Temat: "Mucopolysaccharidosis VI" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases.
Autorzy:: Tobacman JK; Jesse Brown VA Medical Center, University of Illinois at Chicago, Chicago, IL 60612, USA.
Bhattacharyya S; Jesse Brown VA Medical Center, University of Illinois at Chicago, Chicago, IL 60612, USA.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Oct 29; Vol. 23 (21). Date of Electronic Publication: 2022 Oct 29.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Mucopolysaccharidosis VI*/genetics
Mucopolysaccharidosis VI*/metabolism
N-Acetylgalactosamine-4-Sulfatase*/genetics
N-Acetylgalactosamine-4-Sulfatase*/metabolism
Humans ; Chondroitin Sulfates/metabolism ; Dermatan Sulfate ; Sulfates

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 2.

Tytuł:: Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI.
Autorzy:: Kowalski T; Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.
Donoghue S; Metabolic Diseases Unit, Royal Melbourne Hospital, Melbourne Health, Parkville, Australia.; Department of Biochemical Genetics, Victorian Clinical Genetic Services, Parkville, Australia.
de Jong G; Metabolic Diseases Unit, Royal Melbourne Hospital, Melbourne Health, Parkville, Australia.; Department of Medicine, Melbourne Medical School, University of Melbourne, Parkville, Australia.
Mack HG; Centre for Eye Research Australia, East Melbourne, Australia.; Department of Surgery (Ophthalmology), University of Melbourne, Parkville, Australia.; Eye Surgery Associates, East Melbourne, Australia.; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2022 Oct; Vol. 43 (5), pp. 693-698. Date of Electronic Publication: 2022 Jun 06.
Typ publikacji:: Journal Article
MeSH Terms:: Corneal Opacity*
Mucopolysaccharidosis VI*/diagnosis
Mucopolysaccharidosis VI*/drug therapy
Cornea ; Enzyme Replacement Therapy/methods ; Female ; Humans ; Male ; Siblings

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 3.

Tytuł:: Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.
Autorzy:: Różdżyńska-Świątkowska A; Anthropology Laboratory, Children's Memorial Health Institute, Warsaw, Poland. .
Zielińska A; Anthropology Laboratory, Children's Memorial Health Institute, Warsaw, Poland.
Tylki-Szymańska A; Department of Paediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Sep 05; Vol. 17 (1), pp. 339. Date of Electronic Publication: 2022 Sep 05.
Typ publikacji:: Journal Article
MeSH Terms:: Mucopolysaccharidoses*
Mucopolysaccharidosis I*
Mucopolysaccharidosis III*
Mucopolysaccharidosis IV*
Mucopolysaccharidosis VI*
Child ; Humans ; Retrospective Studies

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 4.

Tytuł:: Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study.
Autorzy:: Sestito S; Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.
Rinninella G; Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.
Rampazzo A; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, Padua, Italy.
D'Avanzo F; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, Padua, Italy.; Fondazione Istituto di Ricerca Pediatrica Città Della Speranza, Padua, Italy.
Zampini L; Division of Pediatrics, Department of Clinical Sciences, Ospedali Riuniti, Presidio Salesi, Polytechnic University of Marche, Ancona, Italy.
Santoro L; Division of Pediatrics, Department of Clinical Sciences, Ospedali Riuniti, Presidio Salesi, Polytechnic University of Marche, Ancona, Italy.
Gabrielli O; Division of Pediatrics, Department of Clinical Sciences, Ospedali Riuniti, Presidio Salesi, Polytechnic University of Marche, Ancona, Italy.
Fiumara A; Department of Clinical and Experimental Medicine, Child Neurology and Psychiatry, University of Catania, Catania, Italy.
Barone R; Department of Clinical and Experimental Medicine, Child Neurology and Psychiatry, University of Catania, Catania, Italy.
Volpi N; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Scarpa M; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, Padua, Italy.; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.
Tomanin R; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, Padua, Italy.; Fondazione Istituto di Ricerca Pediatrica Città Della Speranza, Padua, Italy.
Concolino D; Pediatric Unit, Department of Science of Health, Magna Graecia University, Catanzaro, Italy. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jun 29; Vol. 17 (1), pp. 251. Date of Electronic Publication: 2022 Jun 29.
Typ publikacji:: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:: Heart Injuries*/drug therapy
Mitral Valve Insufficiency*/drug therapy
Mucopolysaccharidoses*/drug therapy
Mucopolysaccharidosis II*/drug therapy
Mucopolysaccharidosis VI*/drug therapy
Enzyme Replacement Therapy ; Humans ; Incidence

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 5.

