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Tytuł:
Efficacy of a Combination Therapy with Laronidase and Genistein in Treating Mucopolysaccharidosis Type I in a Mouse Model.
Autorzy:
Malinowska M; Department of Medical Biology and Genetics, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland.
Nowicka W; InviMed Ferility Clinics, 10 Lutego 16, 81-364 Gdynia, Poland.
Kloska A; Department of Medical Biology and Genetics, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland.
Węgrzyn G; Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland.
Jakóbkiewicz-Banecka J; Department of Medical Biology and Genetics, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 17; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 17.
Typ publikacji:
Journal Article
MeSH Terms:
Mucopolysaccharidosis I*/drug therapy
Female ; Mice ; Animals ; Iduronidase/therapeutic use ; Genistein/pharmacology ; Genistein/therapeutic use ; Brain ; Blood-Brain Barrier ; Glycosaminoglycans/therapeutic use ; Thrombin/therapeutic use ; Disease Models, Animal ; Enzyme Replacement Therapy/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mapping brain networks in MPS I mice and their restoration following gene therapy.
Autorzy:
Zhu W; Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN, 55455, USA.; Department of Radiology, University of Minnesota, Minneapolis, MN, 55455, USA.
Ou L; Department of Pediatrics, University of Minnesota, Minneapolis, MN, 55455, USA.; Genemagic Biosciences, Media, PA, 19063, USA.
Zhang L; Division of Biostatistics, University of Minnesota, Minneapolis, MN, 55455, USA.
Clark IH; Biomedical Engineering Graduate Program, University of Minnesota, Minneapolis, MN, 55455, USA.
Zhang Y; Minnesota Supercomputing Institute, University of Minnesota, Minneapolis, MN, 55455, USA.
Zhu XH; Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN, 55455, USA.; Department of Radiology, University of Minnesota, Minneapolis, MN, 55455, USA.
Whitley CB; Department of Pediatrics, University of Minnesota, Minneapolis, MN, 55455, USA.
Hackett PB; Department of Genetics, Cell Biology Development, University of Minnesota, Minneapolis, MN, 55455, USA.; Stem Cell Institute, University of Minnesota, Minneapolis, MN, 55455, USA.
Low WC; Biomedical Engineering Graduate Program, University of Minnesota, Minneapolis, MN, 55455, USA. .; Stem Cell Institute, University of Minnesota, Minneapolis, MN, 55455, USA. .; Department of Neurosurgery, University of Minnesota, Minneapolis, MN, 55455, USA. .; Graduate Program in Neuroscience, University of Minnesota, Minneapolis, MN, 55455, USA. .
Chen W; Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN, 55455, USA. .; Department of Radiology, University of Minnesota, Minneapolis, MN, 55455, USA. .; Biomedical Engineering Graduate Program, University of Minnesota, Minneapolis, MN, 55455, USA. .; Stem Cell Institute, University of Minnesota, Minneapolis, MN, 55455, USA. .
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Źródło:
Scientific reports [Sci Rep] 2023 Aug 05; Vol. 13 (1), pp. 12716. Date of Electronic Publication: 2023 Aug 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Mucopolysaccharidosis I*/genetics
Mucopolysaccharidosis I*/therapy
Humans ; Animals ; Mice ; Brain/diagnostic imaging ; Genetic Therapy/methods ; Brain Mapping/methods ; Magnetic Resonance Imaging
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Actin Cytoskeleton Polymerization and Focal Adhesion as Important Factors in the Pathomechanism and Potential Targets of Mucopolysaccharidosis Treatment.
Autorzy:
Gaffke L; Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Rintz E; Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Pierzynowska K; Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Węgrzyn G; Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
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Źródło:
Cells [Cells] 2023 Jul 05; Vol. 12 (13). Date of Electronic Publication: 2023 Jul 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mucopolysaccharidoses*/therapy
Mucopolysaccharidosis I*/therapy
Mucopolysaccharidosis I*/metabolism
Animals ; Mice ; Focal Adhesions/metabolism ; Polymerization ; Actin Cytoskeleton/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).
