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المؤلفون: Sherwood, Dalton J., Adams, Michael C., Mazzella, Anthony J., Abid, Ahad, Prasada, Sudhir, Muenzer, Joseph, Johnson, Steven M., Yeung, Michael
المصدر: JACC Case Reports
مصطلحات موضوعية: inherited metabolic disorders, Clinical Case, TTE, transthoracic echocardiogram, cardiovascular system, echocardiography, LVOT, left ventricular outflow tract, Case Report, genetics, valve replacement, GAG, glycosaminoglycan, CNS, central nervous system, MPS, mucopolysaccharidosis, Cardiology and Cardiovascular Medicine
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المؤلفون: Sheila Maestro, Gloria González-Aseguinolaza, Rafael Aldabe, Nicholas D. Weber, Nerea Zabaleta
المصدر: JHEP Reports
مصطلحات موضوعية: MPS type VII, MPSVII, S/MAR, scaffold matrix attachment regions, PB, piggyBac, gene addition, GalNAc, N-acetyl-D-galactosamine, UCD, urea cycle disorders, Genetic enhancement, medicine.medical_treatment, efficacy, MMA, methylmalonic acidemia, Review, Liver transplantation, medicine.disease_cause, MPS, mucopolysaccharidosis, immune response, IDS, iduronate 2-sulfatase, lncRNA, long non-coding RNA, gene silencing, GSD1a, glycogen storage disorder 1a, AAV, adeno-associated virus, ASOs, antisense oligonucleotides, Genome editing, AHP, acute hepatic porphyrias, HT, hereditary tyrosinemia, IMLD, inherited metabolic liver diseases, PFIC3, progressive familial cholestasis type 3, Immunology and Allergy, NHPs, non-human primates, CRISPR/Cas9, CRISPR associated protein 9, GO, glycolate oxidase, HemA/B, haemophilia A/B, Adeno-associated virus, HDR, homology-directed repair, Transcription activator-like effector nuclease, LNP, Lipid nanoparticles, siRNA, small-interfering RNA, MPR, metabolic pathway reprograming, LDH, lactate dehydrogenase, PH1, Primary hyperoxaluria type 1, gene editing, SRT, substrate reduction therapy, Gastroenterology, Ad, adenovirus, AAT, α1-antitrypsin, PA, propionic acidemia, dCas9, dead Cas9, ERT, enzyme replacement therapy, HDAd, helper-dependent adenovirus, CRISPR, clustered regularly interspaced short palindromic repeats, SB, Sleeping Beauty, LDLR, low-density lipoprotein receptor, MPS type I, MPSI, hepatocytes, OTC, ornithine transcarbamylase, APCs, antigen-presenting cells, DSBs, double-strand breaks, viral vectors, LV, lentivirus, AIP, acute intermittent porphyria, NASH, non-alcoholic steatohepatitis, GT, gene therapy, PKU, phenylketonuria, Computational biology, Gene delivery, Biology, FH, familial hypercholesterolemia, Viral vector, ITR, inverted terminal repetition, ZFN, zinc finger nucleases, GUSB, β-glucuronidase, Internal Medicine, medicine, OLT, orthotopic liver transplantation, Gene silencing, miRNAs, microRNAs, ASGPR, asialoglycoprotein receptor, ALAS1, aminolevulic synthase 1, TALEN, transcription activator-like effector nucleases, CBS, cystathionine β-synthase, PEG, polyethylene glycol, PEI, polyethyleneimine, TTR, transthyretin, Hepatology, IDUA, α-L-iduronidase, toxicity, ASGCT, American Society of Gene and Cell Therapy, CN, Crigel-Najjar, STK25, serine/threonine protein kinase 25, VLDLR, very-low-density lipoprotein receptor, WD, Wilson’s disease, FSP27, fat-specific protein 27, NHEJ, non-homologous end joining, Non-viral vectors, LTR, long terminal repeat, apoB/E, apolipoprotein B/E, RV, retrovirus, PCSK9, proprotein convertase subtilisin/kexin type 9
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المؤلفون: Silvia Favilli, Elena Procopio, Maria Chiara Sanvito, Francesca Miselli, Maria Alice Donati, Katia Rossi, Giovanni Battista Calabri, Alice Brambilla, Francesco Torcetta, Luca Ragni
المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100714-(2021)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: Cardiac function curve, medicine.medical_specialty, Cardiac failure, Cardiomyopathy, medicine.medical_treatment, Mucopolysaccharidosis, Case Report, Heart failure, Hematopoietic stem cell transplantation, MPS, Mucopolysaccharidosis, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Endocrinology, ERT, Enzyme Replacement Therapy, Internal medicine, Neonatal, Genetics, Medicine, Noncompaction, LVEV, Left Ventricular Ejection Fraction, Molecular Biology, lcsh:QH301-705.5, 0303 health sciences, HSCT, Hematopoietic Stem Cell Transplantation, lcsh:R5-920, business.industry, 030305 genetics & heredity, Dilated cardiomyopathy, Enzyme replacement therapy, GAGs, Glycosaminoglycans, medicine.disease, LV, Left Ventricular, lcsh:Biology (General), Cardiology, business, lcsh:Medicine (General), 030217 neurology & neurosurgery
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المؤلفون: Elsa Shapiro, Igor Nestrasil, Richard S. Ziegler, Alia Ahmed, Chester B. Whitley, Julie B. Eisengart, Jeanine Jarnes, Kathleen A. Delaney
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 64-68 (2017)مصطلحات موضوعية: Newborn screening, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, Mucopolysaccharidosis, MPS IH, Mucopolysaccharidosis Type IH, Hurler Syndrome, Cognitive decline, Case Report, CNS, central nervous system, MPS, Mucopolysaccharidosis, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Endocrinology, 030225 pediatrics, Genetics, medicine, Hurler syndrome, lcsh:QH301-705.5, Molecular Biology, lcsh:R5-920, MPS I, Mucopolysaccharidosis Type I, business.industry, nutritional and metabolic diseases, HCT, hematopoietic cell transplantation, Enzyme replacement therapy, medicine.disease, 3. Good health, Surgery, Transplantation, lcsh:Biology (General), lcsh:Medicine (General), business, MRI, magnetic resonance imaging, Neurocognitive, 030217 neurology & neurosurgery, ERT, Enzyme replacement therapy
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المؤلفون: Mahoko Furujo, Motomichi Kosuga, Torayuki Okuyama
المصدر: Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 69-75 (2017)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: 0301 basic medicine, Cardiac function curve, ASB, N-acetylgalactosamine 4-sulfatase, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 6MWT, 6-minute walk test, Mucopolysaccharidosis type VI, Hepatosplenomegaly, 030105 genetics & heredity, GAG, glycosaminoglycan, MPS, mucopolysaccharidosis, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Galsulfase, Case report, Genetics, medicine, Deformity, rh, recombinant human, IGF-1, insulin-like growth factor 1, Molecular Biology, lcsh:QH301-705.5, ROM, range of motion, lcsh:R5-920, NR, normal range, business.industry, Disease progression, nutritional and metabolic diseases, Enzyme replacement therapy, Deficient N-acetylgalactosamine 4-sulfatase, Surgery, GH, growth hormone, ERT, enzyme replacement therapy, GALSULFASE, Glycosaminoglycan, lcsh:Biology (General), TSH, thyroid stimulating hormone, ECHO, echocardiography, medicine.symptom, Range of motion, business, lcsh:Medicine (General), 030217 neurology & neurosurgery, fT4, free thyroid hormone
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المؤلفون: S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Meenakshi Bhat, Juby Mathew, Sudha Srinivasan, Sujatha Jagadeesh
المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 53-61 (2015)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: Mucopolysaccharidosis VI (MPS VI), Arylsulfatase B, ARSB, arylsulfatase B, Population, India, LSD, lysosomal storage disorder, GAG, glycosaminoglycan, Lysosomal storage disorder (LSD), Biology, MPS, mucopolysaccharidosis, medicine.disease_cause, HSCT, hematopoietic stem cell transplantation, Endocrinology, VUS, variants of unknown significance, Genetics, medicine, MPS - Mucopolysaccharidosis, education, Arylsulfatase B (ARSB), lcsh:QH301-705.5, Molecular Biology, Gene, GALNS, N-acetyl galactosamine 6-sulfatase, lcsh:R5-920, education.field_of_study, Mutation, Maroteaux–Lamy syndrome, Active site, Mucopolysaccharidosis VI, medicine.disease, Lysosomal enzyme, ERT, enzyme replacement therapy, lcsh:Biology (General), Inborn error of metabolism (IEM), Inborn error of metabolism, PCT, pharmacological chaperone therapy, HGMD, Human Gene Mutation Database, lcsh:Medicine (General), Mutations, Research Paper
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المؤلفون: Iain A. Bruce, Gabrielle Thompson, Stuart Wilkinson, Simon Jones, Johnny J. Kenth, Catherine Fullwood
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)مصطلحات موضوعية: AASM, American Academy of Sleep Medicine, OSA, Obstructive Sleep Apnea, MPS, Min dip Spo2, Minimum dips in arterial oxygen saturations [%], Respiratory changes, ATS, American Thoracic Society, BiPAP, Bi-level non-invasive ventilation, Pulmonary function testing, MPS, Mucopolysaccharidosis, Endocrinology, Respiratory function, Mucopolysaccharidosis IVA, lcsh:QH301-705.5, lcsh:R5-920, medicine.diagnostic_test, BTS, British Thoracic Society, GAG, Glycosaminoglycan, FEV1, Forced expiratory volume in one second, Enzyme replacement therapy, FVC, Forced vital capacity, FEV1 [%Pred], FEV1 as a percentage of predicted, Cardiology, GALNS, Acetylgalactosamine-6-sulfatase, lcsh:Medicine (General), MPS IVA, Mucopolysaccharidosis Type IVA, LSD, Lysosomal storage disease, Cohort study, Research Paper, ERT, Enzyme replacement therapy, Spirometry, medicine.medical_specialty, 6MWT, 6-minute walk test, KS, Keratan sulfate, FEV1/FVC ratio, ECM, Extracellular matrix, C6S, Chondroitin Sulphate, Internal medicine, uKS, Urinary keratan sulfate, Genetics, medicine, Morquio syndrome, Molecular Biology, ADLs, Activities of daily living, business.industry, Sleep disordered breathing, Cardiorespiratory fitness, FDA, Food and Drug Administration, lcsh:Biology (General), Respiratory failure, FVC: [%Pred], FVC as a percentage of predicted, ODI 3%, Oxygen desaturation index, ≥ 3% arterial oxygen desaturations per hour, AEs, Adverse Events, CPET, Cardiopulmonary exercises testing, Med nadir 3%, Median nadir of arterial oxygen saturations 3% from baseline, business, T&A, Adenotonsillectomy, Spo2, Arterial saturations
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المؤلفون: Brett E. Crawford, Adam Harris, Jeremy L. Van Vleet, Roberto Giugliani, Sanjay Chandriani, Roger Lawrence, Gouri Yogalingam, Linley Mangini, Nathan T. Martin, Wyatt T. Clark, Alessandra d'Azzo, Jonathan H. LeBowitz
المصدر: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)مصطلحات موضوعية: Glycoconjugate, MPS, mucopolysaccharidosis, GRIL-LC/MS, glycan reductive isotope labeling liquid chromatography mass spectrometry, BMP, Bis(monoacylglycero) phosphate, TIC, total ion current, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, KS, keratan sulfate, Disease biomarkers, Beta-galactosidase, Hex, hexose, lcsh:QH301-705.5, chemistry.chemical_classification, lcsh:R5-920, 0303 health sciences, Gangliosidose GM1, biology, 030305 genetics & heredity, GlcNAc, N-acetylglucosamine, GLB1, Biochemistry, HexNAc, N-acetylhexosamine, lcsh:Medicine (General), Research