المؤلفون: Burrow TA, Barnes S, Grabowski GA

المصدر: Pediatric Health, Medicine and Therapeutics, Vol 2011, Iss default, Pp 59-73 (2011)

مصطلحات موضوعية: Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.dovepress.com/prevalence-and-management-of-gaucher-disease-a7693; https://doaj.org/toc/1179-9927

URL الوصول: https://doaj.org/article/86f0136a937f42d7b7e0f7db680fff80

المؤلفون: Wan Hsi Chen, Monish Ram Makena, Aaron Smith, Venkatesh Pilla Reddy, Reynolds Cp, Eslinger C, Balakrishna Koneru, Burrow Ta, Joanne Wilson, Steve T. Durant, Elaine Cadogan, Ashly Hindle, Thinh H. Nguyen, Ahsan Farooqi

مصطلحات موضوعية: Chemotherapy, Telomerase, Temozolomide, Chemistry, DNA damage, medicine.medical_treatment, medicine.disease, Telomere, Irinotecan, In vivo, Neuroblastoma, medicine, Cancer research, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::24a34a0a253bc93140e72349257e5963
https://doi.org/10.1101/2021.04.06.438692

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المؤلفون: Koch RL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address: rebecca.koch@duke.edu., Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kiely BT; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Asai A; Department of Pediatrics, University of Cincinnati Medical Center, Cincinnati, OH, USA; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Smith AL; Division of Urology, Department of Surgery, University of Pennsylvania Health System, Philadelphia, PA, USA., Bali DS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Kang PB; Paul and Sheila Wellstone Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA., Landstrom AP; Division of Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA; Department of Cell Biology, Duke University School of Medicine, Durham, NC, USA., Akman HO; Department of Neurology, Columbia University Irving Medical Center, New York City, NY, USA., Burrow TA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Orthmann-Murphy JL; Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA., Goldman DS; Adult Polyglucosan Body Disease Research Foundation, Brooklyn, NY, USA., Pendyal S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., El-Gharbawy AH; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Austin SL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Case LE; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA; Doctor of Physical Therapy Division, Department of Orthopedic Surgery, Duke University School of Medicine, Durham, NC, USA., Schiffmann R; Texas Neurology Group, Dallas, TX, USA., Hirano M; Department of Neurology, Columbia University Irving Medical Center, New York City, NY, USA., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2023 Mar; Vol. 138 (3), pp. 107525. Date of Electronic Publication: 2023 Jan 25.

نوع المنشور: Journal Article; Review

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: Glycogen Storage Disease Type IV*/diagnosis , Glycogen Storage Disease Type IV*/genetics , Glycogen Storage Disease Type IV*/therapy , Neurodegenerative Diseases* , Glycogen Storage Disease*/diagnosis , Glycogen Storage Disease*/genetics , Glycogen Storage Disease*/therapy, Child, Preschool ; Humans ; Glycogen

SCR Disease Name: Polyglucosan Body Disease, Adult Form

المؤلفون: Hannah WB; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Ryan K; Division of Pediatric Hematology-Oncology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Pendyal S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Burrow TA; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Section of Genetics and Metabolism, Little Rock, Arkansas, USA., Harley SE; Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Cordell M; Novant Health, Charlotte, North Carolina, USA., McCall CM; Department of Pathology, Duke University Medical Center, Durham, North Carolina, USA., Mavis AM; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Tan QK; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Nov; Vol. 188 (11), pp. 3364-3368. Date of Electronic Publication: 2022 Aug 16.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Lymphohistiocytosis, Hemophagocytic*/diagnosis , Wolman Disease*/diagnosis , Wolman Disease*/drug therapy , Wolman Disease*/genetics, Child ; Cholesterol ; Hepatomegaly/diagnosis ; Humans ; Infant ; Lipids ; Splenomegaly/complications ; Splenomegaly/diagnosis

المؤلفون: Macha SJ; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.; Department of Cell Biology & Biochemistry, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas., Koneru B; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.; Department of Pediatrics, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas., Burrow TA; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas., Zhu C; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas., Savitski D; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas., Rahman RL; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.; Department of Surgery, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas., Ronaghan CA; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.; Department of Surgery, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas., Nance J; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.; Department of Pediatrics, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas., McCoy K; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.; Department of Pediatrics, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas., Eslinger C; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas., Reynolds CP; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.; Department of Cell Biology & Biochemistry, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.; Department of Pediatrics, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.

المصدر: Cancer research [Cancer Res] 2022 Sep 16; Vol. 82 (18), pp. 3345-3358.