Tytuł:: A novel approach in diagnosing multiple dentigerous cysts using CBCT illustration indicative of Mucopolysaccharidosis VI - a case report.
Autorzy:: Rai S; Department of Oral Medicine and Radiology, Institute of Dental Studies and Technologies, Kadrabad, India.
Misra D; Department of Oral Medicine and Radiology, Institute of Dental Studies and Technologies, Kadrabad, India.
Misra A; Department of Oral Pathology, Institute of Dental Studies and Technologies, Kadrabad, India.
Jain A; Department of Oral Medicine and Radiology, DJ Dental College and Research Centre, Modinagar, India.
Verma A; Department of Periodontology, Sudha Rastogi College of Dental Sciences and Research, Faridabad, India.
Grover D; Department of Oral and Maxillofacial Surgery, Sudha Rastogi College of Dental Sciences and Research, Faridabad, India.
Haris A; Project Officer, Institute of Liver and Biliary Sciences, Delhi, India.; Pokaż więcej
Źródło:: Journal of medicine and life [J Med Life] 2022 Apr; Vol. 15 (4), pp. 579-586.
Typ publikacji:: Case Reports
MeSH Terms:: Dentigerous Cyst*/complications
Dentigerous Cyst*/diagnostic imaging
Macroglossia*/complications
Mucopolysaccharidosis VI*/complications
Mucopolysaccharidosis VI*/diagnostic imaging
Mucopolysaccharidosis VI*/pathology
Spiral Cone-Beam Computed Tomography*
Adolescent ; Glycosaminoglycans ; Humans ; Male

Raport

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 6.

Tytuł:: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients.
Autorzy:: Leiro B; Phillips Consulting, Chapel Hill, NC, USA. .
Phillips D; Phillips Consulting, Chapel Hill, NC, USA.
Duiker M; Paradigm Biopharmaceuticals Limited, Melbourne, VIC, Australia.
Harmatz P; UCSF Benioff Children's Hospital, Oakland, CA, USA.
Charles S; Paradigm Biopharmaceuticals Limited, Melbourne, VIC, Australia.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Dec 02; Vol. 16 (1), pp. 500. Date of Electronic Publication: 2021 Dec 02.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Activities of Daily Living*
Mucopolysaccharidosis VI*/complications
Mucopolysaccharidosis VI*/drug therapy
N-Acetylgalactosamine-4-Sulfatase*
Quality of Life*
Caregivers ; Child ; Enzyme Replacement Therapy ; Focus Groups ; Humans ; Motor Skills Disorders/etiology ; Pain/etiology ; Treatment Outcome

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 7.

Tytuł:: Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA.
Autorzy:: Bruce IA; Department of Paediatric Otolaryngology, Royal Manchester Children's Hospital, Manchester Academic Health Service (MAHSC), Manchester, UK.
Ezgü FS; Metabolism Unit, Department of Pediatrics, Gazi University, Ankara, Turkey.
Kampmann C; Division of Cardiology, University Children's Hospital, Johannes Guterberg Universität, Mainz, Germany.
Kenis V; Department of Foot and Ankle Surgery, Neuroorthopaedics and Skeletal Dysplasias, H. Turner National Medical Research Center for Children's Orthopedics and Trauma Surgery, Saint Petersburg, Russia.
Mackenzie W; Department of Orthopedics, Nemours/Alfred I, Dupont Hospital for Children, Wilmington, Delaware, USA.
Stevens B; MPS Society, Amersham, Buckinghamshire, UK.
Walker R; Department of Paediatric Anaesthesia, Royal Manchester Children's Hospital, Manchester, UK.
Hendriksz C; Steve Biko Academic Unit, Department of Pediatrics, University of Pretoria, Pretoria, South Africa. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Mar 02; Vol. 17 (1), pp. 91. Date of Electronic Publication: 2022 Mar 02.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:: Mucopolysaccharidosis IV*
Mucopolysaccharidosis VI*
Humans ; Patient Education as Topic

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 8.

Tytuł:: Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
Autorzy:: D'Avanzo F; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy.
Zanetti A; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy.
De Filippis C; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy.
Tomanin R; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2021 Dec 15; Vol. 22 (24). Date of Electronic Publication: 2021 Dec 15.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Mucopolysaccharidosis VI/*genetics
Mucopolysaccharidosis VI/*physiopathology
Chondroitin Sulfates/therapeutic use ; Enzyme Replacement Therapy ; Glycosaminoglycans/therapeutic use ; Humans ; Mucopolysaccharidosis VI/therapy ; N-Acetylgalactosamine-4-Sulfatase/genetics

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 9.

