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Tytuł:
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
Autorzy:
Wasserstein MP; Children's Hospital at Montefiore and the Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA. .
Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Hollak C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Barbato A; Department of Clinical Medicine and Surgery, University of Naples 'Federico II', Naples, Italy.
Gallagher RC; Department of Pediatrics, The University of California San Francisco, San Francisco, CA, USA.
Giugliani R; Postgraduate Program in Genetics and Molecular Biology, Med Genet Serv & DR Brasil, HCPA, INAGEMP, DASA, and Casa Dos Raros, UFRGS, Porto Alegre, Brazil.
Guelbert NB; Reina Fabiola University Clinic, Córdoba, Argentina.
Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center, Mainz, Germany.
Ikezoe T; Department of Hematology, Fukushima Medical University, Fukushima, Japan.
Lidove O; Department of Internal Medicine, La Croix St Simon Hospital, Paris, France.
Mabe P; Clinica Santa Maria, Santiago, Chile.
Mengel E; Clinical Science for LSD, SpinCS, Hochheim, Germany.
Scarpa M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100, Udine, Italy.
Senates E; Istanbul Medeniyet University, Istanbul, Turkey.
Tchan M; Department of Genetic Medicine, Westmead Hospital, Sydney, Australia.
Villarrubia J; Hematology Department, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Thurberg BL; Sanofi, Cambridge, MA, USA.
Yarramaneni A; Sanofi, Bridgewater, NJ, USA.
Armstrong NM; Sanofi, Cambridge, MA, USA.
Kim Y; Sanofi, Paris, France.
Kumar M; Sanofi, Bridgewater, NJ, USA.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Dec 02; Vol. 18 (1), pp. 378. Date of Electronic Publication: 2023 Dec 02.
Typ publikacji:
Journal Article
MeSH Terms:
Niemann-Pick Disease, Type A*
Niemann-Pick Diseases*
Adult ; Humans ; Sphingomyelin Phosphodiesterase/therapeutic use ; Recombinant Proteins/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Autorzy:
Geberhiwot T; University Hospital Birmingham NHS Foundation Trust, Birmingham, UK. .; Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK. .
Wasserstein M; Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA.
Wanninayake S; University Hospital Birmingham NHS Foundation Trust, Birmingham, UK.
Bolton SC; University Hospital Birmingham NHS Foundation Trust, Birmingham, UK.
Dardis A; Regional Coordinator Centre for Rare Disease, AMC Hospital of Udine, Udine, Italy.
Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6T 1Z2, Canada.
Lidove O; Department of Internal Medicine, Hôpital de La Croix Saint Simon, Paris, France.
Dawson C; University Hospital Birmingham NHS Foundation Trust, Birmingham, UK.
Giugliani R; BioDiscovery and DR BRASIL Research Group, HCPA, Department of Genetics and PPGBM, UFRGS, INAGEMP, DASA, and Casa Dos Raros, Porto Alegre, Brazil.
Imrie J; International Niemann-Pick Disease Registry, Newcastle, UK.
Hopkin J; National Niemann-Pick Disease Foundation, Fort Atkinson, WI, USA.
Green J; International Niemann-Pick Disease Registry, Newcastle, UK.
de Vicente Corbeira D; ASMD España, Madrid, Spain.
Madathil S; Department of Respiratory Medicine, University Hospital Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK.
Mengel E; Institute of Clinical Science in LSD, SphinCS, Hochheim, Germany.
Ezgü F; Division of Pediatric Metabolism and Division of Pediatric Genetics, Department of Pediatrics, Gazi University Faculty of Medicine, 06560, Ankara, Turkey.
Pettazzoni M; Biochemistry and Molecular Biology and Reference Center for Inherited Metabolic Disorders, Hospices Civils de Lyon, 59 Boulevard Pinel, 69677, Bron Cedex, France.
Sjouke B; Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, Academic Medical Center, University of Amsterdam, F5-169, P.O. Box 22660, 1100 DD, Amsterdam, The Netherlands.
Hollak C; Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, Academic Medical Center, University of Amsterdam, F5-169, P.O. Box 22660, 1100 DD, Amsterdam, The Netherlands.
Vanier MT; INSERM, Hospices Civils de Lyon, Lyon, France.
