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1. IDUA gene mutation analysis and prenatal diagnosis of two families affected with mucopolysaccharidosis type I
by Yang, Xinyu and Mei, Shiyue and Kong, Xiangdong and Zhao, Zhenhua and Cai, Aojie and Yao, Jiameng and Li, Yiying and Qin, Zhi
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
To analyze mutations of IDUA gene in two pedigrees affected with mucopolysaccharidosis type I and provide prenatal diagnosis for them. The 14 exons of the IDUA... 
Sequence Deletion | Fetal Diseases - diagnosis | Humans | Prenatal Diagnosis | Asian Continental Ancestry Group - genetics | Child, Preschool | Molecular Sequence Data | Male | Fetal Diseases - genetics | Pregnancy | Mucopolysaccharidosis I - diagnosis | Mucopolysaccharidosis I - embryology | DNA Mutational Analysis | Pedigree | Base Sequence | China | Adult | Female | Heterozygote | Mucopolysaccharidosis I - genetics | Child | Iduronidase - genetics
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2. Glaucoma and mucopolysaccharidosis type I: Report of two children
by Hamma, A and Bousalah, M
Journal francais d'ophtalmologie, 11/2016, Volume 39, Issue 9, p. e259
Mucopolysaccharidosis I - pathology | Humans | Child, Preschool | Glaucoma - complications | Mucopolysaccharidosis I - complications | Corneal Opacity - pathology | Female | Mucopolysaccharidosis I - genetics | Consanguinity | Corneal Opacity - complications | Glaucoma - pathology | Glaucoma - genetics | Child | Siblings
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3. Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I
by Wang, Xin-Ning and Wei, Min and Shi, Hui-Ping and Qiu, Zheng-Qing and Yao, Feng-Xia and Meng, Yan and Zhang, Wei-Min
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
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4. Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type
by WANG, Xin-ning and SHI, Hui-ping and ZHANG, Wei-min and QIU, Zheng-qing and MENG, Yan and YAO, Feng-xia and WEI, Min
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
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease resulting from the deficiency in the lysosomal enzyme alpha-L-iduronidase (IDUA). The... 
Humans | Child, Preschool | Molecular Sequence Data | Male | Mucopolysaccharidosis I - enzymology | DNA Mutational Analysis - methods | Polymerase Chain Reaction - methods | Young Adult | Mucopolysaccharidosis I - diagnosis | Base Sequence | China | Adolescent | Adult | Female | Mucopolysaccharidosis I - genetics | Polymorphism, Single Nucleotide | Mutation | Child | Sequence Analysis, DNA - methods | Iduronidase - genetics | Iduronidase - deficiency
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5. A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I
by Dou, Wei and Peng, Chao and Zheng, Jun-ke and Gu, Xue-fan
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
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6. Full Text What opportunities are afforded by enzyme replacement therapy
by Huppertz, H I
Zeitschrift fur Rheumatologie, ISSN 0340-1855, 02/2006, Volume 65, Issue 1, p. 44
Gaucher Disease - genetics | Fabry Disease - genetics | Enzymes - administration & dosage | Enzymes - genetics | Humans | Mucopolysaccharidosis I - drug therapy | Mucopolysaccharidosis I - genetics | Fabry Disease - drug therapy | Gaucher Disease - drug therapy | Genetic Therapy - methods
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7. Full Text In vivo genome editing of the albumin locus as a platform for protein replacement therapy
by Sharma, Rajiv and Anguela, Xavier M and Doyon, Yannick and Wechsler, Thomas and DeKelver, Russell C and Sproul, Scott and Paschon, David E and Miller, Jeffrey C and Davidson, Robert J and Shivak, David and Zhou, Shangzhen and Rieders, Julianne and Gregory, Philip D and Holmes, Michael C and Rebar, Edward J and High, Katherine A
Blood, ISSN 0006-4971, 10/2015, Volume 126, Issue 15, pp. 1777 - 1784
Site-specific genome editing provides a promising approach for achieving long-term, stable therapeutic gene expression. Genome editing has been successfully... 
