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Wyszukujesz frazę ""Mucopolysaccharidosis VI"" wg kryterium: Temat


Starter badań:

Tytuł :
Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report.
Autorzy :
He MF; Department of Ophthalmology, Affiliated Hospital of Yunnan University, Second People's Hospital of Yunnan Province, Kunming, China.; The Eye Disease Clinical Medical Research Center of Yunnan Province, Kunming, China.; The Eye Disease Clinical Medical Center of Yunnan Province, Kunming, 650000, China.
Yang J; Department of Ophthalmology, Affiliated Hospital of Yunnan University, Second People's Hospital of Yunnan Province, Kunming, China.; The Eye Disease Clinical Medical Research Center of Yunnan Province, Kunming, China.; The Eye Disease Clinical Medical Center of Yunnan Province, Kunming, 650000, China.
Dong MJ; Department of Ophthalmology, Affiliated Hospital of Yunnan University, Second People's Hospital of Yunnan Province, Kunming, China.; The Eye Disease Clinical Medical Research Center of Yunnan Province, Kunming, China.; The Eye Disease Clinical Medical Center of Yunnan Province, Kunming, 650000, China.
Wang YT; Department of Ophthalmology, Affiliated Hospital of Yunnan University, Second People's Hospital of Yunnan Province, Kunming, China.; The Eye Disease Clinical Medical Research Center of Yunnan Province, Kunming, China.; The Eye Disease Clinical Medical Center of Yunnan Province, Kunming, 650000, China.
Liu H; Department of Ophthalmology, Affiliated Hospital of Yunnan University, Second People's Hospital of Yunnan Province, Kunming, China. .; The Eye Disease Clinical Medical Research Center of Yunnan Province, Kunming, China. .; The Eye Disease Clinical Medical Center of Yunnan Province, Kunming, 650000, China. .
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Źródło :
BMC ophthalmology [BMC Ophthalmol] 2021 May 13; Vol. 21 (1), pp. 214. Date of Electronic Publication: 2021 May 13.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mucopolysaccharidosis VI*/diagnosis
Mucopolysaccharidosis VI*/genetics
N-Acetylgalactosamine-4-Sulfatase*/genetics
Adolescent ; China ; Humans ; Male ; Mutation ; Mutation, Missense
Czasopismo naukowe
Tytuł :
Preoperative cardiac POCUS for urgent surgery in a patient with Maroteaux-Lamy syndrome.
Autorzy :
Salik I; Department of Anesthesiology at Westchester Medical Center, New York Medical College, Valhalla, NY, United States of America. Electronic address: .
Rodhouse HB; Department of Anesthesiology at Westchester Medical Center, New York Medical College, Valhalla, NY, United States of America. Electronic address: .
Mehta B; Department of Anesthesiology at Westchester Medical Center, New York Medical College, Valhalla, NY, United States of America. Electronic address: .
Villion A; Department of Anesthesiology at Westchester Medical Center, New York Medical College, Valhalla, NY, United States of America. Electronic address: .
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Źródło :
Journal of clinical anesthesia [J Clin Anesth] 2021 Sep; Vol. 72, pp. 110296. Date of Electronic Publication: 2021 Apr 27.
Typ publikacji :
Letter
MeSH Terms :
Mucopolysaccharidosis VI*
Heart ; Humans
Opinia redakcyjna
Tytuł :
Transversus thoracis muscle plane blocks for a patient with Maroteaux-Lamy syndrome undergoing mitral valve replacement.
Autorzy :
Zauk J; Department of Anesthesiology, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, United States of America.
Wyatt K; Department of Anesthesiology, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, United States of America; Department of Anesthesiology, Perioperative and Pain Medicine, Texas Children's Hospital, 6621 Fannin Street Ste. A3300, Houston, TX 77030, United States of America. Electronic address: .
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Źródło :
Journal of clinical anesthesia [J Clin Anesth] 2021 Sep; Vol. 72, pp. 110269. Date of Electronic Publication: 2021 Apr 16.
Typ publikacji :
Letter
MeSH Terms :
Mucopolysaccharidosis VI*
Nerve Block*
Humans ; Mitral Valve/diagnostic imaging ; Mitral Valve/surgery ; Muscle, Skeletal ; Pain, Postoperative
Opinia redakcyjna
Tytuł :
Progression of eye disease over 15 years in a patient with mucopolysaccharidosis type VI on enzyme replacement therapy.
Autorzy :
Sarfraz MW; Ophthalmology, Manchester Royal Eye Hospital, Manchester, Greater Manchester, UK .
Smith M; Optometry, Martin Smith Opticians, Lincoln, Lincolnshire, UK.
Jones S; Willink Metabolic Unit, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.
Ashworth J; Ophthalmology, Manchester Royal Eye Hospital, Manchester, Greater Manchester, UK.
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Źródło :
BMJ case reports [BMJ Case Rep] 2021 Feb 10; Vol. 14 (2). Date of Electronic Publication: 2021 Feb 10.
Typ publikacji :
Journal Article
MeSH Terms :
Eye Diseases*
Mucopolysaccharidosis VI*/drug therapy
Enzyme Replacement Therapy ; Humans ; Recombinant Proteins/therapeutic use
Czasopismo naukowe
Tytuł :
Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses.
Autorzy :
Jones SA; Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK. Electronic address: .
Marsden D; Ultragenyx Pharmaceutical Inc., Novato, CA, USA.
Koutsoukos T; Ultragenyx Pharmaceutical Inc., Novato, CA, USA.
Sniadecki J; Ultragenyx Pharmaceutical Inc., Novato, CA, USA.
Tylee K; Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
Phillippo S; Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
Kakkis E; Ultragenyx Pharmaceutical Inc., Novato, CA, USA.
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Źródło :
Molecular genetics and metabolism [Mol Genet Metab] 2020 Aug; Vol. 130 (4), pp. 255-261. Date of Electronic Publication: 2020 Jun 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Biomarkers/*urine
Enzyme Replacement Therapy/*methods
Glycosaminoglycans/*urine
Mucopolysaccharidosis I/*pathology
Mucopolysaccharidosis II/*pathology
Mucopolysaccharidosis VI/*pathology
N-Acetylgalactosamine-4-Sulfatase/*therapeutic use
Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Male ; Mucopolysaccharidosis I/enzymology ; Mucopolysaccharidosis I/therapy ; Mucopolysaccharidosis I/urine ; Mucopolysaccharidosis II/enzymology ; Mucopolysaccharidosis II/therapy ; Mucopolysaccharidosis II/urine ; Mucopolysaccharidosis VI/enzymology ; Mucopolysaccharidosis VI/therapy ; Mucopolysaccharidosis VI/urine ; Prognosis ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Odiparcil, a potential glycosaminoglycans clearance therapy in mucopolysaccharidosis VI-Evidence from in vitro and in vivo models.
Autorzy :
Entchev E; Inventiva Pharma, Bourgogne-Franche-Comté, Daix, France.
Jantzen I; Inventiva Pharma, Bourgogne-Franche-Comté, Daix, France.
Masson P; Inventiva Pharma, Bourgogne-Franche-Comté, Daix, France.
Bocart S; Inventiva Pharma, Bourgogne-Franche-Comté, Daix, France.
Bournique B; Inventiva Pharma, Bourgogne-Franche-Comté, Daix, France.
Luccarini JM; Inventiva Pharma, Bourgogne-Franche-Comté, Daix, France.
Bouchot A; DImaCell Core Facility, Inserm UMR1231 CellImaP site, Université de Bourgogne, Bourgogne-Franche-Comté, Dijon, France.
Lacombe O; Inventiva Pharma, Bourgogne-Franche-Comté, Daix, France.
Junien JL; Inventiva Pharma, Bourgogne-Franche-Comté, Daix, France.
Broqua P; Inventiva Pharma, Bourgogne-Franche-Comté, Daix, France.
Tallandier M; Inventiva Pharma, Bourgogne-Franche-Comté, Daix, France.
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Źródło :
PloS one [PLoS One] 2020 May 15; Vol. 15 (5), pp. e0233032. Date of Electronic Publication: 2020 May 15 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Glycosaminoglycans/*metabolism
Glycosides/*therapeutic use
Mucopolysaccharidosis VI/*drug therapy
Mucopolysaccharidosis VI/*metabolism
Administration, Oral ; Animals ; Cattle ; Cells, Cultured ; Chondroitin Sulfates ; Dermatan Sulfate/metabolism ; Disease Models, Animal ; Endothelial Cells/drug effects ; Endothelial Cells/metabolism ; Female ; Glycosides/administration & dosage ; Glycosides/pharmacokinetics ; Humans ; In Vitro Techniques ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Mutant Strains ; Mucopolysaccharidosis VI/genetics ; Rats ; Rats, Sprague-Dawley
Czasopismo naukowe
Tytuł :
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Autorzy :
Honjo RS; Unidade de Genética do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, São Paulo, CEP 05403-000, Brazil. .