McGovern M; Yale School of Medicine, New Haven, CT, USA.
Schuchman E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Room 14-20A, New York, NY, 10029, USA.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Apr 17; Vol. 18 (1), pp. 85. Date of Electronic Publication: 2023 Apr 17.
Typ publikacji:
Journal Article; Practice Guideline; Research Support, Non-U.S. Gov't
MeSH Terms:
Niemann-Pick Disease, Type A*/genetics
Niemann-Pick Diseases*
Adult ; Humans ; Consensus ; Mutation ; Sphingomyelin Phosphodiesterase/genetics ; Systematic Reviews as Topic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Autorzy:
Diaz GA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place, New York, NY, 10029, USA. .
Giugliani R; Medical Genetics Service HCPA, Department of Genetics UFRGS, DASA and Casa Dos Raros, Porto Alegre, Brazil.
Gufon N; Reference Centre of Inherited Metabolic Disease in Femme Mère Enfant Hospital, Hospices Civils of Lyon, Lyon, France.
Jones SA; Manchester University National Health Service Trust, St Mary's Hospital, Manchester, UK.
Mengel E; Institute of Clinical Science for Lysosomal Storage Disorders, SphinCS GmbH, Mainz, Germany.
Scarpa M; University Hospital of Udine, Udine, Italy.
Witters P; University Hospitals Leuven, Louvain, Belgium.
Yarramaneni A; Sanofi, Bridgewater, NJ, USA.
Li J; Sanofi, Bridgewater, NJ, USA.
Armstrong NM; Sanofi, Cambridge, MA, USA.
Kim Y; Sanofi, Paris, France.
Ortemann-Renon C; Sanofi, Bridgewater, NJ, USA.
Kumar M; Sanofi, Bridgewater, NJ, USA.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Mar 14; Vol. 18 (1), pp. 55. Date of Electronic Publication: 2023 Mar 14.
Typ publikacji:
Published Erratum
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Autorzy:
Diaz GA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place, New York, NY, 10029, USA. .
Giugliani R; Medical Genetics Service HCPA, Department of Genetics UFRGS, DASA and Casa dos Raros, Porto Alegre, Brazil.
Guffon N; Reference Centre of Inherited Metabolic Disease in Femme Mère Enfant Hospital, Hospices Civils of Lyon, Lyon, France.
Jones SA; Manchester University National Health Service Trust, St Mary's Hospital, Manchester, UK.
Mengel E; Institute of Clinical Science for Lysosomal Storage Disorders, SphinCS GmbH, Mainz, Germany.
Scarpa M; University Hospital of Udine, Udine, Italy.
Witters P; University Hospitals Leuven, Leuven, Belgium.
Yarramaneni A; Sanofi, Bridgewater, NJ, USA.
Li J; Sanofi, Bridgewater, NJ, USA.
Armstrong NM; Sanofi, Cambridge, MA, USA.
Kim Y; Sanofi, Paris, France.
Ortemann-Renon C; Sanofi, Bridgewater, NJ, USA.
Kumar M; Sanofi, Bridgewater, NJ, USA.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Dec 14; Vol. 17 (1), pp. 437. Date of Electronic Publication: 2022 Dec 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Niemann-Pick Disease, Type A*
Niemann-Pick Diseases*
Adolescent ; Humans ; Child ; Sphingomyelin Phosphodiesterase/therapeutic use ; Enzyme Replacement Therapy/methods ; Lipids
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective.
Autorzy:
Mengel E; Institute of Clinical Science for LSD, SphinCS GmbH, Hochheim, Germany.
Patterson MC; Mayo Clinic Children's Center, Rochester, MN, USA.
Chladek M; Clinical Outcomes Solutions, Chicago, IL, USA.
Guldberg C; Orphazyme A/S, Copenhagen, Denmark.
Í Dali C; Orphazyme A/S, Copenhagen, Denmark.
Symonds T; Clinical Outcomes Solutions, Folkestone, Kent, UK.
Lloyd-Price L; Clinical Outcomes Solutions, Folkestone, Kent, UK.
Mathieson T; Niemann-Pick UK, Washington, Tyne and Wear, UK.
Crowe J; National Niemann-Pick Disease Foundation, Fort Atkinson, WI, USA.