SIGNAL | SEROTYPE | ADENOASSOCIATED VIRUS | GENE-TRANSFER | HEMATOLOGY | ZINC-FINGER NUCLEASES | EXPRESSION | T-CELLS | Hemophilia B - therapy | Dependovirus - genetics | Genetic Therapy | Transgenes - physiology | Genetic Vectors - administration & dosage | Fabry Disease - genetics | RNA Editing | Humans | Lysosomes - enzymology | Gaucher Disease - therapy | Promoter Regions, Genetic - genetics | Mucopolysaccharidosis I - therapy | Mucopolysaccharidosis II - therapy | Mucopolysaccharidosis II - genetics | Real-Time Polymerase Chain Reaction | Enzyme Replacement Therapy | Zinc Fingers | Albumins - metabolism | Liver - metabolism | Mice, Inbred C57BL | RNA, Messenger - genetics | Factor VIII - genetics | Factor IX - genetics | Hemophilia B - genetics | Hemophilia A - therapy | Reverse Transcriptase Polymerase Chain Reaction | Animals | Gaucher Disease - genetics | Endonucleases | Mucopolysaccharidosis I - genetics | Hemophilia A - genetics | High-Throughput Nucleotide Sequencing | Mice | Fabry Disease - therapy | Genome | Albumins - genetics | Gene Therapy
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8. Full Text The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel
by Zlotogora, Joël
Human Genetics, ISSN 0340-6717, 11/2010, Volume 128, Issue 5, pp. 473 - 479
The Israeli population mainly includes Jews, Muslim and Christian Arabs, and Druze In the last decade, data on genetic diseases present in the population have... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | POPULATION | RETARDATION | COMMUNITY | FAMILIES | GENETICS & HEREDITY | DISORDERS | CONSANGUINITY | FREQUENT GENETIC-DISEASES | SMALL GEOGRAPHIC AREA | MULTIPLE MUTATIONS | INFANTILE METACHROMATIC LEUKODYSTROPHY | Maple Syrup Urine Disease - genetics | Humans | Genetic Diseases, Inborn - genetics | Hypoparathyroidism - genetics | Christianity | Genetic Diseases, Inborn - epidemiology | Genes, Recessive | Intellectual Disability - genetics | Epidermolysis Bullosa - genetics | Leukodystrophy, Metachromatic - genetics | Islam | Israel - epidemiology | Xanthomatosis, Cerebrotendinous - genetics | Albinism - genetics | Arabs - genetics | Ataxia Telangiectasia - genetics | Bardet-Biedl Syndrome - genetics | Mucopolysaccharidosis I - genetics | Leukodystrophy, Globoid Cell - genetics | Mutation | Druses | Deafness | Genetic disorders
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9. Full Text Adeno-Associated Virus Vectors and Stem Cells: Friends or Foes?
by Brown, Nolan and Song, Liujiang and Kollu, Nageswara R and Hirsch, Matthew L
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
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10. Full Text Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression
by Keeling, Kim M and Wang, Dan and Dai, Yanying and Murugesan, Srinivasan and Chenna, Balachandra and Clark, Jeremy and Belakhov, Valery and Kandasamy, Jeyakumar and Velu, Sadanandan E and Baasov, Timor and Bedwell, David M
PLoS ONE, ISSN 1932-6203, 04/2013, Volume 8, Issue 4, p. e60478
Nonsense suppression therapy is an approach to treat genetic diseases caused by nonsense mutations. This therapeutic strategy pharmacologically suppresses... 
ENZYME-KINETICS | GENE | PHOSPHORYLATION | CYSTIC-FIBROSIS PATIENTS | PTC124 TREATMENT | NMD FACTORS | MULTIDISCIPLINARY SCIENCES | MUTATIONS | EXON JUNCTION COMPLEX | ALPHA-L-IDURONIDASE | TERMINATION | Nonsense Mediated mRNA Decay | Animals | RNA, Messenger - genetics | Cells, Cultured | Mucopolysaccharidosis I - genetics | Mice | Disease Models, Animal | Enzymes | Glycosaminoglycans | Messenger RNA | Codon | Aminoglycosides | Genetic aspects | Sulfates | Health aspects | Genetic translation | Drugs | Brain | Therapy | Phosphorylation | Disease | Transcription | Laboratories | Gentamicin | Mucopolysaccharidosis | Kinases | Phosphatase | Tissues | Proteins | Efficiency | Translation termination | Attenuation | Caffeine | Heparan sulfate | Genetic disorders | mRNA turnover | Abundance | Pharmacology | Nonsense-mediated mRNA decay | Gene expression | L-Iduronidase | Decay | In vivo methods and tests | Mutation | Sulfate | Codons
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11. Full Text AAV Gene Therapy for MPS1-associated Corneal Blindness
by Vance, Melisa and Llanga, Telmo and Bennett, Will and Woodard, Kenton and Murlidharan, Giridhar and Chungfat, Neil and Asokan, Aravind and Gilger, Brian and Kurtzberg, Joanne and Samulski, R. Jude and Hirsch, Matthew L
Scientific Reports, ISSN 2045-2322, 02/2016, Volume 6, Issue 1, p. 22131
Although cord blood transplantation has significantly extended the lifespan of mucopolysaccharidosis type 1 (MPS1) patients, over 95% manifest cornea clouding... 