Vaca ECN; Unidade de Genética do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, São Paulo, CEP 05403-000, Brazil.
Leal GN; Setor de Ecocardiografia do SADT do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Abellan DM; Departamento de Pediatria - Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Ikari NM; Unidade de Cardiologia Pediátrica do Incor - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Jatene MB; Unidade Cirúrgica Infantil do Instituto do Coração - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Martins AM; Departamento de Pediatria - Centro de Referência em Erros Inatos do Metabolismo, Universidade Federal de São Paulo, São Paulo, Brazil.
Kim CA; Unidade de Genética do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, São Paulo, CEP 05403-000, Brazil.
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 Feb 19; Vol. 21 (1), pp. 37. Date of Electronic Publication: 2020 Feb 19.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Heart/*physiopathology
Heart Failure/*genetics
Mucopolysaccharidosis VI/*genetics
N-Acetylgalactosamine-4-Sulfatase/*genetics
Ascites ; Brazil/epidemiology ; Disease Progression ; Heart/diagnostic imaging ; Heart Failure/diagnosis ; Heart Failure/diagnostic imaging ; Heart Failure/physiopathology ; Humans ; Infant ; Male ; Mucopolysaccharidosis VI/diagnostic imaging ; Mucopolysaccharidosis VI/physiopathology ; Mutation ; Phenotype
Czasopismo naukowe
Tytuł :
Double valve replacement in a patient with Maroteaux - Lamy syndrome as an ultimate team challenge.
Autorzy :
Demis AA; Cardiovascular Surgery Department, Athens Medical Center, Athens, Greece.
Oikonomidou S; Anesthesiology Department, Athens Medical Center, Athens, Greece.
Daglis F; Pathology Department, Athens Medical Center, Athens, Greece.
Polymenakos S; Cardiovascular Surgery Department, Athens Medical Center, Athens, Greece.
Panagiotou M; Cardiovascular Surgery Department, Athens Medical Center, Athens, Greece. .
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Źródło :
Journal of cardiothoracic surgery [J Cardiothorac Surg] 2021 May 24; Vol. 16 (1), pp. 141. Date of Electronic Publication: 2021 May 24.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Anesthesia*
Heart Valve Prosthesis Implantation*
Aortic Valve Stenosis/*surgery
Mitral Valve Insufficiency/*surgery
Mucopolysaccharidosis VI/*complications
Adult ; Humans ; Intubation, Intratracheal ; Male
Czasopismo naukowe
Tytuł :
Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.
Autorzy :
Aminzadeh M; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; Department of Pediatrics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Malekpour N; Department of Genetics, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Ghandil P; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Electronic address: .
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Źródło :
Gene [Gene] 2019 Jul 20; Vol. 706, pp. 1-5. Date of Electronic Publication: 2019 Apr 19.
Typ publikacji :
Journal Article
MeSH Terms :
Mucopolysaccharidosis VI/*genetics
N-Acetylgalactosamine-4-Sulfatase/*genetics
Adult ; Consanguinity ; DNA/genetics ; DNA Mutational Analysis/methods ; Exons ; Female ; Humans ; Iran ; Male ; Mucopolysaccharidosis VI/enzymology ; Mucopolysaccharidosis VI/metabolism ; Mutation/genetics ; N-Acetylgalactosamine-4-Sulfatase/metabolism ; N-Acetylgalactosamine-4-Sulfatase/physiology ; Phenotype ; Sequence Analysis, DNA/methods
Czasopismo naukowe
Tytuł :
[Cardiovascular findings and effects of enzyme replacement therapy in patients with mucopolysaccharidosis type VI].
Autorzy :
Azak E; Department of Pediatric Cardiology, University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey.
Gündüz M; Department of Pediatric Nutrition and Metabolism, University of Health Sciences Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey.
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Transliterated Title :
Mukopolisakkaridoz tip VI'lı çocuklarda kardiyovasküler bulgular ve enzim replasman tedavisinin etkisi.
Źródło :
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir [Turk Kardiyol Dern Ars] 2019 Oct; Vol. 47 (7), pp. 587-593.
