المؤلفون: Wenping Li, Stephanie M. Cologna

المصدر: Mol Omics

مصطلحات موضوعية: Lysosomal Storage Diseases, Proteomics, Genetics, Humans, Lysosomes, Molecular Biology, Biochemistry, Biomarkers, Mass Spectrometry, Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b515f2f33472c03bc20640ebbd63420Test
https://pubmed.ncbi.nlm.nih.gov/35343995Test

المؤلفون: Hiroki Tanaka, Daisuke Tsuji, Ryosuke Watanabe, Yukiya Ohnishi, Shindai Kitaguchi, Ryuto Nakae, Hiromi Teramoto, Jun Tsukimoto, Yuto Horii, Kohji Itoh

المصدر: Journal of Inherited Metabolic Disease. 45:1191-1202

مصطلحات موضوعية: Lysosomal Storage Diseases, Mice, Autophagy, Genetics, Animals, Lysosomes, SNARE Proteins, Endocytosis, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6ba4f2396644c6f080f57a44c2a20a4Test
https://doi.org/10.1002/jimd.12558Test

المؤلفون: Gregory A, Grabowski, Pramod K, Mistry

المصدر: Molecular Genetics and Metabolism. 137:81-91

مصطلحات موضوعية: Lysosomal Storage Diseases, Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Humans, Fabry Disease, Mucopolysaccharidoses, Molecular Biology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05a48a5b4f0723f995954f59e48c0f94Test
https://doi.org/10.1016/j.ymgme.2022.07.014Test

المؤلفون: Lauren, Jimenez-Kurlander, Christine N, Duncan

المصدر: Hematology/Oncology Clinics of North America. 36:853-864

مصطلحات موضوعية: Lysosomal Storage Diseases, Oncology, Hematopoietic Stem Cell Transplantation, Humans, Genetic Therapy, Hematology, Nervous System Diseases, Child, Hematopoietic Stem Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fa649ea4ca337e3b9862bfaf2e45c40Test
https://doi.org/10.1016/j.hoc.2022.05.003Test

المؤلفون: Gaijie, Li, Liping, Tian, Yuanfang, Guo, Yulin, Li, Meng, Sun, Hui, Zou

المصدر: Zhejiang Da Xue Xue Bao Yi Xue Ban

مصطلحات موضوعية: Glycogen Storage Disease Type II, Infant, Newborn, Infant, alpha-Glucosidases, Galactosylceramides, General Medicine, Leukodystrophy, Globoid Cell, Lysosomal Storage Diseases, Iduronidase, Neonatal Screening, Sphingomyelin Phosphodiesterase, Tandem Mass Spectrometry, alpha-Galactosidase, Humans, Fabry Disease, Glucosylceramidase, Child, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::992f421e57e0f9d6c7292e4f4d3581dfTest
https://doi.org/10.3724/zdxbyxb-2022-0095Test

المؤلفون: Valeria Graceffa

المصدر: Current Gene Therapy. 22:191-213

مصطلحات موضوعية: business.industry, Genetic enhancement, Cell- and Tissue-Based Therapy, Gene Transfer Techniques, Genetic Therapy, Transfection, Gene delivery, medicine.disease, Bioinformatics, Immune tolerance, Lysosomal Storage Diseases, Transplantation, Immune system, Graft-versus-host disease, Drug Discovery, Genetics, Humans, Molecular Medicine, Medicine, Stem cell, Lysosomes, business, Molecular Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54efbf3b46034f44317362df3035c90fTest
https://doi.org/10.2174/1566523221666210728141924Test

المؤلفون: Alexei Gorelik, Katalin Illes, Khanh Huy Bui, Bhushan Nagar

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 119(33)

مصطلحات موضوعية: Lysosomal Storage Diseases, Multidisciplinary, Mannosephosphates, Mucolipidoses, Catalytic Domain, Humans, Transferases (Other Substituted Phosphate Groups), Lysosomes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e6576bfa0883dd76bb33319796a341eTest
https://pubmed.ncbi.nlm.nih.gov/35939698Test

المؤلفون: Melike Ersoy, Hamide Pişkinpaşa

المصدر: Journal of Pediatric Endocrinology and Metabolism. 35:519-527

مصطلحات موضوعية: Lysosomal Storage Diseases, Gaucher Disease, Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Quality of Life, Fabry Disease, Humans, Enzyme Replacement Therapy, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf60621a6b200eb9a146c79500e9f0fTest
https://doi.org/10.1515/jpem-2021-0664Test

المؤلفون: Marchetti, Marialaura, Faggiano, Serena, Mozzarelli, Andrea

المصدر: Current medicinal chemistry 29 (2022): 489–525. doi:10.2174/0929867328666210526144654
info:cnr-pdr/source/autori:Marchetti, Marialaura and Faggiano, Serena and Mozzarelli, Andrea/titolo:Enzyme Replacement Therapy for Genetic Disorders Associated with Enzyme Deficiency/doi:10.2174%2F0929867328666210526144654/rivista:Current medicinal chemistry/anno:2022/pagina_da:489/pagina_a:525/intervallo_pagine:489–525/volume:29

مصطلحات موضوعية: HUMAN BETA-GLUCURONIDASE, medicine.medical_treatment, Mannose 6-phosphate, cell internalization, Bioinformatics, recombinant proteins, metabolic diseases, Biochemistry, mannose 6-phosphate, lysosomal storage disorders, chemistry.chemical_compound, genetic disease, Lysosome, Drug Discovery, medicine, TYPE-1 GAUCHER-DISEASE, Animals, Humans, CRISPR, biologics, Enzyme Replacement Therapy, Enzyme deficiency, Gene, Pharmacology, chemistry.chemical_classification, TUMOR-LYSIS-SYNDROME, LYSOSOMAL ALPHA-MANNOSIDASE, Cas9, business.industry, Organic Chemistry, Enzyme replacement therapy, Stem-cell therapy, BONE-MARROW-TRANSPLANTATION, Lysosomal Storage Diseases, MUCOPOLYSACCHARIDOSIS TYPE-II, medicine.anatomical_structure, Enzyme, chemistry, Blood-Brain Barrier, ADENOSINE-DEAMINASE DEFICIENCY, PHENYLALANINE AMMONIA-LYASE, Molecular Medicine, ONSET METACHROMATIC LEUKODYSTROPHY, LESCH-NYHAN-DISEASE, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4ddd2b9510c1cf7b8c41d8201bdcfb0Test
https://doi.org/10.2174/0929867328666210526144654Test

المؤلفون: Dardis, A, Michelakakis, H, Rozenfeld, P, Fumic, K, Wagner, J, Pavan, E, Fuller, M, Revel-Vilk, S, Hughes, D, Cox, T, Aerts, J, International Working Group Of Gaucher Disease (IWGGD)

المساهمون: Dardis, A [0000-0001-7024-8181], Apollo - University of Cambridge Repository

مصطلحات موضوعية: Genetic testing, Gaucher Disease, Clinical Laboratory Techniques, Patient-Centered Care, Lysosomal storage diseases, Humans, Glucosylceramidase, Review, Enzyme activity, Glucosylceramides, Biomarkers

وصف الملف: application/pdf; text/xml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d183ae2eb5bf17269041c88a4fc54f2fTest
https://www.repository.cam.ac.uk/handle/1810/345622Test