المؤلفون: Tara Gholamian, Harpreet Chhina, Sylvia Stockler, Anthony Cooper

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: Morquio B disease, orthopedics, case report, MBD, mucopolysaccharidosis IV type B, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1285414/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/affc43fc215842b4a1dbc57e97cadb74

المؤلفون: Wang, Raymond Y, Rudser, Kyle D, Dengel, Donald R, Evanoff, Nicholas, Steinberger, Julia, Movsesyan, Nina, Garrett, Robert, Christensen, Katherine, Boylan, Deborah, Braddock, Stephen R, Shinawi, Marwan, Gan, Qi, Montaño, Adriana M

المصدر: Orphanet Journal of Rare Diseases. 15(1)

مصطلحات موضوعية: Rare Diseases, Heart Disease, Clinical Research, Cardiovascular, Good Health and Well Being, Carotid Intima-Media Thickness, Cross-Sectional Studies, Elasticity, Humans, Mucopolysaccharidosis IV, Prospective Studies, Morquio A disease, Mucopolysaccharidosis IVA, Cardiovascular disease, Carotid ultrasound, Intima media thickness, Other Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6fz8j4pm
https://escholarship.org/content/qt6fz8j4pm/qt6fz8j4pm.pdf

المؤلفون: Raymond Y. Wang, Kyle D. Rudser, Donald R. Dengel, Nicholas Evanoff, Julia Steinberger, Nina Movsesyan, Robert Garrett, Katherine Christensen, Deborah Boylan, Stephen R. Braddock, Marwan Shinawi, Qi Gan, Adriana M. Montaño

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Morquio A disease, Mucopolysaccharidosis IVA, Cardiovascular disease, Carotid ultrasound, Intima media thickness, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-1331-y; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/86c21a6f386d4ecdb984bab4aa309028

المؤلفون: ELÇİOĞLU, HURİYE NURSEL

المساهمون: Tebani, Abdellah, Sudrie-Arnaud, Benedicte, Dabaj, Ivana, Torre, Stephanie, Domitille, Laur, Snanoudj, Sarah, Heron, Benedicte, Levade, Thierry, Caillaud, Catherine, Vergnaud, Sabrina, Saugier-Veber, Pascale, Coutant, Sophie, Dranguet, Helene, Froissart, Roseline, Al Khouri, Majed, Alembik, Yves, Baruteau, Julien, Arnoux, Jean-Baptiste, Brassier, Anais, Brehin, Anne-Claire, Busa, Tiffany, Cano, Aline, Chabrol, Brigitte, Coubes, Christine, Desguerre, Isabelle, Doco-Fenzy, Martine, Drenou, Bernard, Elcioglu, Nursel H., Elsayed, Solaf, Fouilhoux, Alain, Poirsier, Celine, Goldenberg, Alice, Jouvencel, Philippe, Kuster, Alice, Labarthe, Francois, Lazaro, Leila, Pichard, Samia, Rivera, Serge, Roche, Sandrine, Roggerone, Stephanie, Roubertie, Agathe, Sigaudy, Sabine, Spodenkiewicz, Marta, Tardieu, Marine, Vanhulle, Catherine, Marret, Stephane, Bekri, Soumeya

مصطلحات موضوعية: brain damage, chronic, brain diseases, metabolic, central nervous system diseases, genomics, MORQUIO B DISEASE, ELASTIN-BINDING PROTEIN, GM1 GANGLIOSIDOSIS, GENE-MUTATIONS, IMPAIRED ELASTOGENESIS, GM1-GANGLIOSIDOSIS, FIBROBLASTS, POLYMORPHISM, EXPRESSION, ADULTS

وصف الملف: application/pdf

Relation: JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11424/243833; WOS:000728621300001

الاتاحة: https://hdl.handle.net/11424/243833
https://doi.org/10.1136/jmedgenet-2020-107510

المؤلفون: Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: GALNS, Morquio a disease, Mucopolysaccharidosis IVA, Deep intronic mutations, mRNA defects, Whole gene sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0694-6; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/dc37d65579c440fe8a8fdf055c411622

المؤلفون: Dong-Kyu Jin, Sung Yoon Cho

المصدر: Journal of Genetic Medicine. 18:16-23

مصطلحات موضوعية: GLB1, business.industry, Morquio-B Disease, GM1 Gangliosidosis, Immunology, Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::db2c39140ef7bfb8e049c43398b54472
https://doi.org/10.5734/jgm.2021.18.1.16