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

بيانات الدورية: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 2984705R Publication Model: Print Cited Medium: Internet ISSN: 1538-7445 (Electronic) Linking ISSN: 00085472 NLM ISO Abbreviation: Cancer Res Subsets: MEDLINE

مواضيع طبية MeSH: Carcinoma* , Neuroblastoma*/drug therapy , Neuroblastoma*/genetics , Sarcoma*/genetics , Telomerase*/genetics, Animals ; Humans ; Irinotecan ; Mice ; Telomere/genetics ; Telomere/metabolism ; Telomere Homeostasis/genetics ; Tumor Suppressor Protein p53/genetics ; Tumor Suppressor Protein p53/metabolism

المؤلفون: Weinreb NJ; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA. Electronic address: bonneal@hotmail.com., Goker-Alpan O; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA, USA. Electronic address: ogoker-alpan@ldrtc.org., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address: priya.kishnani@duke.edu., Longo N; Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA. Electronic address: nicola.longo@hsc.utah.edu., Burrow TA; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR, USA. Electronic address: taburrow@uams.edu., Bernat JA; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, IA, USA. Electronic address: john-bernat@uiowa.edu., Gupta P; St Joseph's University Hospital, Paterson, NJ, USA. Electronic address: gupitap@sjhmc.org., Henderson N; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA. Electronic address: nadene.henderson@chp.edu., Pedro H; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, NJ, USA. Electronic address: helio.pedro@hmhn.org., Prada CE; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital and Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. Electronic address: cprada@luriechildrens.org., Vats D; Kaiser Permanente Southern California, Los Angeles, CA, USA. Electronic address: divya.vats@kp.org., Pathak RR; Takeda Pharmaceuticals USA, Inc., Lexington, MA, USA. Electronic address: ravi.pathak@takeda.com., Wright E; Takeda Pharmaceuticals USA, Inc., Lexington, MA, USA. Electronic address: ekaterina.wright@takeda.com., Ficicioglu C; Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, PA, USA. Electronic address: ficicioglu@chop.edu.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2022 May; Vol. 136 (1), pp. 4-21. Date of Electronic Publication: 2022 Mar 09.

نوع المنشور: Journal Article; Review

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: Gaucher Disease*/diagnosis , Gaucher Disease*/genetics , Gaucher Disease*/therapy, Biomarkers ; Child ; Child, Preschool ; Disease Progression ; Humans ; Lysosomes ; Phenotype

المؤلفون: Samanta D; Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Veerapandiyan A; Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Burrow TA; Genetics Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Gokden M; Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

المصدر: Journal of pediatric neurosciences [J Pediatr Neurosci] 2021 Oct-Dec; Vol. 16 (4), pp. 299-302. Date of Electronic Publication: 2021 Jul 19.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Medknow Publications & Media Country of Publication: India NLM ID: 101273794 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1817-1745 (Print) Linking ISSN: 18171745 NLM ISO Abbreviation: J Pediatr Neurosci Subsets: PubMed not MEDLINE

المؤلفون: Koneru B; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA.; Department of Pediatrics, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA.; Department of Cell Biology and Biochemistry, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA., Farooqi A; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA., Nguyen TH; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA., Chen WH; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA., Hindle A; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA.; Department of Cell Biology and Biochemistry, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA., Eslinger C; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA., Makena MR; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA., Burrow TA; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA., Wilson J; Early Oncology, R&D AstraZeneca, Cambridge CB10 1XL, UK., Smith A; Early Oncology, R&D AstraZeneca, Cambridge CB10 1XL, UK., Pilla Reddy V; Clinical Pharmacology and Quantitative Pharmacology, Biopharmaceuticals R&D, AstraZeneca, Cambridge SG8 6EE, UK., Cadogan E; Early Oncology, R&D AstraZeneca, Cambridge CB10 1XL, UK., Durant ST; Early Oncology, R&D AstraZeneca, Cambridge CB10 1XL, UK., Reynolds CP; Cancer Center, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA. patrick.reynolds@ttuhsc.edu.; Department of Pediatrics, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA.; Department of Cell Biology and Biochemistry, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA.; Department of Internal Medicine, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA.

المصدر: Science translational medicine [Sci Transl Med] 2021 Aug 18; Vol. 13 (607).

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

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Ataxia Telangiectasia* , Neuroblastoma*/drug therapy, Animals ; Ataxia Telangiectasia Mutated Proteins ; Drug Resistance, Neoplasm ; Humans ; Mice ; Neoplasm Recurrence, Local ; Pyridines ; Quinolines ; Telomere ; Telomere Homeostasis

المؤلفون: Grant N; Health, Medicine, and Society, University of Cambridge, Cambridge, United Kingdom., Burrow TA; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Section of Genetics and Metabolism, Little Rock, AR, United States.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Mar 31; Vol. 27, pp. 100740. Date of Electronic Publication: 2021 Mar 31 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE