pathology and Pediatrics, New York Medical College, Valhalla, NY, USA.; Suwazono S; Center for Clinical Neuroscience, National Hospital Organization Okinawa National Hospital, Ginowan, Japan.; Broomfield A; Willink Biochemical Genetics Unit, Manchester Center for Genomic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK.; Llerena J; Centro de Genética Médica, Instituto Fernandes Figueira/FIOCRUZ, Rio de Janeiro, Brazil.; Al-Hassnan ZN; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Batista JL; Sanofi, Cambridge, MA, USA.; Wilson KM; Navitas Data Sciences, Pottstown, PA, USA.; Periquet M; Sanofi, Berlin, Germany.; Daba N; Sanofi, Dubai, United Arab Emirates.; Hahn A; Department of Child Neurology, University Hospital Giessen, Giessen, Germany.; Chien YH; Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.

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

Conte, F.; Morava, E.; Abu Bakar, N.; Wortmann, S.B.; Poerink, A.J.; Grunewald, S.; Crushell, E.; Al-Gazali, L.; Vries, M.C. de; MØrkrid, L.; Hertecant, J.; Holmefjord, K.S.B.; Kronn, D.; Feigenbaum, A.; Fingerhut, R.; Wong, S.Y.W.; Scherpenzeel, M. van; Voermans, N.C.; Lefeber, D.J.

Molecular Genetics and Metabolism; 135; 146; 1096-7192; 1-2; 131; ~Molecular Genetics and Metabolism~135~146~~~1096-7192~1-2~131~~

Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC. Electronic address: priya.kishnani@duke.edu.; Kronn D; Departments of Pathology and Pediatrics, New York Medical College, Valhalla, NY.; Brassier A; Reference Center of Inherited Metabolic Diseases, Imagine Institute, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.; Broomfield A; Willink Biochemical Genetics Unit, Manchester Center for Genomic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, United Kingdom.; Davison J; Great Ormond Street Hospital NHS Foundation Trust, London, UK and National Institute of Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Hahn SH; Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, WA.; Kumada S; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.; Labarthe F; Pediatrics Department, Center for Inborn Errors of Metabolism ToTeM, CHU Tours, and N2C, INSERM U1069, Tours University, Tours, France.; Ohki H; Department of Cardiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.; Pichard S; Reference Center of Inherited Metabolic Diseases, Imagine Institute, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.; Prakalapakorn SG; Departments of Ophthalmology and Pediatrics, Duke University, Durham, NC.; Haack KA; Sanofi, Chilly-Mazarin, France.; Kittner B; Sanofi, Bridgewater, NJ.; Meng X; Sanofi, Bridgewater, NJ.; Sparks S; Sanofi, Cambridge, MA.; Wilson C; Sanofi, Cambridge, MA.; Zaher A; Sanofi, Laval, Canada.; Chien YH; Departments of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Day, J.; Duong, T.; Hahn, S.; Kronn, D.; Leslie, N.; Pena, L.; Tanpaiboon, P.; Gambello, M.; Gibson, J.; Hillman, R.; Stockton, D.; Wang, R.; An Haack, K.; Shafi, R.; Sparks, S.; Zhao, Y.; Wilson, C.; Kishnani, P.

ANNALS OF NEUROLOGY; OCT 2017, 82 pS325-pS327, 3p. Supplement: 21

Kronn, D; Ross, L; Sexton, M; Stern, L; Marrero-Stein, V; Mofidi, S; Hommes, F; Bacon, A

Journal of Inherited Metabolic Disease. Jul 01, 2000 23 Suppl 1:283-283

Byrne BJ; Department of Pediatrics, College of Medicine, Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.; Colan SD; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.; Kishnani PS; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Foster MC; Biostatistics, Rare Diseases, Sanofi Genzyme, Cambridge, MA, USA.; Sparks SE; Biostatistics, Rare Diseases, Sanofi Genzyme, Cambridge, MA, USA.; Gibson JB; Department of Clinical and Metabolic Genetics, Clinical and Metabolic Genetics, Dell Children's Medical Group, Austin, TX, USA.; An Haack K; Rare Diseases, Sanofi Genzyme, Shanghai, China.; Stockton DW; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Central Michigan University, Children's Hospital of Michigan, Detroit, MI, USA.; Peña LDM; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati, College of Medicine, Cincinnati, OH, USA.; Hahn SH; Departments of Pediatrics and Medicine, Biochemical Genetics Program, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.; Johnson J; Biostatistics, Rare Diseases, Sanofi Genzyme, Cambridge, MA, USA.; Tanpaiboon PX; Department of Genetics, Children's National Hospital, Washington, DC, USA.; Leslie ND; Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Kronn D; Departments of Pathology and Pediatrics, New York Medical College, Valhalla, NY, USA.; Hillman RE; Department of Pediatrics, University of Missouri Child Health, Columbia, MO, USA.; Wang RY; Department of Pediatrics, Foundation of Caring Multidisciplinary Lysosomal Storage Disease Program, Children's Hospital of Orange County, Orange, CA, USA.; Department of Pediatrics, University of California, Irvine School of Medicine, Orange, CA, USA.

Publisher: Cambridge University Press Country of Publication: England NLM ID: 9200019 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1467-1107 (Electronic) Linking ISSN: 10479511 NLM ISO Abbreviation: Cardiol Young Subsets: MEDLINE

Duong T; Department of Neurology, Division of Neuromuscular Medicine, Stanford University School of Medicine, Palo Alto, CA, USA.; Kishnani PS; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; An Haack K; Sanofi, Chilly-Mazarin, France.; Foster MC; Sanofi, Cambridge, MA, USA.; Gibson JB; Clinical and Metabolic Genetics, Dell Children's Medical Group, Austin, TX, USA.; Wilson C; Sanofi, Cambridge, MA, USA.; Hahn SH; Departments of Pediatrics and Medicine and Biochemical Genetics Program, Seattle Children's Hospital/University of Washington, Seattle, WA, USA.; Hillman R; University of Missouri Child Health, Columbia, MO, USA.; Kronn D; Departments of Pathology and Pediatrics, New York Medical College, Valhalla, NY, USA.; Leslie ND; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Peña LDM; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Current address: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Current address: University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Sparks SE; Sanofi, Cambridge, MA, USA.; Stockton DW; Division of Genetic, Genomic, and Metabolic Disorders, Central Michigan University and Children's Hospital of Michigan, Detroit, MI, USA.; Tanpaiboon P; Rare Disease Institute, Children's National Hospital, Washington, DC, USA.; Current address: Division of Medical Genetics, Child Health Research Center, Torrance, CA, USA.; Day JW; Department of Neurology, Division of Neuromuscular Medicine, Stanford University School of Medicine, Palo Alto, CA, USA.

Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE