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Wyszukujesz frazę ""Mucopolysaccharidosis I"" wg kryterium: Temat


Tytuł :
Dysostosis Multiplex in Human Mucopolysaccharidosis Type 1 H and in Animal Models of the Disease.
Autorzy :
Hampe CS; Immusoft Corp, Seattle, WA 98103, USA, E-mail: .
Polgreen LE; The Lundquist Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Lund TC; Department of Pediatrics, Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN 55455, USA.
McIvor RS; Immusoft Corp, Minneapolis, MN 55413, USA, Department of Genetics, Cell Biology and Development and Center for Genome Engineering, University of Minnesota, Minneapolis, MN, USA.
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Źródło :
Pediatric endocrinology reviews : PER [Pediatr Endocrinol Rev] 2020 Aug; Vol. 17 (4), pp. 317-326.
Typ publikacji :
Journal Article
MeSH Terms :
Dysostoses*
Mucopolysaccharidosis I*
Animals ; Disease Models, Animal ; Dogs ; Humans ; Iduronidase ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Fatal outcome of COVID-19 disease in a 5-month infant with comorbidities.
Autorzy :
Climent FJ; Unidad de Niños con Patología Crónica Compleja, Hospital Universitario La Paz, Madrid, Spain.
Calvo C; Servicio de Pediatría y Enfermedades Infecciosas, Hospital Universitario La Paz, Madrid, Spain. Electronic address: .
García-Guereta L; Servicio de Cardiología Pediátrica, Hospital Universitario La Paz, Madrid, Spain.
Rodríguez-Álvarez D; Servicio de Cuidados Intensivos Pediátricos, Hospital Universitario La Paz, Madrid, Spain.
Buitrago NM; Servicio de Radiología Pediátrica, Hospital Universitario La Paz, Madrid, Spain.
Pérez-Martínez A; Servicio de Hemato-Oncología Pediátrica, Hospital Universitario La Paz, Madrid, Spain.
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Źródło :
Revista espanola de cardiologia (English ed.) [Rev Esp Cardiol (Engl Ed)] 2020 Aug; Vol. 73 (8), pp. 667-669. Date of Electronic Publication: 2020 Apr 27.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Coronavirus Infections/*complications
Heart Failure/*complications
Mucopolysaccharidosis I/*complications
Pneumonia, Viral/*complications
COVID-19 ; Coronavirus Infections/pathology ; Fatal Outcome ; Heart Failure/pathology ; Humans ; Infant ; Male ; Mucopolysaccharidosis I/pathology ; Pandemics ; Pneumonia, Viral/pathology
Raport
Tytuł :
Treatment of Severe Kyphoscoliosis in Children with Mucopolysaccharidosis Type I (Pfaundler-Hurler Syndrome) Using the Growing Rod Technique: A Case Series with Mid-Term Results.
Autorzy :
Hofmann A; Department of Orthopedics, Trauma, and Plastic Surgery, University Hospital Leipzig, Leipzig, Germany.
Heyde CE; Department of Orthopedics, Trauma, and Plastic Surgery, University Hospital Leipzig, Leipzig, Germany.
Völker A; Department of Orthopedics, Trauma, and Plastic Surgery, University Hospital Leipzig, Leipzig, Germany.
Schumann E; Department of Orthopedics, Trauma, and Plastic Surgery, University Hospital Leipzig, Leipzig, Germany.
Heinz von der Höh N; Department of Orthopedics, Trauma, and Plastic Surgery, University Hospital Leipzig, Leipzig, Germany. Electronic address: .
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Źródło :
World neurosurgery [World Neurosurg] 2020 Jul; Vol. 139, pp. 169-174. Date of Electronic Publication: 2020 Apr 18.