المؤلفون: Diana Carolina Cárdenas Poveda, Deissy Lorena Florez Duarte, Alejandra Rizo Arévalo, Mayerli Andrea Prado Rivera, Nolly Nataly Castañeda Ibáñez, Laura Marcela Figueroa Rodríguez

المصدر: Psychologia. Avances de la Disciplina, Volume: 14, Issue: 1, Pages: 113-99, Published: 27 JAN 2021

مصطلحات موضوعية: enfermedades raras, mucopolisacaridosis, GM1 Gangliosidosis, rare diseases, mucopolysaccharidosis, General Medicine, Sindrome de, neuropsychological assessment, evaluación neuropsicológica, Morquio-B Disease, Morquio B syndrome, Cognitive status, Visual attention, Verbal fluency test, Síndrome de Morquio B, Psychology, Humanities, MPS IV-B

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c820bcc197fa72e406cad2236cab536c
https://doi.org/10.21500/19002386.4398

المؤلفون: Michael Schalli, Seyed A. Nasseri, Werner Windischhofer, Ana Torvisco, Christina Tysoe, Wendy A. Offen, Stephen G. Withers, Patrick Weber, Philipp Müller, Marion Tschernutter, Summer Averill, Eduard Paschke, Andreas Wolfsgruber, Martin Thonhofer, Bettina M. Pabst, Arnold E. Stütz, Tanja M. Wrodnigg, Gideon J. Davies, Andrés G. Santana

المصدر: Molecules
Molecules, Vol 25, Iss 4025, p 4025 (2020)
Volume 25
Issue 17

مصطلحات موضوعية: Molecular Conformation, Pharmaceutical Science, 4-epi-isofagomine, Ligands, 01 natural sciences, Analytical Chemistry, Morquio-B Disease, Drug Discovery, GM1-gangliosidosis, Moiety, Glycoside hydrolase, Enzyme Inhibitors, 0303 health sciences, Chemistry, Human cell, aminocyclopentane, Galactosidases, Pharmacological chaperone, Biochemistry, galactosidase inhibitor, Chemistry (miscellaneous), Molecular Medicine, Crystallization, Imino Pyranoses, medicine.drug, carbasugar, Cyclopentanes, Article, lcsh:QD241-441, 03 medical and health sciences, lcsh:Organic chemistry, medicine, iminoalditol, Humans, Physical and Theoretical Chemistry, Deoxygenation, 030304 developmental biology, 010405 organic chemistry, Organic Chemistry, Galactosidase activity, 0104 chemical sciences, pharmacological chaperone, Mutant Proteins, Lysosomes, Molecular Chaperones

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a21aebf7315b8edceb182918f2e34f2
https://eprints.whiterose.ac.uk/167565/1/molecules_25_04025_v3.pdf

المؤلفون: Marwan Shinawi, Donald R. Dengel, Julia Steinberger, Adriana M. Montaño, Raymond Y. Wang, Kyle Rudser, Stephen R. Braddock, Nina Movsesyan, Qi Gan, Katherine M. Christensen, Nicholas G. Evanoff, Deborah Boylan, Robert Garrett

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Orphanet journal of rare diseases, vol 15, iss 1

مصطلحات موضوعية: 0301 basic medicine, Carotid ultrasound, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:Medicine, Disease, Cardiovascular, Carotid Intima-Media Thickness, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Morquio A disease, Clinical Research, Internal medicine, medicine, Humans, Pharmacology (medical), cardiovascular diseases, Mucopolysaccharidosis IVA, Prospective Studies, Genetics (clinical), Genetics & Heredity, Other Medical and Health Sciences, biology, business.industry, Research, lcsh:R, Mucopolysaccharidosis IV, General Medicine, Cardiovascular disease, Confidence interval, Elasticity, Intima media thickness, 030104 developmental biology, medicine.anatomical_structure, Heart Disease, Good Health and Well Being, Cross-Sectional Studies, Intima-media thickness, Cohort, Cardiology, biology.protein, cardiovascular system, Carotid artery structure, business, Elastin, 030217 neurology & neurosurgery, Artery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50656f1dbaf192ca5cc4c2ef985095cf
http://europepmc.org/articles/PMC7079365

المؤلفون: N. Y. Mytsyk, N. G. Gorovenko

المصدر: Biopolymers and Cell, Vol 32, Iss 6, Pp 450-460 (2016)

