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BMC medical genetics, ISSN 1471-2350, 2018, Volume 19, Issue 1, pp. 180 - 2
... in relation with those of Japan or China in patients with mucopolysaccharidosis I” * Edina Poletto1, 2Email authorView ORCID ID profile, * Ursula Matte1, 2... 
C.613-617dupTGCTC | IDUA | 704ins5 | IDENTIFICATION | C.613_617dupTGCTC | GENETICS & HEREDITY | Mucopolysaccharidosis I | Mutation | China | Humans | Japan | Iduronidase - genetics | Mucopolysaccharidosis | Genomes | L-Iduronidase | Databases | Nomenclature
Journal Article
PloS one, ISSN 1932-6203, 2018, Volume 13, Issue 11, p. e0205962
Journal Article
Genetics and molecular biology, ISSN 1678-4685, 2019, Volume 42, Issue 1 suppl 1, pp. 261 - 285
Abstract Lysosomal storage diseases (LSDs) are inherited conditions caused by impaired lysosomal function and consequent substrate storage, leading to a range... 
cardiovascular disease | gene therapy | animal models | Lysosomal storage disease | heart
Journal Article
PloS one, ISSN 1932-6203, 2015, Volume 10, Issue 2, p. e0117271
Journal Article
PloS one, ISSN 1932-6203, 2014, Volume 9, Issue 4, p. e93271
Journal Article
Pharmaceutical research, ISSN 1573-904X, 2014, Volume 32, Issue 3, pp. 941 - 954
... Stanisçuaski Guterres & Roberto Giugliani & Ursula Matte & Adriana Raffin Pohlmann Received: 17 May 2014 /Accepted: 29 August 2014 /Published online: 11 September 2014... 
Biochemistry, general | Biomedical Engineering | mucopolysaccharidosis I | Biomedicine | enzyme replacement therapy | laronidase | Pharmacy | surface functionalization | Medical Law | multiple-wall lipid-core nanocapsules | Pharmacology/Toxicology | PROTEIN | ASSAY | ALPHA-L-IDURONIDASE | MICROPARTICLES | CHEMISTRY, MULTIDISCIPLINARY | DELIVERY | INDOMETHACIN-LOADED NANOCAPSULES | NANOPARTICLES | GROWTH | PHARMACOLOGY & PHARMACY | LIPOSOMES | Injections, Intravenous | Area Under Curve | Nanocapsules | Metabolic Clearance Rate | Mucopolysaccharidosis I - enzymology | Enzyme Replacement Therapy - adverse effects | Iduronidase - chemistry | Tissue Distribution | Lipids - chemistry | Biological Transport | Nanomedicine | Iduronidase - genetics | Fibroblasts - metabolism | Iduronidase - administration & dosage | Cell Survival - drug effects | Iduronidase - pharmacokinetics | Cells, Cultured | Iduronidase - toxicity | Technology, Pharmaceutical - methods | Fibroblasts - pathology | Chemistry, Pharmaceutical | Mice, Knockout | Particle Size | Animals | Fibroblasts - drug effects | Mucopolysaccharidosis I - drug therapy | Phosphates | Enzymes | Care and treatment | Hormone therapy | Analysis | Medical genetics | Mucopolysaccharidosis | Sugars | Monosaccharides | Nanoparticles | Genetic disorders | Pharmaceutical sciences
Journal Article