Burbridge C; Clinical Outcomes Solutions, Folkestone, Kent, UK. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Nov 24; Vol. 16 (1), pp. 493. Date of Electronic Publication: 2021 Nov 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Caregivers*
Niemann-Pick Disease, Type C*
Activities of Daily Living ; Adult ; Humans ; Infant ; Quality of Life ; Surveys and Questionnaires
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
Autorzy:
Mengel E; SphinCS GmbH, Institute of Clinical Science for LSD, Hochheim, Germany. eugen.mengel@sphincs.de.
Bembi B; Regional Coordinator Centre for Rare Diseases, Academic Hospital Santa Maria Della Misericordia, Udine, Italy.
Del Toro M; Vall D'Hebron University Hospital, Barcelona, Spain.
Deodato F; Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
Gautschi M; Inselspital, University Hospital of Bern, Bern, Switzerland.
Grunewald S; Metabolic Department, Great Ormond Street Hospital NHS Foundation Trust, Institute for Child Health, NIHR Biomedical Research Centre UCL, London, UK.
Grønborg S; Centre for Inherited Metabolic Diseases, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark.
Héron B; Reference Centre for Lysosomal Disease, Trousseau University Hospital, Paris, France.
Maier EM; Dr. Von Hauner Children's Hospital, University of Munich, Munich, Germany.
Roubertie A; Institute of Neurosciences, University Hospital of Montpellier, Montpellier, France.
Santra S; Birmingham Children's Hospital, Birmingham, UK.
Tylki-Szymanska A; Children's Memorial Health Institute, Warsaw, Poland.
Day S; Clinical Trials Consulting and Training Limited, Buckingham, UK.
Symonds T; Clinical Outcomes Solutions Limited, Folkestone, UK.
Hudgens S; Clinical Outcomes Solutions Inc, Tucson, AZ, USA.
Patterson MC; Mayo Clinic Children's Center, Rochester, MN, USA.
Guldberg C; Orphazyme A/S, Copenhagen, Denmark.
Ingemann L; Orphazyme A/S, Copenhagen, Denmark.
Petersen NHT; Orphazyme A/S, Copenhagen, Denmark.
Kirkegaard T; Orphazyme A/S, Copenhagen, Denmark.
Dali CÍ; Orphazyme A/S, Copenhagen, Denmark.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Jun 01; Vol. 16 (1), pp. 246. Date of Electronic Publication: 2021 Jun 01.
Typ publikacji:
Published Erratum
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale.
Autorzy:
Patterson MC; Mayo Clinic Children's Center, 200 1st St SW, Rochester, MN, 55905, USA. .
Lloyd-Price L; Clinical Outcomes Solutions, Folkestone, Kent, UK.
Guldberg C; Orphazyme A/S, Copenhagen, Denmark.
Doll H; Clinical Outcomes Solutions, Folkestone, Kent, UK.
Burbridge C; Clinical Outcomes Solutions, Folkestone, Kent, UK.
Chladek M; Clinical Outcomes Solutions, Chicago, IL, USA.
íDali C; Orphazyme A/S, Copenhagen, Denmark.
Mengel E; SphinCS GmbH, Institute of Clinical Science for LSD, Hochheim, Germany.
Symonds T; Clinical Outcomes Solutions, Folkestone, Kent, UK.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 12; Vol. 16 (1), pp. 79. Date of Electronic Publication: 2021 Feb 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Disabled Persons*
Niemann-Pick Disease, Type C*/diagnosis
Humans ; Psychometrics ; Reproducibility of Results ; Surveys and Questionnaires
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
Autorzy:
Mengel E; SphinCS GmbH, Institute of Clinical Science for LSD, Hochheim, Germany. eugen.mengel@sphincs.de.
Bembi B; Regional Coordinator Centre for Rare Diseases, Academic Hospital Santa Maria Della Misericordia, Udine, Italy.
Del Toro M; Vall D'Hebron University Hospital, Barcelona, Spain.
Deodato F; Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
Gautschi M; Inselspital, University Hospital of Bern, Bern, Switzerland.
Grunewald S; Metabolic Department, Great Ormond Street Hospital NHS Foundation Trust, Institute for Child Health, NIHR Biomedical Research Centre UCL, London, UK.