Typ publikacji :
Journal Article
MeSH Terms :
Heart Valve Diseases/*diagnostic imaging
Mucopolysaccharidosis VI/*drug therapy
Adolescent ; Aortic Valve/diagnostic imaging ; Child ; Child, Preschool ; Echocardiography ; Electrocardiography ; Enzyme Replacement Therapy ; Female ; Heart Valve Diseases/complications ; Heart Valve Diseases/physiopathology ; Humans ; Male ; Mitral Valve/diagnostic imaging ; Mucopolysaccharidosis VI/complications ; N-Acetylgalactosamine-4-Sulfatase/therapeutic use ; Prospective Studies ; Recombinant Proteins/therapeutic use
Czasopismo naukowe
Tytuł :
Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.
Autorzy :
Jafaryazdi R; Department of Medical Genetics and Molecular Biology, Iran University of Medical Sciences, Crossroads of Shahid Hemmat & Shahid Chamran Highways, P.O. Box 15875-6171, Tehran, 1449614535, Iran.
Shams S; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Department of Pathology, Tehran University of Medical Sciences, Tehran, Iran.; Pediatric Urology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Isaian A; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Department of Pathology, Tehran University of Medical Sciences, Tehran, Iran.
Setoodeh A; Division of Pediatrics Endocrinology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Teimourian S; Department of Medical Genetics and Molecular Biology, Iran University of Medical Sciences, Crossroads of Shahid Hemmat & Shahid Chamran Highways, P.O. Box 15875-6171, Tehran, 1449614535, Iran. .
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Źródło :
Molecular biology reports [Mol Biol Rep] 2019 Jun; Vol. 46 (3), pp. 3417-3426. Date of Electronic Publication: 2019 Apr 13.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Mucopolysaccharidosis VI/*genetics
N-Acetylgalactosamine-4-Sulfatase/*genetics
Child ; Child, Preschool ; DNA/genetics ; DNA Mutational Analysis ; Exons ; Female ; Genetic Association Studies ; Genetic Testing ; Genetic Variation/genetics ; Humans ; Infant ; Iran ; Male ; Mucopolysaccharidosis VI/enzymology ; Mucopolysaccharidosis VI/metabolism ; N-Acetylgalactosamine-4-Sulfatase/metabolism ; Pedigree ; Polymorphism, Genetic/genetics
Czasopismo naukowe
Tytuł :
ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
Autorzy :
Raj K; Section of Medical Genetics (PennGen), School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, 19104-6010, USA.
Berman-Booty L; Section of Medical Genetics (PennGen), School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, 19104-6010, USA.
Foureman P; Section of Medical Genetics (PennGen), School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, 19104-6010, USA.
Giger U; Section of Medical Genetics (PennGen), School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, 19104-6010, USA.
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Źródło :
Animal genetics [Anim Genet] 2020 Dec; Vol. 51 (6), pp. 982-986. Date of Electronic Publication: 2020 Sep 28.
Typ publikacji :
Journal Article
MeSH Terms :
Dog Diseases/*genetics
Dogs/*genetics
Mucopolysaccharidosis VI/*genetics
N-Acetylgalactosamine-4-Sulfatase/*genetics
Animals ; Breeding ; Exons ; Gene Frequency ; Homozygote ; Mutation, Missense
Czasopismo naukowe
Tytuł :
Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.
Autorzy :
Harmatz PR; Department of Gastroenterology, UCSF Benioff Children's Hospital Oakland, Oakland, California, USA.
Lampe C; Department of Child Neurology, Justus-Liebig University, Gieβen, Germany.
Parini R; Department of Paediatrics, Fondazione MBBM San Gerardo Hospital, Monza, Italy.; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Sharma R; Department of Endocrinology and Metabolic Medicine, Salford Royal Hospital NHS Foundation Trust, Salford, UK.
Teles EL; Department of Metabolic Diseases, São João Hospital, Porto, Portugal.
Johnson J; BioMarin Pharmaceutical Inc., Novato, California, USA.
Sivam D; BioMarin Pharmaceutical Inc., Novato, California, USA.
Sisic Z; BioMarin Pharmaceutical Inc., Novato, California, USA.
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 May; Vol. 42 (3), pp. 519-526. Date of Electronic Publication: 2019 Apr 08.