Typ publikacji :
Case Reports
MeSH Terms :
Pedicle Screws*
Kyphosis/*surgery
Lumbar Vertebrae/*surgery
Mucopolysaccharidosis I/*therapy
Scoliosis/*surgery
Spinal Fusion/*methods
Bone Marrow Transplantation ; Child ; Child, Preschool ; Female ; Humans ; Kyphosis/diagnostic imaging ; Kyphosis/etiology ; Male ; Mucopolysaccharidosis I/complications ; Scoliosis/diagnostic imaging ; Scoliosis/etiology ; Severity of Illness Index ; Treatment Outcome
Raport
Tytuł :
Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog.
Autorzy :
Mansour TA; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA, United States. .; Department of Clinical Pathology, School of Medicine, Mansoura University, Mansoura, Egypt. .
Woolard KD; Department of Pathology, Immunology and Microbiology, School of Veterinary Medicine, University of California, Davis, CA, United States.
Vernau KL; Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California, Davis, CA, United States.
Ancona DM; VCA West Coast Specialty and Emergency Animal Hospital, Fountain Valley, CA, United States.
Thomasy SM; Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California, Davis, CA, United States.; Department of Ophthalmology & Vision Science, School of Medicine, University of California, Davis, CA, United States.
Sebbag L; Department of Veterinary Clinical Sciences, College of Veterinary Medicine, Iowa State University, Ames, IA, United States.
Moore BA; Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California, Davis, CA, United States.
Knipe MF; William R Pritchard Veterinary Medical Teaching Hospital, School of Veterinary Medicine, University of California, Davis, CA, United States.
Seada HA; Department of Pathology and Laboratory Medicine, Brown University, Providence, RI, United States.
Cowan TM; Department of Pathology, Stanford University, Palo Alto, CA, United States.
Aguilar M; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA, United States.
Titus Brown C; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA, United States.
Bannasch DL; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA, United States. .
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Źródło :
Scientific reports [Sci Rep] 2020 Apr 16; Vol. 10 (1), pp. 6558. Date of Electronic Publication: 2020 Apr 16.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Whole Genome Sequencing*
Dogs/*genetics
Mucopolysaccharidosis I/*genetics
Mucopolysaccharidosis I/*veterinary
Mutation/*genetics
Animals ; Base Sequence ; Female ; Mucopolysaccharidosis I/diagnostic imaging ; Mucopolysaccharidosis I/pathology
Czasopismo naukowe
Tytuł :
Morphologic description of male reproductive accessory glands in a mouse model of mucopolysaccharidosis type I (MPS I).
Autorzy :
do Nascimento CC; Department of Psychobiology, Universidade Federal de São Paulo, 925, Napoleão de Barros St, 3rd Floor, São Paulo, SP, 04024-002, Brazil.; Department of Biosciences, Universidade Federal de São Paulo, Santos, SP, Brazil.
Junior OA; Department of Biosciences, Universidade Federal de São Paulo, Santos, SP, Brazil.
D'Almeida V; Department of Psychobiology, Universidade Federal de São Paulo, 925, Napoleão de Barros St, 3rd Floor, São Paulo, SP, 04024-002, Brazil. .
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Źródło :
Journal of molecular histology [J Mol Histol] 2020 Apr; Vol. 51 (2), pp. 137-145. Date of Electronic Publication: 2020 Mar 11.
Typ publikacji :
Journal Article
MeSH Terms :
Genitalia, Male/*pathology
Mucopolysaccharidosis I/*pathology
Animals ; Biomarkers ; Biopsy ; Disease Models, Animal ; Genitalia, Male/metabolism ; Iduronidase/deficiency ; Immunohistochemistry ; Male ; Mice ; Mice, Knockout ; Mucopolysaccharidosis I/etiology ; Mucopolysaccharidosis I/metabolism ; Prostate/metabolism ; Prostate/pathology ; Seminal Vesicles/metabolism ; Seminal Vesicles/pathology
Czasopismo naukowe
Tytuł :
Cathepsin B-associated Activation of Amyloidogenic Pathway in Murine Mucopolysaccharidosis Type I Brain Cortex.
Autorzy :
Viana GM; Department of Biochemistry, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP 04044-020, Brazil.