Grønborg S; Centre for Inherited Metabolic Diseases, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark.
Héron B; Reference Centre for Lysosomal Disease, Trousseau University Hospital, Paris, France.
Maier EM; Dr. Von Hauner Children's Hospital, University of Munich, Munich, Germany.
Roubertie A; Institute of Neurosciences, University Hospital of Montpellier, Montpellier, France.
Santra S; Birmingham Children's Hospital, Birmingham, UK.
Tylki-Szymanska A; Children's Memorial Health Institute, Warsaw, Poland.
Day S; Clinical Trials Consulting & Training Limited, Buckingham, UK.
Symonds T; Clinical Outcomes Solutions Limited, Folkestone, UK.
Hudgens S; Clinical Outcomes Solutions Inc, Tucson, AZ, USA.
Patterson MC; Mayo Clinic Children's Center, Rochester, MN, USA.
Guldberg C; Orphazyme A/S, Copenhagen, Denmark.
Ingemann L; Orphazyme A/S, Copenhagen, Denmark.
Petersen NHT; Orphazyme A/S, Copenhagen, Denmark.
Kirkegaard T; Orphazyme A/S, Copenhagen, Denmark.
Í Dali C; Orphazyme A/S, Copenhagen, Denmark.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Nov 23; Vol. 15 (1), pp. 328. Date of Electronic Publication: 2020 Nov 23.
Typ publikacji:
Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Neurodegenerative Diseases*
Niemann-Pick Disease, Type C*
Biomarkers ; Disease Progression ; Humans ; Leukocytes, Mononuclear ; Prospective Studies ; Reproducibility of Results
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry.
Autorzy:
Patterson MC; Department of Neurology, Mayo Clinic, 200 first Street SW, Rochester, MN, 55905, USA. .
Mengel E; Villa Metabolica, University of Mainz, Mainz, Germany.; Present Address: SphinCS GmbH, Hochheim, Germany.
Vanier MT; INSERM Unit 820, Faculté de Médecine RTH Laennec, Lyon, France.
Moneuse P; Actelion Pharmaceuticals Ltd., A Janssen Pharmaceutical Company of Johnson & Johnson, Allschwil, Switzerland.
Rosenberg D; Actelion Pharmaceuticals Ltd., A Janssen Pharmaceutical Company of Johnson & Johnson, Allschwil, Switzerland.
Pineda M; Institut Pediatric Hospital Sant Joan, Hospital Sant Joan de Déu, Passeig de Sant Joan de Deu, 2, 08950, Esplugues de Llobregat, Barcelona, Spain.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Apr 25; Vol. 15 (1), pp. 104. Date of Electronic Publication: 2020 Apr 25.
Typ publikacji:
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Niemann-Pick Disease, Type C*/drug therapy
1-Deoxynojirimycin/analogs & derivatives ; 1-Deoxynojirimycin/therapeutic use ; Adolescent ; Adult ; Enzyme Inhibitors ; Female ; Humans ; Male ; Prospective Studies ; Registries ; Treatment Outcome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Consensus clinical management guidelines for Niemann-Pick disease type C.
Autorzy:
Geberhiwot T; Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK. .
Moro A; AMC Hospital of Udine, Udine, Italy.
Dardis A; AMC Hospital of Udine, Udine, Italy.
Ramaswami U; Royal Free London NHS Foundation Trust, London, UK.
Sirrs S; Vancouver General Hospital, Vancouver, Canada.
Marfa MP; Hospital Sant Joan de Deu, Barcelona, Spain.
Vanier MT; INSERM U820, Université de Lyon, Faculté de Médecine Lyon-Est, Lyon, 69372, France.
Walterfang M; Royal Melbourne Hospital, Parkville, Australia.
Bolton S; University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Dawson C; University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Héron B; Department of Pediatric Neurology, Reference Center of Lysosomal Diseases, Trousseau Hospital, APHP, GRC ConCer-LD, Sorbonne Universities, UPMC University 06, Paris, France.
Stampfer M; Universitatsklinikum Tubingen Institut fur Medizinische Genetik undangewandte Genomik, Tubingen, Germany.
Imrie J; Niemann-Pick UK, Washington, UK.
Hendriksz C; Salford Royal NHS Foundation Trust, Salford, UK.