Autorzy:
Siddiqui A; Department of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Dundar H; Department of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Next Generation Sequencing Transplant Diagnostics, Thermo-Fisher Scientific, West Hills, CA 91304, USA.
Sharma J; Cystic Fibrosis Research Center, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Division of Infectious Diseases, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Kaczmarczyk A; Department of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; ARUP Laboratories, Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA.
Echols J; Department of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Dai Y; Department of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Sun CR; Department of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Du M; Department of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Cystic Fibrosis Research Center, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Liu Z; Department of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Zhao R; Department of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Wood T; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Sanders S; Southern Research, Birmingham, AL 35205, USA.
Rasmussen L; Southern Research, Birmingham, AL 35205, USA.
Bostwick JR; Southern Research, Birmingham, AL 35205, USA.
Augelli-Szafran C; Southern Research, Birmingham, AL 35205, USA.
Suto M; Southern Research, Birmingham, AL 35205, USA.
Rowe SM; Cystic Fibrosis Research Center, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Bedwell DM; Department of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Cystic Fibrosis Research Center, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Keeling KM; Department of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Cystic Fibrosis Research Center, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Feb 24; Vol. 24 (5). Date of Electronic Publication: 2023 Feb 24.
Typ publikacji:
Journal Article
MeSH Terms:
Mucopolysaccharidosis I*/genetics
Animals ; Iduronidase ; Triamterene ; Codon, Nonsense ; Diuretics ; Glycosaminoglycans/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Murine Fibroblasts and Primary Hepatocytes as Tools When Studying the Efficacy of Potential Therapies for Mucopolysaccharidosis Type I.
Autorzy:
Węsierska M; Department of Medical Biology and Genetics, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland.
Nowicka W; Department of Medical Biology and Genetics, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland.
Kloska A; Department of Medical Biology and Genetics, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland.
Jakóbkiewicz-Banecka J; Department of Medical Biology and Genetics, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland.
Malinowska M; Department of Medical Biology and Genetics, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Dec 28; Vol. 24 (1). Date of Electronic Publication: 2022 Dec 28.
Typ publikacji:
Journal Article
MeSH Terms:
Mucopolysaccharidosis I*/drug therapy
Mucopolysaccharidosis I*/genetics
Mice ; Animals ; Glycosaminoglycans/metabolism ; Fibroblasts/metabolism ; Hepatocytes/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of an α‐l‐iduronidase (IDUA) M1T mutation in a Chinese family with autosomal recessive mucopolysaccharidosis I.
Autorzy:
Liu, Dan (AUTHOR)
Jiang, Zhongjing (AUTHOR)
Deng, Linhua (AUTHOR)
Li, Haibo (AUTHOR)
Jiang, Haibo (AUTHOR)
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Źródło:
Annals of the New York Academy of Sciences. Aug2023, Vol. 1526 Issue 1, p114-125. 12p. 5 Color Photographs, 1 Black and White Photograph, 1 Diagram, 1 Graph.
Czasopismo naukowe
Szczegóły
Tytuł:
Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors.
Autorzy:
Lito S; Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, CH-1211 Geneva 4, Switzerland.
Sidibe A; Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, CH-1211 Geneva 4, Switzerland.
Ilmjarv S; Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, CH-1211 Geneva 4, Switzerland.
Burda P; Division of Metabolism and Children's Research Center, University Children's Hospital, CH-8032 Zürich, Switzerland.
Baumgartner M; Division of Metabolism and Children's Research Center, University Children's Hospital, CH-8032 Zürich, Switzerland.
Wehrle-Haller B; Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, CH-1211 Geneva 4, Switzerland.
Krause KH; Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, CH-1211 Geneva 4, Switzerland.
Marteyn A; Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, CH-1211 Geneva 4, Switzerland.