Gonzalez EA; Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS 90035-903, Brazil.
Alvarez MMP; Department of Biochemistry, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP 04044-020, Brazil.
Cavalheiro RP; Department of Biochemistry, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP 04044-020, Brazil.
do Nascimento CC; Department of Psychobiology, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP 04024-002, Brazil.
Baldo G; Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS 90035-903, Brazil.
D'Almeida V; Department of Psychobiology, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP 04024-002, Brazil.
de Lima MA; Molecular & Structural Biosciences, School of Life Sciences, Keele University, Huxley Building, Keele, Staffordshire ST5 5BG, UK.
Pshezhetsky AV; Division of Medical Genetics, CHU Ste-Justine Research Centre, Montreal, QC H3T 1C5, Canada.
Nader HB; Department of Biochemistry, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP 04044-020, Brazil.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Feb 20; Vol. 21 (4). Date of Electronic Publication: 2020 Feb 20.
Typ publikacji :
Journal Article
MeSH Terms :
Amyloid beta-Protein Precursor/*metabolism
Cathepsin B/*metabolism
Cerebral Cortex/*metabolism
Mucopolysaccharidosis I/*metabolism
Pyramidal Cells/*metabolism
Amyloid beta-Protein Precursor/genetics ; Animals ; Astrocytes/metabolism ; Astrocytes/pathology ; Cathepsin B/genetics ; Cerebral Cortex/pathology ; Glial Fibrillary Acidic Protein/genetics ; Glial Fibrillary Acidic Protein/metabolism ; Lysosomes/metabolism ; Lysosomes/pathology ; Mice ; Mice, Knockout ; Mucopolysaccharidosis I/genetics ; Mucopolysaccharidosis I/pathology ; Pyramidal Cells/pathology
Czasopismo naukowe
Tytuł :
Evidence that glycosaminoglycan storage and collagen deposition in the cauda epididymidis does not impair sperm viability in the Mucopolysaccharidosis type I mouse model.
Autorzy :
do Nascimento CC; Department of Psychobiology, Universidade Federal de São Paulo, 04024-002, Brazil.
Aguiar O; Department of Biosciences, Universidade Federal de São Paulo, 11015-020, Brazil.
Viana GM; Department of Biochemistry, Universidade Federal de São Paulo, 04044-020, Brazil.
D Almeida V; Department of Psychobiology, Universidade Federal de São Paulo, 04024-002, Brazil; and Corresponding author. Email: .
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Źródło :
Reproduction, fertility, and development [Reprod Fertil Dev] 2020 Feb; Vol. 32 (3), pp. 304-312.
Typ publikacji :
Journal Article
MeSH Terms :
Sperm Motility*
Collagen/*metabolism
Epididymis/*metabolism
Glycosaminoglycans/*metabolism
Mucopolysaccharidosis I/*metabolism
Spermatozoa/*metabolism
Animals ; Cell Survival ; Disease Models, Animal ; Epididymis/ultrastructure ; Fertilization ; Iduronidase/deficiency ; Iduronidase/genetics ; Male ; Mice, Inbred C57BL ; Mice, Knockout ; Mucopolysaccharidosis I/genetics ; Mucopolysaccharidosis I/pathology ; Spermatozoa/ultrastructure
Czasopismo naukowe
Tytuł :
Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice.
Autorzy :
Schuh RS; Centro de Terapia Gênica, Serviço de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre, R. Ramiro Barcelos 2350, 90035-903, Porto Alegre, RS, Brazil.; Programa de Pós-Graduação em Ciências Farmacêuticas da Universidade Federal do Rio Grande do Sul (UFRGS), Faculdade de Farmácia, Av. Ipiranga 2752, 90610-000, Porto Alegre, RS, Brazil.