MUCOPOLYSACCHARIDOSIS TYPE-I | ADENOASSOCIATED VIRUS | STORAGE DISEASES | BONE-MARROW-TRANSPLANTATION | MULTIDISCIPLINARY SCIENCES | CORD BLOOD | STEM-CELL | OUTCOMES | MODEL | CHILDREN | VECTOR | Corneal Diseases - therapy | Dependovirus - genetics | Humans | Apoptosis - genetics | Mucopolysaccharidosis I - enzymology | Green Fluorescent Proteins - genetics | Corneal Diseases - genetics | Transfection - methods | Mucopolysaccharidosis I - therapy | HEK293 Cells | Cornea - pathology | Blindness - therapy | Iduronidase - genetics | Organ Culture Techniques | Fibroblasts - metabolism | Corneal Diseases - enzymology | Green Fluorescent Proteins - metabolism | Iduronidase - metabolism | Cells, Cultured | Blindness - genetics | Blotting, Western | Genetic Vectors - genetics | Cornea - metabolism | Microscopy, Confocal | Blindness - enzymology | Mucopolysaccharidosis I - genetics | Fibroblasts - cytology | Genetic Therapy - methods | Explants | Cornea | Transplants & implants | Mucopolysaccharidosis | Transplantation | Graft rejection | L-Iduronidase | Life span | Cord blood | Blindness | Fibroblasts | Children | Gene therapy | Apoptosis
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12. Full Text Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome)
by Tolar, Jakub and Park, In-Hyun and Xia, Lily and Lees, Chris J and Peacock, Brandon and Webber, Beau and McElmurry, Ron T and Eide, Cindy R and Orchard, Paul J and Kyba, Michael and Osborn, Mark J and Lund, Troy C and Wagner, John E and Daley, George Q and Blazar, Bruce R
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
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13. Full Text Correction of Clinical Manifestations of Canine Mucopolysaccharidosis I with Neonatal Retroviral Vector Gene Therapy
by Traas, Anne M and Wang, Ping and Ma, Xiucui and Tittiger, Mindy and Schaller, Laura and O'donnell, Patricia and Sleeper, Meg M and Vite, Charles and Herati, Ramin and Aguirre, Gustavo D and Haskins, Mark and Ponder, Katherine P
Molecular Therapy, ISSN 1525-0016, 08/2007, Volume 15, Issue 8, pp. 1423 - 1431
Mucopolysaccharidosis I (MPS I) (Hurler syndrome) is due to deficient - -iduronidase (IDUA) activity and is the most common of the MPS disorders. Neonatal MPS... 