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Źródło:
Cells [Cells] 2020 Dec 03; Vol. 9 (12). Date of Electronic Publication: 2020 Dec 03.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cell Movement/*genetics
Induced Pluripotent Stem Cells/*metabolism
Mucopolysaccharidosis I/*metabolism
Neurons/*metabolism
Cell Differentiation/genetics ; Cells, Cultured ; Gene Expression/genetics ; Glycosaminoglycans/genetics ; Glycosaminoglycans/metabolism ; Humans ; Iduronidase/genetics ; Iduronidase/metabolism ; Lysosomes/genetics ; Lysosomes/metabolism ; Mucopolysaccharidosis I/genetics ; Mutation/genetics ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.
Autorzy:
Guffon N; Reference Center for Inherited Metabolic Disorders of Lyon, (CERLYMM), Hospices Civils de Lyon, 69677, Bron, France. .
Genevaz D; Vaincre Les Maladies Lysosomales, 91300, Massy, France.
Lacombe D; Medical Genetics Unit, University Hospital of Bordeaux, INSERM U1211, 33076, Bordeaux, France.
Le Peillet Feuillet E; Sanofi, 94250, Gentilly, France.
Bausson P; Study Department, AplusA Company, 92641, Boulogne Billancourt, France.
Noel E; University Hospital of Strasbourg, BP 426, 67100, Strasbourg, France.
Maillot F; Department of Internal Medicine, Regional University Hospital of Tours, 37000, Tours, France.
Belmatoug N; Reference Center of Lysosomal Diseases, Beaujon Hospital, 92110, Clichy, France.
Jaussaud R; Department of Internal Medicine and Clinical Immunology, Nancy University Hospital, 54500, Vandoeuvre-Les-Nancy, France.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Dec 23; Vol. 17 (1), pp. 448. Date of Electronic Publication: 2022 Dec 23.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Disabled Persons*
Motor Disorders*
Mucopolysaccharidoses*/diagnosis
Mucopolysaccharidosis I*
Adult ; Female ; Adolescent ; Humans ; Child ; Child, Preschool ; Caregivers/psychology ; Motivation ; France
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS).
Autorzy:
Spataro F; Department of Emergency and Organ Transplantation, School and Chair of Allergology and Clinical Immunology, University of Bari - Aldo Moro, Bari, Italy. .
Viggiani F; Department of Emergency and Organ Transplantation, School and Chair of Allergology and Clinical Immunology, University of Bari - Aldo Moro, Bari, Italy.
Macchia DG; Department of Interdisciplinary Medicine, Clinica Medica 'C. Frugoni', University of Bari - Aldo Moro, Bari, Italy.
Rollo V; Department of Emergency and Organ Transplantation, School and Chair of Allergology and Clinical Immunology, University of Bari - Aldo Moro, Bari, Italy.
Tummolo A; Metabolic Diseases and Clinical Genetics Unit, Department of Pediatric Medicine, Giovanni XXIII Children's Hospital, Bari, Italy.
Suppressa P; Department of Interdisciplinary Medicine, Clinica Medica 'C. Frugoni', University of Bari - Aldo Moro, Bari, Italy.
Sabba' C; Department of Interdisciplinary Medicine, Clinica Medica 'C. Frugoni', University of Bari - Aldo Moro, Bari, Italy.
Rossi MP; Department of Emergency and Organ Transplantation, School and Chair of Allergology and Clinical Immunology, University of Bari - Aldo Moro, Bari, Italy.
Giliberti L; Department of Emergency and Organ Transplantation, School and Chair of Allergology and Clinical Immunology, University of Bari - Aldo Moro, Bari, Italy.
Satriano F; Department of Emergency and Organ Transplantation, School and Chair of Allergology and Clinical Immunology, University of Bari - Aldo Moro, Bari, Italy.
Nettis E; Department of Emergency and Organ Transplantation, School and Chair of Allergology and Clinical Immunology, University of Bari - Aldo Moro, Bari, Italy.
