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Autor:
Patil SA, Maegawa GHB
Publikováno v:
Drug Design, Development and Therapy, Vol 2013, Iss default, Pp 729-745 (2013)
Shilpa A Patil,1 Gustavo HB Maegawa1,2 1McKusick-Nathans Institute of Genetic Medicine, 2Department of Pediatrics, The Johns Hopkins School of Medicine, Baltimore, MD, USA Abstract: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosom
Externí odkaz:
https://doaj.org/article/75851455d8be47b8a8de4cf32633327c
Autor:
Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JTR
Publikováno v:
Pediatrics; Nov2006, Vol. 118 Issue 5, pe1550-62, 1p
Autor:
Jang DS; Department of Pediatrics, University of Florida, Gainesville, Florida., Ye W; National Institutes of Health Center for Advancing Translational Sciences, Rockville, Maryland., Guimei T; Department of Pediatrics, University of Florida, Gainesville, Florida., Solomon M; Institute for Bioscience and Biotechnology Research, University of Maryland, College Park, Maryland., Southall N; National Institutes of Health Center for Advancing Translational Sciences, Rockville, Maryland., Hu X; National Institutes of Health Center for Advancing Translational Sciences, Rockville, Maryland., Marugan J; National Institutes of Health Center for Advancing Translational Sciences, Rockville, Maryland., Ferrer M; National Institutes of Health Center for Advancing Translational Sciences, Rockville, Maryland., Maegawa GH; Department of Pediatrics, University of Florida, Gainesville, Florida. gmaegawa@ufl.edu.; Department of Neuroscience, University of Florida, Gainesville, Florida. gmaegawa@ufl.edu.; Department of Microbiology and Immunology, University of Florida, Gainesville, Florida. gmaegawa@ufl.edu.
Publikováno v:
Journal of neuroscience research [J Neurosci Res] 2016 Nov; Vol. 94 (11), pp. 1231-45.
Autor:
Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: seemal@bcm.edu., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Watkin LB; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital Center for Human Immuno-Biology, Houston, TX 77030, USA., Chiang T; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA., Zhu W; Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA., Ding Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Pan S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Vetrini F; Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA., Miyake CY; Department of Pediatric Cardiology, Texas Children's Hospital, Houston, TX 77030, USA., Shinawi M; Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA., Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Emrick L; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA., Wilnai Y; Division of Medical Genetics, Stanford School of Medicine, Stanford, CA 94304, USA., Schelley S; Division of Medical Genetics, Stanford School of Medicine, Stanford, CA 94304, USA., Koenig MK; Division of Child & Adolescent Neurology, Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Memon N; Division of Cardiology, DCH Regional Medical Center, Tuscaloosa, AL 35401, USA., Farach LS; Division of Medical Genetics, Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Coe BP; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Hernandez P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Lotze T; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA., Clark G; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA., Wilfong A; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA., Northrup H; Division of Medical Genetics, Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Adesina A; Department of Pathology, Texas Children's Hospital, Houston, TX 77030, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Crosson J; Division of Pediatric Cardiology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Duis J; Mckusick-Nathans Inst. of Genetic Medicine & Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Maegawa GH; Mckusick-Nathans Inst. of Genetic Medicine & Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Division of Genetics & Metabolism, University of Florida, Gainsville, FL 32610, USA., Coman D; Department of Metabolic Medicine, Lady Cilento Children's Hospital, South Brisbane, QLD 4101, Australia., Inwood A; Department of Metabolic Medicine, Lady Cilento Children's Hospital, South Brisbane, QLD 4101, Australia., McGill J; Department of Metabolic Medicine, Lady Cilento Children's Hospital, South Brisbane, QLD 4101, Australia., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, School of Public Health, University of Houston Health Science Center, Houston, TX 77030, USA., Graham B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Beaudet A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA., Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA., Orange JS; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital Center for Human Immuno-Biology, Houston, TX 77030, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA. Electronic address: yapingy@bcm.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2016 Feb 04; Vol. 98 (2), pp. 347-57. Date of Electronic Publication: 2016 Jan 21.