Gissen P; MRC Laboratory for Molecular Cell Biology, London, UK.
Crushell E; Children's University Hospital, Dublin, Republic of Ireland.
Coll MJ; Hospital Clinic de Barcelona, Barcelona, Spain.
Nadjar Y; Hopital Universitaire Pitie Salpetriere, Paris, France.
Klünemann H; Universitatsklinikum Regensburg Klinik und Poliklinik fur Chirurgie, Regensburg, Germany.
Mengel E; Universitatmedizin Mainz, Mainz, Germany.
Hrebicek M; Charlies University in Prague, Prague, Czech Republic.
Jones SA; Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Ory D; University of Washington School of Medicine, Seattle, USA.
Bembi B; AMC Hospital of Udine, Udine, Italy.
Patterson M; Mayo 1290 Clinic Department of Pediatric and Adolescent Medicine, Minnesota, USA.
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Corporate Authors:
International Niemann-Pick Disease Registry (INPDR)
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Apr 06; Vol. 13 (1), pp. 50. Date of Electronic Publication: 2018 Apr 06.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Practice Guidelines as Topic*
Niemann-Pick Disease, Type C/*therapy
Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
Autorzy:
Byrne BJ; University of Florida, School of Medicine, 1600 SW Archer Road, Gainesville, FL, 32607, USA. .; Department of Pediatrics, University of Florida, P.O. Box 100296, Gainesville, FL, 32610, USA. .
Geberhiwot T; University Hospital Birmingham, Mindelsohn Way, Edgbaston, Birmingham, B15 2GW, UK.
Barshop BA; University of California San Diego Health System, 4168 Front Street, San Diego, CA, 92103, USA.
Barohn R; Kansas University Medical Center, 3901 Rainbow Blvd/MSN 2012, Kansas City, KS, 66160, USA.
Hughes D; Royal Free London NHS Foundation & University College London Department of Hematology, Pond St, London, NW3 2QG, UK.
Bratkovic D; SA Pathology, Frome Rd, Adelaide, SA, 5000, Australia.
Desnuelle C; University Hospital of Nice, Pasteur Hospital, Nice, France.
Laforet P; Paris-Est Neuromuscular Center, INSERM U974, UPMC, Hôpital Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75013, Paris, France.
Mengel E; Johannes Gutenberg University, Langenbeckstr. 1, 55131, Mainz, Germany.
Roberts M; Salford Royal NHS Foundation Trust, M6 8HD, Salford, UK.
Haroldsen P; BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.
Reilley K; BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.
Jayaram K; BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.
Yang K; BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.
Walsh L; BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.
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Corporate Authors:
POM-001/002 Investigators
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Aug 24; Vol. 12 (1), pp. 144. Date of Electronic Publication: 2017 Aug 24.
Typ publikacji:
Clinical Trial, Phase I; Clinical Trial, Phase II; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Glycogen Storage Disease Type II/*drug therapy
alpha-Glucosidases/*adverse effects
alpha-Glucosidases/*therapeutic use
Adult ; Enzyme Replacement Therapy/adverse effects ; Female ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/drug effects ; Muscle, Skeletal/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.
Autorzy:
Patterson MC; Department of Neurology, Mayo Clinic, 200 first Street SW, Rochester, MN, 55905, USA. .
Mengel E; Villa Metabolica, University of Mainz, Mainz, Germany. eugen.mengel@unimedizin-mainz.de.
Vanier MT; INSERM Unit 820, Lyon, France. .
Schwierin B; Actelion Pharmaceuticals Ltd, Allschwil, Switzerland. .
Muller A; Actelion Pharmaceuticals Ltd, Allschwil, Switzerland. .
Cornelisse P; Actelion Pharmaceuticals Ltd, Allschwil, Switzerland. .
Pineda M; Fundació Hospital Sant Joan de Déu, CIBERER, Barcelona, Spain. .
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Corporate Authors:
NPC Registry investigators
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 May 28; Vol. 10, pp. 65. Date of Electronic Publication: 2015 May 28.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
1-Deoxynojirimycin/*analogs & derivatives
Enzyme Inhibitors/*therapeutic use
Niemann-Pick Disease, Type C/*drug therapy
1-Deoxynojirimycin/therapeutic use ; Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Disease Progression ; Female ; Humans ; Male ; Niemann-Pick Disease, Type C/pathology ; Prospective Studies ; Treatment Outcome ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Niemann-Pick disease type C symptomatology: an expert-based clinical description.