Typ publikacji :
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Enzyme Replacement Therapy*
Glycosaminoglycans/*urine
Mucopolysaccharidosis VI/*drug therapy
N-Acetylgalactosamine-4-Sulfatase/*therapeutic use
Adolescent ; Adult ; Child ; Child, Preschool ; Drug-Related Side Effects and Adverse Reactions ; Female ; Follow-Up Studies ; Heart Function Tests ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Mucopolysaccharidosis VI/urine ; Recombinant Proteins/therapeutic use ; Registries ; Respiratory Function Tests ; Severity of Illness Index ; Walk Test ; Young Adult
Czasopismo naukowe
Tytuł :
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Autorzy :
Tomanin R; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova and 'Fondazione Istituto di Ricerca Pediatrica Città della Speranza', Padova, Italy.
Karageorgos L; Hopwood Centre for Neurobiology, South Australian Health and Medical Research Institute, Adelaide, Australia.
Zanetti A; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova and 'Fondazione Istituto di Ricerca Pediatrica Città della Speranza', Padova, Italy.
Al-Sayed M; King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Bailey M; BioMarin Pharmaceutical Inc., Novato, CA, United States.
Miller N; BioMarin Pharmaceutical Inc., Novato, CA, United States.
Sakuraba H; Department of Clinical Genetics, Meiji Pharmaceutical University, Tokyo, Japan.
Hopwood JJ; Hopwood Centre for Neurobiology, South Australian Health and Medical Research Institute, Adelaide, Australia.
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Źródło :
Human mutation [Hum Mutat] 2018 Dec; Vol. 39 (12), pp. 1788-1802. Date of Electronic Publication: 2018 Sep 17.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Genetic Variation*
Genetic Testing/*methods
Mucopolysaccharidosis VI/*diagnosis
N-Acetylgalactosamine-4-Sulfatase/*genetics
Databases, Factual ; Early Diagnosis ; Gene Frequency ; Homozygote ; Humans ; Molecular Conformation ; Mucopolysaccharidosis VI/genetics ; Mucopolysaccharidosis VI/metabolism ; Mutation, Missense ; N-Acetylgalactosamine-4-Sulfatase/chemistry ; N-Acetylgalactosamine-4-Sulfatase/metabolism ; Societies, Medical
Czasopismo naukowe
Tytuł :
Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics.
Autorzy :
Tebani A; Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France. .; Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France. .; Normandie Univ, UNIROUEN, INSA Rouen, CNRS, COBRA, 76000 Rouen, France. .
Abily-Donval L; Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France. .; Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, 76031 Rouen, France. .
Schmitz-Afonso I; Normandie Univ, UNIROUEN, INSA Rouen, CNRS, COBRA, 76000 Rouen, France. .
Piraud M; Service de Biochimie et Biologie Moléculaire Grand Est, Unité des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69002 Lyon, France. .
Ausseil J; INSERM U1088, Laboratoire de Biochimie Métabolique, Centre de Biologie Humaine, CHU Sud, 80054 Amiens CEDEX, France. .
Zerimech F; Laboratoire de Biochimie et Biologie Moléculaire, Université de Lille et Pôle de Biologie Pathologie Génétique du CHRU de Lille, 59000 Lille, France. .
Pilon C; Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France. .
Pereira T; Department of Pharmacology, Rouen University Hospital, 76000 Rouen, France. .
Marret S; Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France. .; Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, 76031 Rouen, France. .
Afonso C; Normandie Univ, UNIROUEN, INSA Rouen, CNRS, COBRA, 76000 Rouen, France. .
Bekri S; Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France. .; Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France. .
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2019 Jan 21; Vol. 20 (2). Date of Electronic Publication: 2019 Jan 21.
Typ publikacji :
Journal Article
MeSH Terms :
Metabolome*
Metabolomics*/methods
Mucopolysaccharidosis VI/*metabolism
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Computational Biology/methods ; Female ; Humans ; Male ; Metabolic Networks and Pathways ; Middle Aged ; Molecular Sequence Annotation ; Mucopolysaccharidosis VI/genetics ; Phenotype ; Young Adult
Czasopismo naukowe
Tytuł :
Medically uncontrolled intraocular pressure in mucopolysaccharidosis type VI.
Autorzy :
Hoang TT; Hanoi Medical University, Hanoi, Vietnam.
Bui AV; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam.
Burgess JD; University of Adelaide, Discipline of Ophthalmology and Visual Sciences, Adelaide, Australia.
