부산대학교 도서관

Goker-Alpan O; Longo N; McDonald M; Shankar SP; Schiffmann R; Chang P; Shen Y; Pano A

Drug Design, Development and Therapy, Vol 2016, Iss Issue 1, Pp 1771-1781 (2016)

Goláň L; Goker-Alpan O; Holida M; Kantola I; Klopotowski M; Kuusisto J; Linhart A; Musial J; Nicholls K; Gonzalez-Rodriguez D; Sharma R; Vujkovac B; Chang P; Wijatyk A

Drug Design, Development and Therapy, Vol 2015, Iss default, Pp 3435-3444 (2015)

Wallace EL; Department of Medicine, Division of Nephrology, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Goker-Alpan O; Lysosomal and Rare Disorders Research and Treatment Center, Inc, Fairfax, Virginia, USA.; Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.; Holida M; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Bernat J; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Longo N; Department of Pediatrics, Division of Medical Genetics, University of Utah Health, Salt Lake City, Utah, USA.; Linhart A; Department of Internal Medicine, School of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Hughes DA; Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, UK.; Hopkin RJ; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Tøndel C; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.; Langeveld M; Academisch Medisch Centrum Universiteit van Amsterdam, Amsterdam, The Netherlands.; Giraldo P; Unidad de Investigación Traslacional. Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón (IIS Aragón), Zaragoza, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII), Zaragoza, Spain.; Pisani A; Department of Public Health, Universita degli Studi di Napoli Federico II, Napoli, Italy.; Germain DP; Division of Medical Genetics, University of Versailles, Garches, France.; Mehta A; Baylor University Medical Center at Dallas, Dallas, Texas, USA.; Deegan PB; Lysosmal Disorders Unit, Department of Medicine, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University Clinical Center, Budapest, Hungary.; Ortiz D; Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Jovanovic A; Mark Holland Metabolic Unit, Northern Care Alliance NHS Foundation Trust, Greater Manchester, UK.; Muriello M; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Barshop BA; Department of Pediatrics, University of California San Diego, La Jolla, California, USA.; Kimonis V; Department of Pediatrics, University of California Irvine, Irvine, California, USA.; Vujkovac B; Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia.; Nowak A; Department of Endocrinology and Clinical Nutrition, University Hospital Zurich and University of Zurich, Zurich, Switzerland.; Geberhiwot T; Department of Diabetes, Endocrinology and Metabolism, Queen Elizabeth Hospital Birmingham, Birmingham, UK.; Kantola I; Division of Medicine, Turku University Hospital, Turku, Finland.; Knoll J; Phoenix Children's Hospital, Phoenix, Arizona, USA.; Waldek S; University of Sunderland, Sunderland, UK.; Nedd K; Infusion Associates, Grand Rapids, Michigan, USA.; Karaa A; Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; Brill-Almon E; Protalix Biotherapeutics, Carmiel, Israel.; Alon S; Product Development, Protalix Biotherapeutics, Carmiel, Israel.; Chertkoff R; Protalix Biotherapeutics, Carmiel, Israel.; Rocco R; Chiesi Farmaceutici SpA, Parma, Italy.; Sakov A; DataSights, Haifa, Israel.; Warnock DG; Department of Medicine, Division of Nephrology, The University of Alabama at Birmingham, Birmingham, Alabama, USA dwarnock@uab.edu.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Goker-Alpan O; Lysosomal and Rare Disorder Research and Treatment Center, Fairfax, Virginia, USA.; Ivanova MM; Lysosomal and Rare Disorder Research and Treatment Center, Fairfax, Virginia, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Ivanova MM; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA.; Dao J; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA.; Loynab N; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA.; Noor S; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA.; Kasaci N; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA.; Friedman A; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA.; Goker-Alpan O; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

Byrne BJ; University of Florida, Gainesville, FL, USA. barry.byrne@ufl.edu.; Schoser B; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany.; Kishnani PS; Duke University Medical Center, Durham, NC, USA.; Bratkovic D; PARC Research Clinic, Royal Adelaide Hospital, Adelaide, SA, Australia.; Clemens PR; Department of Neurology, University of Pittsburgh School of Medicine and VA Pittsburgh Healthcare System, Pittsburgh, PA, USA.; Goker-Alpan O; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA, USA.; Ming X; Neurology, Rutgers New Jersey Medical School, Newark, NJ, USA.; Guam Regional Medical City, Dededo, Guam.; Roberts M; Salford Royal NHS Foundation Trust, Salford, UK.; Vorgerd M; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, Bochum, Germany.; Sivakumar K; Neuromuscular Clinic and Research Center, Phoenix, AZ, USA.; van der Ploeg AT; Erasmus MC University Medical Center, Rotterdam, Netherlands.; Goldman M; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Wright J; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Holdbrook F; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Jain V; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Benjamin ER; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Johnson F; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Das SS; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Wasfi Y; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Mozaffar T; University of California, Irvine, Irvine, CA, USA.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Hughes D; LSDU, Royal Free London NHS Foundation Trust and University College London, London, United Kingdom. Electronic address: derralynnhughes@nhs.net.; Gonzalez D; Department of Haematology, Instituto Privado de Hematologia e Investigación Clínica, Asunción, Paraguay.; Maegawa G; Department of Pediatrics, New York-Presbyterian Morgan Stanley Children's Hospital, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY.; Bernat JA; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA.; Holida M; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA.; Giraldo P; Centro de Investigación Biomédica en Red de Enfermedades Raras, Hospital de Dia Quiron, Zaragoza, Spain.; Atta MG; Division of Nephrology, Johns Hopkins School of Medicine, Baltimore, MD.; Chertkoff R; Department of Product Development, Protalix Biotherapeutics, Carmiel, Israel.; Alon S; Department of Product Development, Protalix Biotherapeutics, Carmiel, Israel.; Almon EB; Department of Product Development, Protalix Biotherapeutics, Carmiel, Israel.; Rocco R; Chiesi Farmaceutici S.p.A., Parma, Italy.; Goker-Alpan O; Lysosomal & Rare Disorders Research & Treatment Center, Fairfax, VA.