Tytuł:: Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report.
Autorzy:: Andrade I; Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Rua Abrahão Issa Halach, 980, Ribeirânia, Ribeirão Preto, SP, 14096-160, Brazil.
Ribeiro R; Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Rua Abrahão Issa Halach, 980, Ribeirânia, Ribeirão Preto, SP, 14096-160, Brazil.
Carneiro ZA; Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Rua Abrahão Issa Halach, 980, Ribeirânia, Ribeirão Preto, SP, 14096-160, Brazil.
Giugliani R; Serviço de Genética Médica e Grupo de Pesquisa DR BRASIL, Hospital das Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Pereira C; Centogene AG, Rostock, Germany.
Cozma C; Centogene AG, Rostock, Germany.
Grinberg D; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain.
Vilageliu L; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain.
Lourenco CM; Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Rua Abrahão Issa Halach, 980, Ribeirânia, Ribeirão Preto, SP, 14096-160, Brazil. .; Pokaż więcej
Źródło:: Journal of medical case reports [J Med Case Rep] 2022 Jan 25; Vol. 16 (1), pp. 46. Date of Electronic Publication: 2022 Jan 25.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Carpal Tunnel Syndrome*
Mucopolysaccharidosis VI*/drug therapy
Adolescent ; Adult ; Enzyme Replacement Therapy ; Glycosaminoglycans/therapeutic use ; Humans ; Male ; Quality of Life

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 10.

Tytuł:: Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series.
Autorzy:: İnci A; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Faculty of Medicine, Gazi University, Mevlana Bulvarı No 29, Emniyet Mahallesi, Yenimahalle, Ankara, 06560, Turkey.
Okur İ; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Faculty of Medicine, Gazi University, Mevlana Bulvarı No 29, Emniyet Mahallesi, Yenimahalle, Ankara, 06560, Turkey.
Tümer L; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Faculty of Medicine, Gazi University, Mevlana Bulvarı No 29, Emniyet Mahallesi, Yenimahalle, Ankara, 06560, Turkey.
Biberoğlu G; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Faculty of Medicine, Gazi University, Mevlana Bulvarı No 29, Emniyet Mahallesi, Yenimahalle, Ankara, 06560, Turkey.
Öktem M; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Faculty of Medicine, Gazi University, Mevlana Bulvarı No 29, Emniyet Mahallesi, Yenimahalle, Ankara, 06560, Turkey.
Ezgü F; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Faculty of Medicine, Gazi University, Mevlana Bulvarı No 29, Emniyet Mahallesi, Yenimahalle, Ankara, 06560, Turkey. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 19; Vol. 16 (1), pp. 438. Date of Electronic Publication: 2021 Oct 19.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Mucopolysaccharidosis VI*/drug therapy
N-Acetylgalactosamine-4-Sulfatase*
Adolescent ; Child ; Child, Preschool ; Enzyme Replacement Therapy ; Humans ; Radiography ; Retrospective Studies ; Turkey

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 11.

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.; Pokaż więcej
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

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 12.

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.; Pokaż więcej
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

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 13.

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. .; Pokaż więcej
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

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 14.

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.; Pokaż więcej
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

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 15.

Tytuł:: Atypical Presentation of Acute Angle-Closure Glaucoma in Maroteaux-Lamy Mucopolysaccharidosis with Patent Prophylactic Laser Peripheral Iridotomy: A Case Report.
Autorzy:: Veerappan M; Recent graduate from the Duke University School of Medicine in Durham, NC. .
Chak G; Clinical Associate in Ophthalmology at the Duke Eye Center at Duke University Medical Center in Durham, NC, and at the Kaiser Permanente West Los Angeles Medical Center in CA. .
Shieh C; Clinical Associate in Ophthalmology at the Duke Eye Center at Duke University Medical Center in Durham, NC. .
Challa P; Associate Professor of Ophthalmology at the Duke University School of Medicine in Durham, NC. .; Pokaż więcej
Źródło:: The Permanente journal [Perm J] 2017; Vol. 21, pp. 17-012.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Acetazolamide/*therapeutic use
Carbonic Anhydrase Inhibitors/*therapeutic use
Glaucoma, Angle-Closure/*drug therapy
Glaucoma, Angle-Closure/*surgery
Mucopolysaccharidosis VI/*complications
Mucopolysaccharidosis VI/*surgery
Adult ; Female ; Glaucoma, Angle-Closure/etiology ; Glaucoma, Angle-Closure/physiopathology ; Humans ; Iridectomy/methods ; Laser Therapy/methods ; Mucopolysaccharidosis VI/physiopathology ; Treatment Outcome

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 16.