مصطلحات موضوعية: 0301 basic medicine, Genetics, QH301-705.5, GM1 Gangliosidosis, gene GLB1, QH426-470, Biology, Morquio B disease, General Biochemistry, Genetics and Molecular Biology, Biomedicine, 03 medical and health sciences, 030104 developmental biology, GLB1, Morquio-B Disease, GM1-gangliosidosis, Identification (biology), Biology (General), Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6780cd29d5b9c1f105b40e6e6bd4793a
https://doi.org/10.7124/bc.00093c

المؤلفون: Pardo Diazgranados, Andrea Leonor

المساهمون: Alméciga Díaz, Carlos Javier, Rodríguez, Edwin Alexander

مصطلحات موضوعية: Enfermedad de Morquio A, Terapia de reemplazo enzimatico, Pichia pastoris, Enzima activadora de sulfatasa (SUMF1), Morquio A disease, enzyme replacement therapy, Sulfatase activator enzyme (SUMF1, N-acetylgalactosamine-6-sulfate sulfatase (GALNS), Microbiología industrial - Tesis y disertaciones académicas

وصف الملف: PDF; application/pdf

Relation: http://hdl.handle.net/10554/16183; instname:Pontificia Universidad Javeriana; reponame:Repositorio Institucional - Pontificia Universidad Javeriana; repourl:https://repository.javeriana.edu.co

الاتاحة: http://hdl.handle.net/10554/16183

المؤلفون: Michelina Sibilio, Anna Caciotti, Rodolfo Tonin, Amelia Morrone, Matthew Mort, Serena Gasperini, Giancarlo Parenti, David Neil Cooper, Roberta Taurisano, Miriam Rigoldi, Renzo Guerrini, Rossella Parini, Federica Deodato

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Internal medicine, lcsh:QH426-470, Adolescent, Genotype, Sequence analysis, Deep intronic mutations, Morquio a disease, RNA Splicing, DNA Mutational Analysis, Whole gene sequencing, Biology, medicine.disease_cause, 03 medical and health sciences, Exon, Genetics, medicine, Humans, Mucopolysaccharidosis IVA, RNA, Messenger, Allele, lcsh:RC31-1245, Gene, Genetics (clinical), Mutation, Base Sequence, Decision Trees, Mucopolysaccharidosis IV, Exons, medicine.disease, GALNS, mRNA defects, Uniparental disomy, Human genetics, Chondroitinsulfatases, Introns, lcsh:Genetics, 030104 developmental biology, RNA splicing, Female, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9cede9162394d3e2e8d44ad315d948e

المؤلفون: Goro Takada, Hitoshi Sakuraba, Jun Kuwahara, Kohji Itoh, Naohiro Takeuchi, Tsutomu Takahashi, Yutaka Tatano

المصدر: The Journal of Medical Investigation. 2006, 53(1,2):103

المؤلفون: Tatano, Yutaka, Takeuchi, Naohiro, Kuwahara, Jun, Sakuraba, Hitoshi, Takahashi, Tsutomu, Takada, Goro, Itoh, Kohji

مصطلحات موضوعية: elastin-binding protein, lysosomal β -galactosidase gene, lysosomal enzyme deficiencies, morquio B disease, costello syndrome

Relation: http://repo.lib.tokushima-u.ac.jp/files/public/11/110794/20170929151126923165/jmi_53_1-2_103.pdf; AA11166929; http://repo.lib.tokushima-u.ac.jp/110794

الاتاحة: http://repo.lib.tokushima-u.ac.jp/110794

المؤلفون: Katrin Fantur, Gerit Pototschnig, Arnold E. Stütz, Don J. Mahuran, Georg Schitter, Stephen G. Withers, Robert Saf, Brigitte Rigat, Andreas Steiner, Carina Illaszewicz, Eduard Paschke, Chris A. Tarling, Elisabeth Scheucher, Michael B. Tropak, Tanja M. Wrodnigg, Martin Thonhofer

المصدر: ChemBioChem. 11:2026-2033

مصطلحات موضوعية: Halogenation, Mutant, Gangliosidosis, Coffee, Biochemistry, Article, Cell Line, Sugar Alcohols, Morquio-B Disease, Escherichia coli, medicine, Humans, Moiety, Glycoside hydrolase, Enzyme Inhibitors, Molecular Biology, chemistry.chemical_classification, Gangliosidosis, GM1, GM1 Gangliosidosis, Organic Chemistry, Fibroblasts, Human cell, medicine.disease, Galactosidases, Enzyme, chemistry, Molecular Medicine, Imines, Rhizobium