LONG-TERM | MEDICINE, RESEARCH & EXPERIMENTAL | HURLER-SYNDROME | IMMUNE-RESPONSE | VII DOGS | BONE-MARROW-TRANSPLANTATION | LYSOSOMAL STORAGE | FOLLOW-UP | ALPHA-L-IDURONIDASE | MPS-I | ENZYME-REPLACEMENT-THERAPY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | Animals, Newborn | Genetic Therapy | Iduronidase - metabolism | Nervous System Diseases - enzymology | Mucopolysaccharidosis I - pathology | Humans | Lysosomes - enzymology | Nervous System Diseases - genetics | Genetic Vectors - genetics | RNA - genetics | DNA - genetics | Animals | Retroviridae - genetics | Mucopolysaccharidosis I - therapy | Dogs | Brain - pathology | Mucopolysaccharidosis I - genetics | Iduronidase - genetics | Iduronidase - deficiency | Nervous System Diseases - pathology
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14. Hurler syndrome(MPS IH), Scheie syndrome(MPS IS)
by Matsushita, Y and Kuroiwa, Y
Ryoikibetsu shokogun shirizu, 2000, Issue 29 Pt 4, p. 460
Diagnosis, Differential | Prognosis | Humans | Mucopolysaccharidosis I - physiopathology | Corneal Opacity - etiology | Mucopolysaccharidosis I - genetics | Intellectual Disability - etiology | Iduronidase - genetics
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15. Full Text Repairing faulty genes by aminoglycosides: Development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations
by Nudelman, Igor and Glikin, Dana and Smolkin, Boris and Hainrichson, Mariana and Belakhov, Valery and Baasov, Timor
Bioorganic & Medicinal Chemistry, ISSN 0968-0896, 2010, Volume 18, Issue 11, pp. 3735 - 3746
Introduction of ( )-6′-methyl group of the aminoglycoside G418 onto the recent lead NB54, lead to the development of the new compound NB84 exhibiting... 
Aminoglycosides | Translational therapy | Cystic fibrosis | Genetic diseases | Nonsense mutations | ANTIBIOTICS | CHEMISTRY, MEDICINAL | CFTR FUNCTION | BIOCHEMISTRY & MOLECULAR BIOLOGY | HAILEY-HAILEY-DISEASE | CHEMISTRY, ORGANIC | READ-THROUGH | RIBOSOMAL-RNA | IN-VITRO | PREMATURE STOP MUTATIONS | STRUCTURAL BASIS | RAY CRYSTAL-STRUCTURES | TERMINATION CODONS | Gentamicins - chemistry | Muscular Dystrophy, Duchenne - drug therapy | Humans | Genetic Diseases, Inborn - genetics | Codon, Nonsense - drug effects | Trisaccharides - chemical synthesis | Usher Syndromes - drug therapy | Genetic Techniques | Trisaccharides - pharmacology | Animals | Usher Syndromes - genetics | Cystic Fibrosis - genetics | Mucopolysaccharidosis I - drug therapy | Drug Design | Trisaccharides - therapeutic use | Mucopolysaccharidosis I - genetics | Muscular Dystrophy, Duchenne - genetics | Aminoglycosides - pharmacology | Aminoglycosides - chemical synthesis | Cystic Fibrosis - drug therapy | Genetic Diseases, Inborn - drug therapy | Aminoglycosides - therapeutic use | Index Medicus
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16. Full Text Lysosomal storage disease: Gene therapy on both sides of the blood–brain barrier
by Aronovich, Elena L and Hackett, Perry B
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2015, Volume 114, Issue 2, pp. 83 - 93
Most lysosomal storage disorders affect the nervous system as well as other tissues and organs of the body. Previously, the complexities of these diseases,... 
CNS | Mucopolysaccharidosis | Transcytosis | Neurologic | Behavior | Sleeping Beauty transposon | Sleeping beauty transposon | Genetic Therapy | Lysosomal Storage Diseases - therapy | Mucopolysaccharidosis III - genetics | Humans | Lysosomes - genetics | Lysosomal Storage Diseases - genetics | Animals | Mucopolysaccharidosis I - therapy | Mucopolysaccharidosis III - therapy | Mucopolysaccharidosis I - genetics | Genetic Vectors | Blood-Brain Barrier | Disease Models, Animal | Nervous system diseases | Gene therapy | Genes | Analysis | mucopolysaccharidosis | behavior | neurologic | transcytosis
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17. Full Text Neonatal Systemic AAV Induces Tolerance to CNS Gene Therapy in MPS I Dogs and Nonhuman Primates
by Hinderer, Christian and Bell, Peter and Louboutin, Jean-Pierre and Zhu, Yanqing and Yu, Hongwei and Lin, Gloria and Choa, Ruth and Gurda, Brittney L and Bagel, Jessica and O'Donnell, Patricia and Sikora, Tracey and Ruane, Therese and Wang, Ping and Tarantal, Alice F and Casal, Margret L and Haskins, Mark E and Wilson, James M
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 |