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. .; Pokaż więcej
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

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 17.

Tytuł:: Aortic Root Dilatation in Mucopolysaccharidosis I-VII.
Autorzy:: Bolourchi M; Department of Pediatrics, Children's Hospital of Orange County, Orange, CA 92868, USA. .; Department of Pediatrics, University of California-Irvine School of Medicine, Orange, CA 92868, USA. .
Renella P; Department of Pediatrics, Children's Hospital of Orange County, Orange, CA 92868, USA. .; Department of Pediatrics, University of California-Irvine School of Medicine, Orange, CA 92868, USA. .; Pediatric Heart Institute, Children's Hospital of Orange County, Orange, CA 92868, USA. .
Wang RY; Department of Pediatrics, University of California-Irvine School of Medicine, Orange, CA 92868, USA. .; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA 92868, USA. .; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2016 Nov 29; Vol. 17 (12). Date of Electronic Publication: 2016 Nov 29.
Typ publikacji:: Journal Article
MeSH Terms:: Aortic Diseases/*diagnosis
Dilatation, Pathologic/*diagnosis
Mucopolysaccharidosis I/*pathology
Mucopolysaccharidosis II/*pathology
Mucopolysaccharidosis III/*pathology
Mucopolysaccharidosis IV/*pathology
Mucopolysaccharidosis VI/*pathology
Mucopolysaccharidosis VII/*pathology
Adolescent ; Adult ; Aorta/metabolism ; Aorta/pathology ; Aortic Diseases/drug therapy ; Aortic Diseases/therapy ; Child ; Dilatation, Pathologic/drug therapy ; Dilatation, Pathologic/therapy ; Female ; Humans ; Male ; Mucopolysaccharidosis I/metabolism ; Mucopolysaccharidosis II/metabolism ; Mucopolysaccharidosis III/metabolism ; Mucopolysaccharidosis IV/metabolism ; Mucopolysaccharidosis VI/metabolism ; Mucopolysaccharidosis VII/metabolism ; Retrospective Studies ; Young Adult

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 18.

Tytuł:: Mucopolysaccharidosis VI in cats - clarification regarding genetic testing.
Autorzy:: Lyons LA; Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri - Columbia, Columbia, MO, 65211, USA. .
Grahn RA; Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California - Davis, Davis, CA, USA.
Genova F; Department of Veterinary Medicine, University of Milan, Milan, Italy.
Beccaglia M; Ambulatorio Veterinario, Lissone, Monza e Brianza, Italy.
Hopwood JJ; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute, Adelaide, Australia.
Longeri M; Department of Veterinary Medicine, University of Milan, Milan, Italy.; Pokaż więcej
Źródło:: BMC veterinary research [BMC Vet Res] 2016 Jul 02; Vol. 12 (1), pp. 136. Date of Electronic Publication: 2016 Jul 02.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Variation*
Cat Diseases/*genetics
Genetic Testing/*veterinary
Mucopolysaccharidosis VI/*veterinary
Animals ; Breeding ; Cat Diseases/prevention & control ; Cats ; Genetic Testing/ethics ; Genetic Testing/standards ; Genotype ; Mucopolysaccharidosis VI/genetics

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 19.

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.; Pokaż więcej
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

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 20.

Tytuł:: Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
Autorzy:: Uttarilli A
Ranganath P
Jain SJ
Prasad CK
Sinha A
Verma IC
Phadke SR
Puri RD
Danda S
Muranjan MN
Jevalikar G
Nagarajaram HA
Dalal AB; Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India.; Pokaż więcej
Źródło:: The Indian journal of medical research [Indian J Med Res] 2015 Oct; Vol. 142 (4), pp. 414-25.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Association Studies*
Genetic Predisposition to Disease*
Mucopolysaccharidosis VI/*genetics
N-Acetylgalactosamine-4-Sulfatase/*genetics
Child ; Child, Preschool ; Exons/genetics ; Female ; Haplotypes ; Humans ; India ; Infant ; Male ; Mucopolysaccharidosis VI/pathology ; Mutation

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Informacja

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

Źródło danych

Ogranicz do:

Ogranicz do bazy

Typ dokumentu

Temat

Wydawca

Publikacja

Język