Gonzalez EA; Centro de Terapia Gênica, Serviço de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre, R. Ramiro Barcelos 2350, 90035-903, Porto Alegre, RS, Brazil.; Programa de Pós-Graduação em Genética e Biologia Molecular da Universidade Federal do Rio Grande do Sul (UFRGS), Campus do Vale, Av. Bento Gonçalves 9500, 91501-970, Porto Alegre, RS, Brazil.
Tavares AMV; Centro de Terapia Gênica, Serviço de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre, R. Ramiro Barcelos 2350, 90035-903, Porto Alegre, RS, Brazil.; Programa de Pós-Graduação em Fisiologia da Universidade Federal do Rio Grande do Sul (UFRGS), Instituto de Ciências Básicas da Saúde, R. Sarmento Leite 500, 90035-190, Porto Alegre, RS, Brazil.
Seolin BG; Programa de Pós-Graduação em Fisiologia da Universidade Federal do Rio Grande do Sul (UFRGS), Instituto de Ciências Básicas da Saúde, R. Sarmento Leite 500, 90035-190, Porto Alegre, RS, Brazil.
Elias LS; Centro de Terapia Gênica, Serviço de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre, R. Ramiro Barcelos 2350, 90035-903, Porto Alegre, RS, Brazil.
Vera LNP; Centro de Terapia Gênica, Serviço de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre, R. Ramiro Barcelos 2350, 90035-903, Porto Alegre, RS, Brazil.; Programa de Pós-Graduação em Genética e Biologia Molecular da Universidade Federal do Rio Grande do Sul (UFRGS), Campus do Vale, Av. Bento Gonçalves 9500, 91501-970, Porto Alegre, RS, Brazil.
Kubaski F; Programa de Pós-Graduação em Genética e Biologia Molecular da Universidade Federal do Rio Grande do Sul (UFRGS), Campus do Vale, Av. Bento Gonçalves 9500, 91501-970, Porto Alegre, RS, Brazil.
Poletto E; Centro de Terapia Gênica, Serviço de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre, R. Ramiro Barcelos 2350, 90035-903, Porto Alegre, RS, Brazil.; Programa de Pós-Graduação em Genética e Biologia Molecular da Universidade Federal do Rio Grande do Sul (UFRGS), Campus do Vale, Av. Bento Gonçalves 9500, 91501-970, Porto Alegre, RS, Brazil.
Giugliani R; Centro de Terapia Gênica, Serviço de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre, R. Ramiro Barcelos 2350, 90035-903, Porto Alegre, RS, Brazil.; Programa de Pós-Graduação em Genética e Biologia Molecular da Universidade Federal do Rio Grande do Sul (UFRGS), Campus do Vale, Av. Bento Gonçalves 9500, 91501-970, Porto Alegre, RS, Brazil.
Teixeira HF; Programa de Pós-Graduação em Ciências Farmacêuticas da Universidade Federal do Rio Grande do Sul (UFRGS), Faculdade de Farmácia, Av. Ipiranga 2752, 90610-000, Porto Alegre, RS, Brazil.
Matte U; Centro de Terapia Gênica, Serviço de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre, R. Ramiro Barcelos 2350, 90035-903, Porto Alegre, RS, Brazil. .; Programa de Pós-Graduação em Genética e Biologia Molecular da Universidade Federal do Rio Grande do Sul (UFRGS), Campus do Vale, Av. Bento Gonçalves 9500, 91501-970, Porto Alegre, RS, Brazil. .
Baldo G; Centro de Terapia Gênica, Serviço de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre, R. Ramiro Barcelos 2350, 90035-903, Porto Alegre, RS, Brazil.; Programa de Pós-Graduação em Genética e Biologia Molecular da Universidade Federal do Rio Grande do Sul (UFRGS), Campus do Vale, Av. Bento Gonçalves 9500, 91501-970, Porto Alegre, RS, Brazil.; Programa de Pós-Graduação em Fisiologia da Universidade Federal do Rio Grande do Sul (UFRGS), Instituto de Ciências Básicas da Saúde, R. Sarmento Leite 500, 90035-190, Porto Alegre, RS, Brazil.