Autor:
Goker-Alpan O; Lysosomal Disorders Research and Treatment Unit, Center for Clinical Trials, 11212 Waples Mill Road, Fairfax, VA, 22030, USA. ogokeralpan@oandoalpan.com., Gambello MJ; Emory University School of Medicine, Atlanta, GA, USA., Maegawa GH; The Johns Hopkins School of Medicine, Baltimore, MD, USA., Nedd KJ; Infusion Associates, Grand Rapids, MI, USA., Gruskin DJ; Genzyme, A Sanofi Company, Cambridge, MA, USA., Blankstein L; Genzyme, A Sanofi Company, Cambridge, MA, USA., Weinreb NJ; University Research Foundation for Lysosomal Storage Diseases, Coral Springs, FL, USA.
Publikováno v:
JIMD reports [JIMD Rep] 2016; Vol. 25, pp. 95-106. Date of Electronic Publication: 2015 Aug 25.
Autor:
Teixeira CA; Nerve Regeneration Group, IBMC - Instituto de Biologia Molecular e Celular, Rua do Campo Alegre 823, 4150-180 Porto, Portugal., Miranda CO; Nerve Regeneration Group, IBMC - Instituto de Biologia Molecular e Celular, Rua do Campo Alegre 823, 4150-180 Porto, Portugal; ICBAS - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Largo Prof. Abel Salazar, 2, 4099-003 Porto, Portugal., Sousa VF; Nerve Regeneration Group, IBMC - Instituto de Biologia Molecular e Celular, Rua do Campo Alegre 823, 4150-180 Porto, Portugal; ICBAS - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Largo Prof. Abel Salazar, 2, 4099-003 Porto, Portugal., Santos TE; Nerve Regeneration Group, IBMC - Instituto de Biologia Molecular e Celular, Rua do Campo Alegre 823, 4150-180 Porto, Portugal., Malheiro AR; Nerve Regeneration Group, IBMC - Instituto de Biologia Molecular e Celular, Rua do Campo Alegre 823, 4150-180 Porto, Portugal., Solomon M; McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Maegawa GH; McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Brites P; Nerve Regeneration Group, IBMC - Instituto de Biologia Molecular e Celular, Rua do Campo Alegre 823, 4150-180 Porto, Portugal., Sousa MM; Nerve Regeneration Group, IBMC - Instituto de Biologia Molecular e Celular, Rua do Campo Alegre 823, 4150-180 Porto, Portugal. Electronic address: msousa@ibmc.up.pt.
Publikováno v:
Neurobiology of disease [Neurobiol Dis] 2014 Jun; Vol. 66, pp. 92-103. Date of Electronic Publication: 2014 Mar 06.
Autor:
Alqahtani E; Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: eman_alqahtani@hotmail.com., Huisman TA; Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA., Boltshauser E; Department of Pediatric Neurology, University Children's Hospital of Zurich, Zurich, Switzerland., Scheer I; Division of Diagnostic Imaging, University Children's Hospital of Zurich, Zurich, Switzerland., Güngör T; Department of Blood and Marrow Transplantation (BMT), University Children's Hospital of Zurich, Zurich, Switzerland., Tekes A; Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA., Maegawa GH; Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA., Poretti A; Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Pediatric Neurology, University Children's Hospital of Zurich, Zurich, Switzerland. Electronic address: aporett1@jhmi.edu.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2014 Mar; Vol. 18 (2), pp. 211-7. Date of Electronic Publication: 2013 Dec 31.
Autor:
Ribbens JJ; McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Moser AB; Kennedy Krieger Institute, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Hubbard WC; Division of Clinical Pharmacology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Division of Clinical Pharmacology, Allergy and Clinical Immunology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Bongarzone ER; Department of Anatomy and Cell Biology, University of Illinois, Chicago, IL 60612, USA., Maegawa GH; McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: gmaegaw1@jhmi.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2014 Feb; Vol. 111 (2), pp. 172-83. Date of Electronic Publication: 2013 Sep 21.
Autor:
Pastores GM; Departments of Neurology and Pediatrics, New York University School of Medicine, NYU at Rivergate, 403 East 34th Street, 2nd Floor, New York, NY 10016, USA; Neurogenetics Laboratory, New York University School of Medicine, NYU at Rivergate, 403 East 34th Street, 2nd Floor, New York, NY 10016, USA. Electronic address: gregory.pastores@nyumc.org., Maegawa GH
Publikováno v:
Neurologic clinics [Neurol Clin] 2013 Nov; Vol. 31 (4), pp. 1051-71.