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eda450c4e2fda5d86b0d879d023eedc
https://doi.org/10.1002/cbic.201000192

المؤلفون: Werner Windischhofer, Christina Tysoe, Eduard Paschke, Marion Tschernutter, Stephen G. Withers, Bettina M. Pabst, Arnold E. Stütz, Andrés G. Santana, Roland Fischer, Patrick Weber, Martin Thonhofer, Michael Schalli

المصدر: Carbohydrate research. 429

مصطلحات موضوعية: 0301 basic medicine, 1-Deoxynojirimycin, Mutant, Bioinformatics, 01 natural sciences, Biochemistry, Analytical Chemistry, 03 medical and health sciences, Morquio-B Disease, medicine, Humans, Gangliosidosis, GM1, 010405 organic chemistry, Chemistry, GM1 Gangliosidosis, Organic Chemistry, Mucopolysaccharidosis IV, General Medicine, beta-Galactosidase, 0104 chemical sciences, Pharmacological chaperone, 030104 developmental biology, 4-epi-isofagomine, Hydrophobic and Hydrophilic Interactions, medicine.drug, Imino Pyranoses

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d36c5cd4c333cdaf8a8067b1d08ed942
https://pubmed.ncbi.nlm.nih.gov/27063389

المؤلفون: Eiji Nanba, Katsumi Higaki, Yoshiyuki Suzuki, Seiichiro Ogawa, Miho Tabe, Hiroyuki Iwasaki, Hiroshi Watanabe, Masami Iida

المصدر: Brain and Development. 28:482-486

مصطلحات موضوعية: Genotype, Glutamine, Cell, Drug Evaluation, Preclinical, Gene mutation, Arginine, Developmental Neuroscience, Morquio-B Disease, Cyclohexenes, medicine, Humans, Fibroblast, Cells, Cultured, Gangliosidosis, GM1, Dose-Response Relationship, Drug, biology, Mucopolysaccharidosis IV, Hexosamines, General Medicine, Fibroblasts, beta-Galactosidase, Molecular biology, Enzyme assay, Phenotype, medicine.anatomical_structure, Chaperone (protein), Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Mutation testing, Neurology (clinical), Chemical chaperone, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcec4d40483f76ba4d34593a5112af09
https://doi.org/10.1016/j.braindev.2006.02.002

المؤلفون: Tatano, Yutaka, Takeuchi, Naohiro, Kuwahara, Jun, Sakuraba, Hitoshi, Takahashi, Tsutomu, Takada, Goro, Itoh, Kohji

المصدر: The journal of medical investigation : JMI. 53(1-2):103-112

مصطلحات موضوعية: morquio B disease, lysosomal β -galactosidase gene, costello syndrome, elastin-binding protein, lysosomal enzyme deficiencies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=jairo_______::bc48096060f4100e3d6ef5bd36afed1a
https://repo.lib.tokushima-u.ac.jp/110794

المؤلفون: Frenny Sheth, Raktima Bhattacharya, Jayesh Sheth

المصدر: The Indian Journal of Pediatrics. 69:109-111

مصطلحات موضوعية: Male, medicine.medical_specialty, Mucopolysaccharidosis, Dwarfism, Intermediate level, Short stature, Morquio-B Disease, Internal medicine, Humans, Medicine, Sibling, Child, business.industry, Syndrome, Mucopolysaccharidoses, beta-Galactosidase, medicine.disease, humanities, medicine.anatomical_structure, Endocrinology, Dysplasia, Child, Preschool, Pediatrics, Perinatology and Child Health, Chorionic villi, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74613f41a52cbcb3b586cde699230068
https://doi.org/10.1007/bf02723790

المؤلفون: K Paul, Michael Beck, Helen Michelakakis, Eduard Paschke, J. Ledvinova, Barbara Plecko, Katrin Fantur, Doris Hofer

المصدر: Neuropediatrics. 39

مصطلحات موضوعية: business.industry, Morquio-B Disease, GM1 Gangliosidosis, Pediatrics, Perinatology and Child Health, Expression analysis, Medicine, Missense mutation, Neurology (clinical), General Medicine, business, Molecular biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0538e3ed226bd0e8a569de28102aaff5
https://doi.org/10.1055/s-0029-1215798