Autorzy:
Mengel E; Department of Lysosomal Storage Disorder, Villa Metabolica, Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Langenbeckstrasse 1, 55131 Mainz, Germany. mengel@kinder.klinik.uni-mainz.de.
Klünemann HH
Lourenço CM
Hendriksz CJ
Sedel F
Walterfang M
Kolb SA
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Oct 17; Vol. 8, pp. 166. Date of Electronic Publication: 2013 Oct 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Niemann-Pick Disease, Type C/*diagnosis
Female ; Humans ; Male ; Niemann-Pick Disease, Type C/physiopathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
Autorzy:
Yildiz Y; Department of Internal Medicine I, University Clinic of Bonn, Bonn, Germany. .
Hoffmann P
Vom Dahl S
Breiden B
Sandhoff R
Niederau C
Horwitz M
Karlsson S
Filocamo M
Elstein D
Beck M
Sandhoff K
Mengel E
Gonzalez MC
Nöthen MM
Sidransky E
Zimran A
Mattheisen M
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Sep 26; Vol. 8, pp. 151. Date of Electronic Publication: 2013 Sep 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gaucher Disease/*genetics
Glucosylceramidase/*genetics
Animals ; Cells, Cultured ; Fibroblasts/metabolism ; Genotype ; Mice ; Mice, Knockout ; Polymorphism, Single Nucleotide/genetics ; Reverse Transcriptase Polymerase Chain Reaction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Disease and patient characteristics in NP-C patients: findings from an international disease registry.
Autorzy:
Patterson MC; Mayo Clinic, Rochester, MN, USA. />Mengel E
Wijburg FA
Muller A
Schwierin B
Drevon H
Vanier MT
Pineda M
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Jan 16; Vol. 8, pp. 12. Date of Electronic Publication: 2013 Jan 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Registries*
Niemann-Pick Disease, Type C/*physiopathology
1-Deoxynojirimycin/analogs & derivatives ; 1-Deoxynojirimycin/therapeutic use ; Adolescent ; Age of Onset ; Child ; Child, Preschool ; Disabled Persons ; Enzyme Inhibitors/therapeutic use ; Female ; Humans ; Infant ; Male ; Mutation ; Niemann-Pick Disease, Type C/drug therapy ; Niemann-Pick Disease, Type C/genetics ; Prospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.
Autorzy:
Whybra C; Department of Neonatology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany. />Mengel E
Russo A
Bahlmann F
Kampmann C
Beck M
Eich E
Mildenberger E
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2012 Nov 08; Vol. 7, pp. 86. Date of Electronic Publication: 2012 Nov 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Hydrops Fetalis/*physiopathology
Lysosomal Storage Diseases/*diagnosis
Female ; Humans ; Hydrops Fetalis/epidemiology ; Lysosomal Storage Diseases/epidemiology ; Male ; Pregnancy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Autorzy:
Herzog A; Center for Pediatric and Adolescent Medicine, University Medical Center, Mainz, Germany.
Hartung R
Reuser AJ
Hermanns P
Runz H
Karabul N
Gökce S
Pohlenz J
Kampmann C
Lampe C
Beck M
Mengel E
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2012 Jun 07; Vol. 7, pp. 35. Date of Electronic Publication: 2012 Jun 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Mutation*
Glycogen Storage Disease Type II/*genetics
Glycogen Storage Disease Type II/*physiopathology
alpha-Glucosidases/*genetics
Adolescent ; Adult ; Cardiomyopathy, Hypertrophic/enzymology ; Cardiomyopathy, Hypertrophic/genetics ; Cardiomyopathy, Hypertrophic/physiopathology ; Cardiomyopathy, Hypertrophic/therapy ; Cross-Sectional Studies ; Enzyme Replacement Therapy ; Female ; Genetic Association Studies ; Germany ; Glycogen Storage Disease Type II/enzymology ; Glycogen Storage Disease Type II/therapy ; Humans ; Infant, Newborn ; Male ; Middle Aged ; Muscle, Skeletal/physiopathology ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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