Di Bona D; Department of Emergency and Organ Transplantation, School and Chair of Allergology and Clinical Immunology, University of Bari - Aldo Moro, Bari, Italy.
Caiaffa MF; Department of Medical and Surgical Sciences, School and Chair of Allergology and Clinical Immunology, University of Foggia, Foggia, Italy.
Fischetto R; Metabolic Diseases and Clinical Genetics Unit, Department of Pediatric Medicine, Giovanni XXIII Children's Hospital, Bari, Italy.
Macchia L; Department of Emergency and Organ Transplantation, School and Chair of Allergology and Clinical Immunology, University of Bari - Aldo Moro, Bari, Italy.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Nov 03; Vol. 17 (1), pp. 402. Date of Electronic Publication: 2022 Nov 03.
Typ publikacji:
Journal Article
MeSH Terms:
Mucopolysaccharidosis II*/drug therapy
Mucopolysaccharidosis I*/drug therapy
Iduronate Sulfatase*/therapeutic use
Hypersensitivity*
Humans ; Enzyme Replacement Therapy/methods ; Recombinant Proteins/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pathogenic Roles of Heparan Sulfate and Its Use as a Biomarker in Mucopolysaccharidoses.
Autorzy:
Minami K; Research Division, JCR Pharmaceuticals, Kobe 651-2241, Japan.
Morimoto H; Research Division, JCR Pharmaceuticals, Kobe 651-2241, Japan.
Morioka H; Research Division, JCR Pharmaceuticals, Kobe 651-2241, Japan.
Imakiire A; Research Division, JCR Pharmaceuticals, Kobe 651-2241, Japan.
Kinoshita M; Research Division, JCR Pharmaceuticals, Kobe 651-2241, Japan.
Yamamoto R; Research Division, JCR Pharmaceuticals, Kobe 651-2241, Japan.
Hirato T; Research Division, JCR Pharmaceuticals, Kobe 651-2241, Japan.
Sonoda H; Research Division, JCR Pharmaceuticals, Kobe 651-2241, Japan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Oct 03; Vol. 23 (19). Date of Electronic Publication: 2022 Oct 03.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Mucopolysaccharidoses*/pathology
Mucopolysaccharidosis I*
Biomarkers ; Glycosaminoglycans ; Heparan Sulfate Proteoglycans ; Heparitin Sulfate/metabolism ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
MPSI Manifestations and Treatment Outcome: Skeletal Focus.
Autorzy:
De Ponti G; San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Donsante S; Department of Molecular Medicine, Sapienza University, 00161 Rome, Italy.
Frigeni M; Department of Pediatrics, Division of Medical Genetics and Metabolism, Zucker School of Medicine at Hofstra/Northwell, New York, NY 11021, USA.
Pievani A; Centro Ricerca M. Tettamanti, Department of Pediatrics, University of Milano-Bicocca, 20900 Monza, Italy.
Corsi A; Department of Molecular Medicine, Sapienza University, 00161 Rome, Italy.
Bernardo ME; San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.; Pediatric Immunohematology and Bone Marrow Transplantation Unit, San Raffaele Scientific Institute, 20132 Milan, Italy.; Pediatrics Department, Vita-Salute San Raffaele University, 20132 Milan, Italy.
Riminucci M; Department of Molecular Medicine, Sapienza University, 00161 Rome, Italy.
Serafini M; Department of Pediatrics, Division of Medical Genetics and Metabolism, Zucker School of Medicine at Hofstra/Northwell, New York, NY 11021, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Sep 22; Vol. 23 (19). Date of Electronic Publication: 2022 Sep 22.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Iduronidase*/genetics
Mucopolysaccharidosis I*/genetics
Glycosaminoglycans/metabolism ; Humans ; Phenotype ; Quality of Life
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.
Autorzy:
Różdżyńska-Świątkowska A; Anthropology Laboratory, Children's Memorial Health Institute, Warsaw, Poland. .