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Źródło :
Gene therapy [Gene Ther] 2020 Feb; Vol. 27 (1-2), pp. 74-84. Date of Electronic Publication: 2019 Dec 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Iduronidase/*genetics
Mucopolysaccharidosis I/*therapy
RNA, Untranslated/*genetics
Animals ; Animals, Newborn ; Bone Diseases/genetics ; CRISPR-Cas Systems/genetics ; Cardiovascular System/metabolism ; Clustered Regularly Interspaced Short Palindromic Repeats/genetics ; Disease Models, Animal ; Female ; Gene Editing/methods ; Genetic Therapy/methods ; Glycosaminoglycans/metabolism ; Iduronidase/metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Mucopolysaccharidosis I/genetics ; Mucopolysaccharidosis I/physiopathology ; Phenotype ; RNA, Untranslated/metabolism
Czasopismo naukowe
Tytuł :
Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a "safe harbor locus".
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Feb; Vol. 182 (2), pp. 275-276.
Typ publikacji :
Journal Article
MeSH Terms :
Hematopoietic Stem Cell Transplantation*
Iduronidase/*genetics
Mucopolysaccharidosis I/*genetics
Receptors, CCR5/*genetics
Animals ; Antigens, CD34/genetics ; CRISPR-Cas Systems/genetics ; Gene Editing/methods ; Hematopoietic Stem Cells/metabolism ; Humans ; Mice ; Mucopolysaccharidosis I/pathology ; Mucopolysaccharidosis I/therapy ; Phenotype
Czasopismo naukowe
Tytuł :
Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.
Autorzy :
Viskochil D; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah.
Clarke LA; British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
Bay L; Hospital Nacional de Pediatría J. P. Garrahan, Ciudad Autónoma de Buenos Aires, Argentina.
Keenan H; Sanofi Genzyme, Cambridge, Massachusetts.
Muenzer J; Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
Guffon N; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Lyon, France.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Dec; Vol. 179 (12), pp. 2425-2432. Date of Electronic Publication: 2019 Oct 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Growth Charts*
Phenotype*
Mucopolysaccharidosis I/*diagnosis
Mucopolysaccharidosis I/*genetics
Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Mucopolysaccharidosis I/epidemiology ; Mucopolysaccharidosis I/therapy ; Population Surveillance ; Registries
Czasopismo naukowe
Tytuł :
Sexual behaviour in a murine model of mucopolysaccharidosis type I (MPS I).
Autorzy :
Barbosa Mendes A; Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
do Nascimento CC; Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
D'Almeida V; Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
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Źródło :
PloS one [PLoS One] 2019 Dec 13; Vol. 14 (12), pp. e0220429. Date of Electronic Publication: 2019 Dec 13 (Print Publication: 2019).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Iduronidase/*genetics
Mucopolysaccharidosis I/*physiopathology
Sexual Behavior/*physiology
Animals ; Disease Models, Animal ; Disease Progression ; Female ; Glycosaminoglycans/metabolism ; Iduronidase/metabolism ; Lysosomal Storage Diseases/genetics ; Lysosomal Storage Diseases/physiopathology ; Lysosomes/metabolism ; Male ; Mice ; Mice, Knockout ; Motor Disorders ; Mucopolysaccharidosis I/genetics ; Mutation
Czasopismo naukowe
Tytuł :
A Delay in Diagnosis of Mucopolysaccharidosis Reaching Adolescence.
Autorzy :
Zebda M; Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.
Yildirim D; RBK Pediatrics Commack, NY, USA.
Cortes L; Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.
Chamarthi S; Family Healthcare Network, Hanford, CA, USA.
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Źródło :
Clinical pediatrics [Clin Pediatr (Phila)] 2019 Dec; Vol. 58 (14), pp. 1544-1546. Date of Electronic Publication: 2019 Sep 16.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Brain/*pathology
Clavicle/*pathology
Mucopolysaccharidosis I/*pathology
Adolescent ; Brain/diagnostic imaging ; Clavicle/diagnostic imaging ; Humans ; Male ; Mucopolysaccharidosis I/diagnostic imaging
Czasopismo naukowe
Tytuł :
Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation.
