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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 06/2017, Volume 34, Issue 3, p. 347
Journal Article
Zhonghua er ke za zhi = Chinese journal of pediatrics, ISSN 0578-1310, 04/2011, Volume 49, Issue 4, p. 306
Mucopolysaccharidosis type I (MPS I; MIM# 252800) is an autosomal recessive disease that results from the deficiency in the lysosomal enzyme... 
Humans | Prenatal Diagnosis | Child, Preschool | Genotype | Male | Pregnancy | Homozygote | Mucopolysaccharidosis I - diagnosis | Phenotype | DNA Mutational Analysis | Female | Heterozygote | Mucopolysaccharidosis I - genetics | Mutation | Iduronidase - genetics
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 04/2011, Volume 28, Issue 2, p. 147
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 04/2007, Volume 24, Issue 2, p. 136
To investigate the molecular genetic mechanism of a Chinese patient with mucopolysaccharidosis type I (MPS I). PCR-sequencing analysis was applied to detect... 
Humans | Exons - genetics | Male | Codon, Nonsense | Mutation, Missense | Polymorphism, Genetic | Polymorphism, Restriction Fragment Length | DNA Mutational Analysis | Pedigree | Base Sequence | Adolescent | Polymerase Chain Reaction | Female | Mucopolysaccharidosis I - genetics | Mutation | Iduronidase - genetics
Journal Article
Blood, ISSN 0006-4971, 10/2015, Volume 126, Issue 15, pp. 1777 - 1784
Journal Article
Human Gene Therapy, ISSN 1043-0342, 06/2017, Volume 28, Issue 6, pp. 45 - 463
The infusion of healthy stem cells into a patient—termed “stem-cell therapy”—has shown great promise for the treatment of genetic and non-genetic diseases,... 
Review Article | gene therapy | AAV vectors | ITR, stem cell | stem cell therapy | MEDICINE, RESEARCH & EXPERIMENTAL | ITR | DNA-DAMAGE RESPONSE | HUMAN PARVOVIRUS B19 | MEDIATED GENE-EXPRESSION | MESENCHYMAL STEM | HEMATOPOIETIC PROGENITOR CELLS | stem cell | TRANSGENE EXPRESSION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | IN-VIVO | GENETICS & HEREDITY | TOLL-LIKE RECEPTORS | CENTRAL-NERVOUS-SYSTEM | INTRACELLULAR TRAFFICKING | Genetic Therapy - ethics | Parkinson Disease - therapy | Cell- and Tissue-Based Therapy - methods | Dependovirus - genetics | Immunologic Deficiency Syndromes - pathology | Stem Cells - immunology | Humans | Transplantation, Autologous | Stem Cells - cytology | Stem Cells - metabolism | Anemia, Aplastic - therapy | Mucopolysaccharidosis I - therapy | Immunologic Deficiency Syndromes - immunology | Transduction, Genetic - methods | Anemia, Aplastic - genetics | Anemia, Aplastic - pathology | Immunologic Deficiency Syndromes - therapy | Parkinson Disease - pathology | Dependovirus - metabolism | Genetic Vectors - chemistry | Mucopolysaccharidosis I - pathology | Parkinson Disease - immunology | Genetic Vectors - metabolism | Multiple Sclerosis - genetics | Parkinson Disease - genetics | Multiple Sclerosis - therapy | Mucopolysaccharidosis I - immunology | Stem Cell Transplantation - methods | Immunologic Deficiency Syndromes - genetics | Multiple Sclerosis - immunology | Multiple Sclerosis - pathology | Mucopolysaccharidosis I - genetics | Transduction, Genetic - standards | Anemia, Aplastic - immunology | Genetic Therapy - methods | Cell culture | Graft-versus-host reaction | Therapy | Multiple sclerosis | Parkinson's disease | Disease | Toxicity | Stem cell transplantation | Viruses | Lymphocytes T | Mucopolysaccharidosis | Infusion | Neurotoxicity | Immunology | Lymphocytes | Movement disorders | Expression vectors | Autografts | Neurodegenerative diseases | Gene transfer | Anemia | Therapeutic applications | Medical treatment | Immunodeficiency | Aplastic anemia | Vectors | Nucleic acids | Patients | Stem cells | Review
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 02/2016, Volume 6, Issue 1, p. 22131
Journal Article
Blood, ISSN 0006-4971, 01/2011, Volume 117, Issue 3, pp. 839 - 847
Mucopolysaccharidosis type I (MPS IH; Hurler syndrome) is a congenital deficiency of alpha-L-iduronidase, leading to lysosomal storage of glycosaminoglycans... 
REPAIR | THERAPY | ABNORMALITIES | MICROGLIA | BONE-MARROW-TRANSPLANTATION | DISEASE | CENTRAL-NERVOUS-SYSTEM | HEPARAN-SULFATE | GENERATION | MICE | HEMATOLOGY | Homeodomain Proteins - metabolism | Humans | Child, Preschool | Infant | Male | Mesoderm - cytology | Promoter Regions, Genetic - genetics | SOXB1 Transcription Factors - metabolism | Octamer Transcription Factor-3 - genetics | DNA Methylation | Transfection | SOXB1 Transcription Factors - genetics | Kruppel-Like Transcription Factors - metabolism | HEK293 Cells | Cell Differentiation | Induced Pluripotent Stem Cells - cytology | Iduronidase - genetics | Induced Pluripotent Stem Cells - metabolism | Iduronidase - metabolism | Mucopolysaccharidosis I - metabolism | Nanog Homeobox Protein | Mucopolysaccharidosis I - pathology | Bone Marrow Cells - cytology | Stromal Cells - metabolism | Cells, Cultured | Keratinocytes - cytology | Proto-Oncogene Proteins c-myc - metabolism | Homeodomain Proteins - genetics | Hematopoietic System - cytology | Animals | Hematopoietic System - metabolism | Keratinocytes - metabolism | Octamer Transcription Factor-3 - metabolism | Mucopolysaccharidosis I - genetics | Mesoderm - metabolism | Mice | Proto-Oncogene Proteins c-myc - genetics | Kruppel-Like Transcription Factors - genetics | Bone Marrow Cells - metabolism | Stromal Cells - cytology | Hematopoiesis and Stem Cells
Journal Article
Journal Article
Molecular Therapy, ISSN 1525-0016, 08/2015, Volume 23, Issue 8, pp. 1298 - 1307
The potential host immune response to a nonself protein poses a fundamental challenge for gene therapies targeting recessive diseases. We demonstrate in both... 
MEDICINE, RESEARCH & EXPERIMENTAL | NEUTRALIZING ANTIBODIES | BONE-MARROW-TRANSPLANTATION |