Zielińska A; Anthropology Laboratory, Children's Memorial Health Institute, Warsaw, Poland.
Tylki-Szymańska A; Department of Paediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Sep 05; Vol. 17 (1), pp. 339. Date of Electronic Publication: 2022 Sep 05.
Typ publikacji:
Journal Article
MeSH Terms:
Mucopolysaccharidoses*
Mucopolysaccharidosis I*
Mucopolysaccharidosis III*
Mucopolysaccharidosis IV*
Mucopolysaccharidosis VI*
Child ; Humans ; Retrospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Autorzy:
Chuang CK; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan.; College of Medicine, Fu-Jen Catholic University, New Taipei City 24205, Taiwan.
Tu YR; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Lee CL; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.; The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Lo YT; The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Chang YH; The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Liu MY; The Chinese Foundation of Health, Neonatal Screening Center, Taipei 11070, Taiwan.
Liu HY; The Chinese Foundation of Health, Neonatal Screening Center, Taipei 11070, Taiwan.
Chen HJ; The Chinese Foundation of Health, Neonatal Screening Center, Taipei 11070, Taiwan.
Kao SM; The Chinese Foundation of Health, Neonatal Screening Center, Taipei 11070, Taiwan.
Wang LY; Taipei Institute of Pathology, Neonatal Screening Center, Taipei 103642, Taiwan.
Ho HJ; Taipei Institute of Pathology, Neonatal Screening Center, Taipei 103642, Taiwan.
Lin HY; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.; The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Department of Early Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management, Taipei 11260, Taiwan.; Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan.; Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 406040, Taiwan.
Lin SP; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.; The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Department of Early Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management, Taipei 11260, Taiwan.; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei 112303, Taiwan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Sep 01; Vol. 23 (17). Date of Electronic Publication: 2022 Sep 01.
Typ publikacji:
Journal Article
MeSH Terms:
Mucopolysaccharidoses*/diagnosis
Mucopolysaccharidoses*/genetics
Mucopolysaccharidosis I*
Mucopolysaccharidosis II*
Disaccharides ; Glycosaminoglycans/genetics ; Humans ; Infant ; Infant, Newborn ; Tandem Mass Spectrometry/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I-A Mini-Review.
Autorzy:
Zapolnik P; College of Medical Sciences, University of Rzeszów, 35-959 Rzeszów, Poland.
Pyrkosz A; Department of Clinical Genetics, College of Medical Sciences, University of Rzeszów, 35-959 Rzeszów, Poland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Apr 26; Vol. 23 (9). Date of Electronic Publication: 2022 Apr 26.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Mucopolysaccharidosis I*/genetics
Mucopolysaccharidosis I*/therapy
Mucopolysaccharidosis II*/genetics
Enzyme Replacement Therapy ; Genetic Therapy ; Glycosaminoglycans/metabolism ; Heparitin Sulfate/metabolism ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Newborn screening of mucopolysaccharidosis type I.
Autorzy:
Burlina AB; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
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Źródło:
Critical reviews in clinical laboratory sciences [Crit Rev Clin Lab Sci] 2022 Jun; Vol. 59 (4), pp. 257-277. Date of Electronic Publication: 2022 Jan 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mucopolysaccharidosis I*/diagnosis
Heparitin Sulfate ; Humans ; Iduronidase/analysis ; Infant ; Infant, Newborn ; Neonatal Screening/methods ; Tandem Mass Spectrometry/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I".
Autorzy:
Poletto E; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. .; Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-903, Brazil. .
Matte U; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-903, Brazil.
Baldo G; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-903, Brazil.
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Źródło:
BMC medical genetics [BMC Med Genet] 2018 Oct 04; Vol. 19 (1), pp. 180. Date of Electronic Publication: 2018 Oct 04.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't; Comment
MeSH Terms:
Mucopolysaccharidosis I*
Iduronidase/*genetics
China ; Humans ; Japan ; Mutation
Raport
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