Autorzy :
Koehne T; Department of Orthodontics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany. .
Müller-Stöver S; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Köhn A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Stumpfe K; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Lezius S; Department of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Schmid C; Department of Orthodontics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.
Lukacs Z; Newborn Screening and Metabolic Diagnostics Unit, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kahl-Nieke B; Department of Orthodontics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.
Muschol N; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
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Źródło :
Sleep & breathing = Schlaf & Atmung [Sleep Breath] 2019 Dec; Vol. 23 (4), pp. 1315-1321. Date of Electronic Publication: 2019 Jul 22.
Typ publikacji :
Journal Article
MeSH Terms :
Hematopoietic Stem Cell Transplantation*
Polysomnography*
Craniofacial Abnormalities/*therapy
Mucopolysaccharidosis I/*therapy
Sleep Apnea, Obstructive/*therapy
Child ; Chimerism ; Craniofacial Abnormalities/diagnosis ; Female ; Humans ; Male ; Mucopolysaccharidosis I/diagnosis ; Retrospective Studies ; Sleep Apnea, Obstructive/diagnosis ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes.
Autorzy :
Eisengart JB; Department of Pediatrics, Division of Clinical Behavioral Neuroscience, University of Minnesota, Minneapolis, MN, USA.
Pierpont EI; Department of Pediatrics, Division of Clinical Behavioral Neuroscience, University of Minnesota, Minneapolis, MN, USA.
Kaizer AM; Department of Biostatistics and Informatics, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.
Rudser KD; Division of Biostatistics, University of Minnesota, Minneapolis, MN, USA.
King KE; Department of Pediatrics, Division of Clinical Behavioral Neuroscience, University of Minnesota, Minneapolis, MN, USA.
Pasquali M; Department of Pathology, University of Utah, School of Medicine, Salt Lake City, UT, USA.
Polgreen LE; Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.
Dickson PI; Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.; Department of Pediatrics, Washington University in Saint Louis, St. Louis, MO, USA.
Le SQ; Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.; Department of Pediatrics, Washington University in Saint Louis, St. Louis, MO, USA.
Miller WP; Department of Pediatrics, Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.; Sangamo Therapeutics, Richmond, CA, USA.
Tolar J; Department of Pediatrics, Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
Orchard PJ; Department of Pediatrics, Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
Lund TC; Department of Pediatrics, Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Nov; Vol. 21 (11), pp. 2552-2560. Date of Electronic Publication: 2019 Apr 25.
Typ publikacji :
Clinical Trial, Phase I; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Enzyme Replacement Therapy/*methods
Injections, Spinal/*methods
Mucopolysaccharidosis I/*drug therapy
Biomarkers, Pharmacological/cerebrospinal fluid ; Child, Preschool ; Female ; Glycosaminoglycans/analysis ; Glycosaminoglycans/cerebrospinal fluid ; Hematopoietic Stem Cell Transplantation ; Humans ; Infant ; Male ; Mucopolysaccharidosis I/physiopathology ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Autorzy :
Clarke LA; Department of Medical Genetics, B.C. Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
Giugliani R; Department of Genetics, Federal University of Rio Grande do Sul and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Guffon N; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Bron Cedex, France.
Jones SA; Manchester Centre for Genomic Medicine, Manchester University NHS Trust, Manchester, UK.
Keenan HA; Sanofi Genzyme, Cambridge, Massachusetts.
Munoz-Rojas MV; Sanofi Genzyme, Cambridge, Massachusetts.
Okuyama T; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan.
Viskochil D; University of Utah, Salt Lake City, Utah.
Whitley CB; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.; Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota.