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

Auray-Blais C; Division of Medical Genetics, Department of Pediatrics, Centre de Recherche-CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada.; Lavoie P; Division of Medical Genetics, Department of Pediatrics, Centre de Recherche-CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada.; Martineau T; Division of Medical Genetics, Department of Pediatrics, Centre de Recherche-CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada.; Ntumba GK; Division of Medical Genetics, Department of Pediatrics, Centre de Recherche-CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada.; Gamrani M; Division of Medical Genetics, Department of Pediatrics, Centre de Recherche-CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada.; Khan A; M.A.G.I.C. (Metabolics and Genetics in Canada) Clinic Ltd, Calgary, Alberta, Canada.; Altarescu G; Shaare Zedek Medical Center, Shmuel (Hans) Beyth St 12, Jerusalem, 9103102, Israel.; Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver General Hospital, 899 W 12th Ave., Vancouver, BC V5Z 1M9, Canada.; Goker-Alpan O; Lysosomal & Rare Disorders Research & Treatment Center-LDRTC, 3702 Pender Dr. STE 170, Fairfax, VA 22030, USA.; Nowak A; Department of Endocrinology & Clinical Nutrition, University Hospital Zurich & University of Zurich, Rämistrasse 100, 8091, Zurich, Switzerland.; West ML; Division of Nephrology, Department of Medicine, Dalhousie University, QE II Health Sciences Centre, 1276 South Park Street, Halifax, NS B3H 2Y9, Canada.; Bichet DG; University of Montreal & Nephrology Service, Research Center, Hôpital du Sacré-Coeur de Montreal, 5400 Boul. Gouin O, Montreal, QC, H4J 1C5, Canada.

Publisher: Future Science Country of Publication: England NLM ID: 101512484 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-6199 (Electronic) Linking ISSN: 17576180 NLM ISO Abbreviation: Bioanalysis Subsets: MEDLINE

Hruska KS; Goker-Alpan O; Sidransky E

Journal of Biomedicine & Biotechnology. 2006 Special Issue 2, p1-6. 6p.

Banerjee D; Engineering Science and Mechanics Department, Penn State University, University Park, PA, United States of America.; Department of Medicine, Division of Cardiology, University of California, San Diego, La Jolla, CA, United States of America.; Ivanova MM; Lysosomal & Rare Disorders Research & Treatment Center-LDRTC, Fairfax, VA, United States of America.; Celik N; Engineering Science and Mechanics Department, Penn State University, University Park, PA, United States of America.; Kim MH; Department of Biomedical Engineering, Pennsylvania State University, University Park, PA, United States of America.; Derman ID; Engineering Science and Mechanics Department, Penn State University, University Park, PA, United States of America.; Limgala RP; Lysosomal & Rare Disorders Research & Treatment Center-LDRTC, Fairfax, VA, United States of America.; Ozbolat IT; Engineering Science and Mechanics Department, Penn State University, University Park, PA, United States of America.; Department of Biomedical Engineering, Pennsylvania State University, University Park, PA, United States of America.; The Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, PA, United States of America.; Materials Research Institute, Pennsylvania State University, University Park, PA, United States of America.; Department of Neurosurgery, Pennsylvania State College of Medicine, Hershey, PA, United States of America.; Medical Oncology, Cukurova University, Adana, Turkey.; Biotechnology Research and Application Center, Cukurova University, Adana, Turkey.; Goker-Alpan O; Lysosomal & Rare Disorders Research & Treatment Center-LDRTC, Fairfax, VA, United States of America.

Publisher: IOP Pub Country of Publication: England NLM ID: 101521964 Publication Model: Electronic Cited Medium: Internet ISSN: 1758-5090 (Electronic) Linking ISSN: 17585082 NLM ISO Abbreviation: Biofabrication Subsets: MEDLINE