Paper, Glycan, GM1 gangliosidosis, GLB1, β-galactosidase, A2G2, Oxford glycan naming designation for NA2 glycan, 03 medical and health sciences, Glycoanalysis, Glycolipid, dp, degree of polymerization, Genetics, Glycan metabolites, Molecular Biology, NRE, non-reducing end, m/z, mass over charge, Ganglioside, Man, mannose, carbohydrates (lipids), Gal, galactose, Enzyme, Biomarcadores, lcsh:Biology (General), chemistry, Galactose, biology.protein, XIC, extracted ion current, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fad1e65eec41e62a514a14a12ceec192
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المؤلفون: Yin-Hsiu Chien, Yen Yin Chou, Yu Yuan Ke, Wuh-Liang Hwu, Chung Hsing Wang, Hsiang-Yu Lin, Fuu Jen Tsai, Hui Ping Pan, Shio Jean Lin, Chih Kuang Chuang, Shuan-Pei Lin, Yu Mei Wang, Dau Ming Niu
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 7, Iss C, Pp 63-69 (2016)مصطلحات موضوعية: 0301 basic medicine, Background information, Mucopolysaccharidosis, HAZ, height-for-age, 030105 genetics & heredity, GAG, glycosaminoglycan, MPS, mucopolysaccharidosis, Endocrinology, IVSd, interventricular septum thickness in diastole, FVC - Forced vital capacity, 3MSCT, 3-minute stair climb test, Medicine, lcsh:QH301-705.5, DXA, dual energy x-ray absorptiometry, Glycosaminoglycans, lcsh:R5-920, Mucopolysaccharidosis VI, Enzyme replacement therapy, LVMI, left ventricular mass index, ERT, enzyme replacement therapy, Cardiac hypertrophy, Galsulfase, recombinant human N-acetylgalactosamine 4-sulfatase, FVC, Forced vital capacity, Diastolic dysfunction, LVM, left ventricular mass, lcsh:Medicine (General), BC, bone conduction, CHAQ, Childhood Health Assessment Questionnaire, Research Paper, ASB, N-acetylgalactosamine 4-sulfatase, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, 6MWT, 6-minute walk test, FEV1, forced expiratory volume in 1 s, Pulmonary function, LVPWd, left ventricular posterior wall thickness in diastole, BMD, bone mineral density, 03 medical and health sciences, Internal medicine, E/A, ratio between early and late (atrial) ventricular filling velocity, Genetics, Molecular Biology, PTA - Pure tone audiometry, business.industry, nutritional and metabolic diseases, medicine.disease, HAQ, Health Assessment Questionnaire, PTA, pure-tone audiometry, Z score, standard deviation score, Surgery, GALSULFASE, lcsh:Biology (General), business, AC, air conduction
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المؤلفون: Jordi Pérez-López, A.K. Gevorkian, M. Del Toro, Nato Vashakmadze, Karolina M. Stepien, Briony McNelly, Christina Lampe, T.V. Lobzhanidze, Christian J. Hendriksz
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)مصطلحات موضوعية: medicine.medical_specialty, Mucopolysaccharidosis, media_common.quotation_subject, MDT, multidisciplinary team, Metabolic disease, Adult care, GAG, glycosaminoglycan, NHS, National Health Service, MPS, mucopolysaccharidosis, Multidisciplinary team, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, HCP, healthcare professionals, Genetics, GP, general practitioner, Medicine, lcsh:QH301-705.5, Molecular Biology, NICE, National Institute for Health and Clinical Excellence, Paediatric care, Organ system, media_common, lcsh:R5-920, 0303 health sciences, business.industry, 030305 genetics & heredity, medicine.disease, ERT, enzyme replacement therapy, lcsh:Biology (General), Feeling, Sufficient time, Family medicine, Transition, Case studies, Inherited metabolic disease, lcsh:Medicine (General), ENT, ear nose and throat, business, 030217 neurology & neurosurgery, Research Paper
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