Wijburg FA; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
Muenzer J; University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
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Źródło :
Clinical genetics [Clin Genet] 2019 Oct; Vol. 96 (4), pp. 281-289. Date of Electronic Publication: 2019 Jul 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Mutation*
Iduronidase/*genetics
Mucopolysaccharidosis I/*diagnosis
Mucopolysaccharidosis I/*genetics
Adolescent ; Adult ; Alleles ; Child ; Child, Preschool ; Female ; Genotype ; Global Health ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Mucopolysaccharidosis I/epidemiology ; Phenotype ; Registries ; Severity of Illness Index ; Young Adult
Czasopismo naukowe
Tytuł :
Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.
Autorzy :
Taghikhani M; Department of Clinical Biochemistry, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Khatami S; Department of Biochemistry, Pasteur Institute of Iran, Tehran, Iran.
Abdi M; Cellular and Molecular Research Center, Research Institute for Health Development, Kurdistan University of Medical Sciences, Sanandaj, Iran.; Department of Clinical Biochemistry, Faculty of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Iran.
Hakhamaneshi MS; Department of Clinical Biochemistry, Faculty of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Iran.
Alaei MR; Department of Pediatric, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Zamanfar D; Department of Pediatric, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
Vakili R; Department of Pediatrics, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
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Źródło :
Journal of clinical laboratory analysis [J Clin Lab Anal] 2019 Oct; Vol. 33 (8), pp. e22963. Date of Electronic Publication: 2019 Aug 06.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation, Missense*
Biomarkers/*analysis
Iduronidase/*genetics
Mucopolysaccharidosis I/*genetics
Adolescent ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Follow-Up Studies ; Genotype ; Humans ; Infant ; Male ; Mucopolysaccharidosis I/enzymology ; Mucopolysaccharidosis I/pathology ; Phenotype ; Prognosis
Czasopismo naukowe
Tytuł :
Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I.
Autorzy :
Gomez-Ospina N; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA. .
Scharenberg SG; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Mostrel N; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Bak RO; Department of Biomedicine, Aarhus University, DK-8000, Aarhus C., Denmark.; Aarhus Institute of Advanced Studies (AIAS), Aarhus University, DK-8000, Aarhus C., Denmark.
Mantri S; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Quadros RM; Mouse Genome Engineering Core Facility, Vice Chancellor for Research Office, University of Nebraska Medical Center, Omaha, NE, USA.
Gurumurthy CB; Mouse Genome Engineering Core Facility, Vice Chancellor for Research Office, University of Nebraska Medical Center, Omaha, NE, USA.; Department of Pharmacology and Experimental Neuroscience, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA.
Lee C; Department of Bioengineering, Rice University, Houston, TX, USA.
Bao G; Department of Bioengineering, Rice University, Houston, TX, USA.
Suarez CJ; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
Khan S; Nemours/ Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USA.
Sawamoto K; Nemours/ Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USA.
Tomatsu S; Nemours/ Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USA.
Raj N; Department of Radiation Oncology, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Attardi LD; Department of Radiation Oncology, Stanford University School of Medicine, Stanford, CA, 94305, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Aurelian L; Stanford University School of Medicine, Stanford, CA, 94305, USA.; University of Maryland School of Medicine, Baltimore, MD, 21201, USA.
Porteus MH; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA. .
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Źródło :
Nature communications [Nat Commun] 2019 Sep 06; Vol. 10 (1), pp. 4045. Date of Electronic Publication: 2019 Sep 06.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Human*
Gene Editing/*methods
Hematopoietic Stem Cell Transplantation/*methods
Hematopoietic Stem Cells/*metabolism
Iduronidase/*metabolism
Mucopolysaccharidosis I/*therapy
Animals ; Antigens, CD34/genetics ; Antigens, CD34/metabolism ; CRISPR-Cas Systems ; Genetic Therapy/methods ; Humans ; Iduronidase/genetics ; Mice ; Mice, Inbred NOD ; Mice, Knockout ; Mice, SCID ; Mucopolysaccharidosis I/genetics ; Mucopolysaccharidosis I/pathology ; NIH 3T3 Cells ; Phenotype ; Receptors, CCR5/genetics ; Receptors, CCR5/metabolism ; Transplantation, Heterologous
Czasopismo naukowe
Tytuł :
A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I.