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Źródło :
Clinical & experimental ophthalmology [Clin Exp Ophthalmol] 2019 Jan; Vol. 47 (1), pp. 144-145. Date of Electronic Publication: 2018 Jul 19.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Glaucoma Drainage Implants*
Intraocular Pressure/*physiology
Mucopolysaccharidosis VI/*complications
Ocular Hypertension/*etiology
Child ; Female ; Follow-Up Studies ; Humans ; Mucopolysaccharidosis VI/physiopathology ; Ocular Hypertension/physiopathology ; Ocular Hypertension/surgery
Raport
Tytuł :
Maroteaux-Lamy syndrome: a rare and challenging case of mitral valve replacement.
Autorzy :
Bell DJ; 1 Department of Cardiothoracic Surgery, The Prince Charles Hospital, Chermside, Australia.
He C; 1 Department of Cardiothoracic Surgery, The Prince Charles Hospital, Chermside, Australia.
Pauli JL; 2 Department of Anatomical Pathology, The Prince Charles Hospital, Chermside, Australia.
Naidoo R; 1 Department of Cardiothoracic Surgery, The Prince Charles Hospital, Chermside, Australia.
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Źródło :
Asian cardiovascular & thoracic annals [Asian Cardiovasc Thorac Ann] 2018 Sep; Vol. 26 (7), pp. 560-562. Date of Electronic Publication: 2016 Oct 18.
Typ publikacji :
Case Reports; Journal Article; Video-Audio Media
MeSH Terms :
Heart Valve Prosthesis Implantation/*methods
Mitral Valve/*surgery
Mitral Valve Stenosis/*surgery
Mucopolysaccharidosis VI/*complications
Adult ; Biopsy ; Echocardiography ; Female ; Humans ; Mitral Valve/diagnostic imaging ; Mitral Valve Stenosis/diagnosis ; Mitral Valve Stenosis/etiology ; Mucopolysaccharidosis VI/diagnosis
Czasopismo naukowe
Tytuł :
Applying the functional independence measure to the assessment of patients with mucopolysaccharidosis.
Autorzy :
Almeida Matos M; Escola Bahiana de Medicina e Saúde Pública, Salvador, Bahia, Brasil.
Silva Lopes P; Escola Bahiana de Medicina e Saúde Pública, Salvador, Bahia, Brasil.
Rodrigues Corsini A; Escola Bahiana de Medicina e Saúde Pública, Salvador, Bahia, Brasil.
Rodi J; University of Rochester Medical Center, Rochester-NY, USA.
Fong CT; University of Rochester Medical Center, Rochester-NY, USA.
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Źródło :
Colombia medica (Cali, Colombia) [Colomb Med (Cali)] 2020 Sep 30; Vol. 51 (3), pp. e213996. Date of Electronic Publication: 2020 Sep 30.
Typ publikacji :
Journal Article
MeSH Terms :
Functional Status*
Cognition/*physiology
Mucopolysaccharidoses/*physiopathology
Adolescent ; Body Height ; Body Weight ; Child ; Confidence Intervals ; Cross-Sectional Studies ; Female ; Humans ; Locomotion ; Male ; Mobility Limitation ; Mucopolysaccharidosis I/physiopathology ; Mucopolysaccharidosis II/physiopathology ; Mucopolysaccharidosis VI/physiopathology ; Self Care
Czasopismo naukowe
Tytuł :
Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome).
Autorzy :
Karir A; University of Ottawa Faculty of Medicine, Ottawa, ON, Canada.
Geraghty M; University of Ottawa Faculty of Medicine, Ottawa, ON, Canada.; Division of Metabolics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Vassilyadi M; University of Ottawa Faculty of Medicine, Ottawa, ON, Canada.; Division of Paediatric Neurosurgery, Department of Surgery, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Doja A; University of Ottawa Faculty of Medicine, Ottawa, ON, Canada.; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Pokaż więcej
Źródło :
Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2018 Jun 01; Vol. 8, pp. 548. Date of Electronic Publication: 2018 Jun 01 (Print Publication: 2018).
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Hemifacial Spasm/*etiology
Mucopolysaccharidosis VI/*complications
Anticonvulsants/therapeutic use ; Carbamazepine/therapeutic use ; Child, Preschool ; Female ; Head/diagnostic imaging ; Hemifacial Spasm/diagnostic imaging ; Hemifacial Spasm/drug therapy ; Humans ; Mucopolysaccharidosis VI/diagnostic imaging ; Mucopolysaccharidosis VI/drug therapy
Czasopismo naukowe

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