Autorzy :
Li Y; Laboratory of Endocrinology and Metabolism, Department of Endocrinology and Metabolism and National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu 610041, People's Republic of China. , .
Tang X
Meng Y
Luo G
Yu X
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Źródło :
Journal of genetics [J Genet] 2019 Sep; Vol. 98.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Iduronidase/*genetics
Mucopolysaccharidosis I/*genetics
Asian Continental Ancestry Group ; Child ; Child, Preschool ; Codon, Nonsense ; Exons ; High-Throughput Nucleotide Sequencing ; Humans ; Iduronidase/blood ; Male ; Mucopolysaccharidosis I/blood ; Mucopolysaccharidosis I/enzymology ; Mutation, Missense ; Protein Domains/genetics ; Protein Structure, Tertiary/genetics
Czasopismo naukowe
Tytuł :
Cerebral spinal fluid cytology from a Doberman Pinscher.
Autorzy :
Vilander AC; Department of Microbiology, Immunology, and Pathology, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins, Colorado.
Giger U; Section of Medical Genetics (PennGen), University of Pennsylvania, Philadelphia, Pennsylvania.
Han S; Department of Microbiology, Immunology, and Pathology, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins, Colorado.
Wiest AN; Section of Medical Genetics (PennGen), University of Pennsylvania, Philadelphia, Pennsylvania.
Russell Moore A; Department of Microbiology, Immunology, and Pathology, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins, Colorado.
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Źródło :
Veterinary clinical pathology [Vet Clin Pathol] 2019 Sep; Vol. 48 (3), pp. 487-489. Date of Electronic Publication: 2019 May 06.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Dog Diseases/*cerebrospinal fluid
Mucopolysaccharidosis I/*veterinary
Animals ; Dog Diseases/pathology ; Dogs ; Male ; Mucopolysaccharidosis I/diagnosis ; Mucopolysaccharidosis I/pathology
Czasopismo naukowe
Tytuł :
Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis.
Autorzy :
Murgasova L; Department of Pediatrics and Adolescent Medicine, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic; Department of ENT, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.
Jurovcik M; Department of ENT, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.
Jesina P; Department of Pediatrics and Adolescent Medicine, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.
Malinova V; Department of Pediatrics and Adolescent Medicine, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.
Bloomfield M; Department of Immunology, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic; Department of Pediatrics, Thomayer's Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.
Zeman J; Department of Pediatrics and Adolescent Medicine, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.
Magner M; Department of Pediatrics and Adolescent Medicine, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic; Department of Pediatrics, Thomayer's Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic. Electronic address: .
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Źródło :
International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2020 Aug; Vol. 135, pp. 110137. Date of Electronic Publication: 2020 May 27.
Typ publikacji :
Journal Article
MeSH Terms :
Airway Obstruction/*etiology
Hearing Loss/*etiology
Mucopolysaccharidoses/*complications
Rhinitis/*etiology
Sinusitis/*etiology
Adolescent ; Age Factors ; Child ; Child, Preschool ; Chronic Disease ; Female ; Humans ; Infant ; Male ; Mucopolysaccharidoses/diagnosis ; Mucopolysaccharidosis I/complications ; Mucopolysaccharidosis I/diagnosis ; Mucopolysaccharidosis II/complications ; Mucopolysaccharidosis II/diagnosis ; Mucopolysaccharidosis III/complications ; Mucopolysaccharidosis III/diagnosis ; Mucopolysaccharidosis IV/complications ; Mucopolysaccharidosis IV/diagnosis ; Mucopolysaccharidosis VI/complications ; Mucopolysaccharidosis VI/diagnosis ; Otitis Media with Effusion/etiology ; Otorhinolaryngologic Surgical Procedures ; Retrospective Studies ; Young Adult
Czasopismo naukowe

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