Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

English (EN)·Polski (PL)·Ukraiński (UK)
Przejdź do strony domowej biblioteki Uniwersytet Ekonomiczny we Wrocławiu Link otwiera się w nowym oknie Logo biblioteki Prolib Integro - strona głównaUniwersytet Ekonomiczny we Wrocławiu

Wyszukujesz frazę ""Hollak CE"" wg kryterium: Autor

  Lista filtrów
Wyrównaj
Wyświetlanie 1-20 z 28
Tytuł:
Erratum to: Pain management strategies for neuropathic pain in Fabry disease - a systematic review.
Autorzy:
Schuller Y; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Centre, Room F5-166, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.
Linthorst GE; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Centre, Room F5-166, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.
Hollak CE; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Centre, Room F5-166, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.
Van Schaik IN; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Centre, Room F5-166, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.
Biegstraaten M; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Centre, Room F5-166, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands. .
Pokaż więcej
Źródło:
BMC neurology [BMC Neurol] 2016 May 16; Vol. 16, pp. 67. Date of Electronic Publication: 2016 May 16.
Typ publikacji:
Published Erratum
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.
Autorzy:
Smid BE; Department of Endocrinology and Metabolism, Academic Medical Centre, Amsterdam, The Netherlands.
Ferraz MJ; Department of Medical Biochemistry, Academic Medical Centre, Amsterdam, The Netherlands.
Verhoek M; Department of Biochemistry, Leiden Institute of Chemistry, Leiden University, Leiden, The Netherlands.
Mirzaian M; Department of Medical Biochemistry, Academic Medical Centre, Amsterdam, The Netherlands.
Wisse P; Department of Bio-Organic Synthesis, Leiden Institute of Chemistry, Leiden University, Leiden, The Netherlands.
Overkleeft HS; Department of Bio-Organic Synthesis, Leiden Institute of Chemistry, Leiden University, Leiden, The Netherlands.
Hollak CE; Department of Endocrinology and Metabolism, Academic Medical Centre, Amsterdam, The Netherlands.
Aerts JM; Department of Biochemistry, Leiden Institute of Chemistry, Leiden University, Leiden, The Netherlands. .; Leiden Institute of Chemistry, Gorlaeus Laboratory, room number 0.3.15, Einsteinweg 55, 2300 RA, Leiden, The Netherlands. .
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 Mar 24; Vol. 11, pp. 28. Date of Electronic Publication: 2016 Mar 24.
Typ publikacji:
Journal Article
MeSH Terms:
Enzyme Replacement Therapy/*methods
Gaucher Disease/*drug therapy
Gaucher Disease/*enzymology
1-Deoxynojirimycin/analogs & derivatives ; 1-Deoxynojirimycin/therapeutic use ; Enzyme Inhibitors/therapeutic use ; Female ; Glucosylceramidase/antagonists & inhibitors ; Glucosylceramidase/metabolism ; Glucosylceramides/metabolism ; Humans ; Male ; Pyrrolidines/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Pain management strategies for neuropathic pain in Fabry disease--a systematic review.
Autorzy:
Schuller Y; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Centre, Room F5-166, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands. .
Linthorst GE; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Centre, Room F5-166, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands. .
Hollak CE; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Centre, Room F5-166, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands. c.e.hollak@amc.nl.
Van Schaik IN; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Centre, Room F5-166, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands. .
Biegstraaten M; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Centre, Room F5-166, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands. .
Pokaż więcej
Źródło:
BMC neurology [BMC Neurol] 2016 Feb 24; Vol. 16, pp. 25. Date of Electronic Publication: 2016 Feb 24.
Typ publikacji:
Journal Article; Review; Systematic Review
MeSH Terms:
Anticonvulsants/*therapeutic use
Fabry Disease/*drug therapy
Neuralgia/*drug therapy
Amines/therapeutic use ; Carbamazepine/therapeutic use ; Cyclohexanecarboxylic Acids/therapeutic use ; Gabapentin ; Humans ; Neuralgia/etiology ; Phenytoin/therapeutic use ; gamma-Aminobutyric Acid/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.
Autorzy:
Hollak CE; Department of Internal Medicine, Division of Endocrinology and Metabolism, SPHINX, Amsterdam Lysosome Center, Academic Medical Center, Amsterdam, The Netherlands. c.e.hollak@amc.nl.
Biegstraaten M; Department of Internal Medicine, Division of Endocrinology and Metabolism, SPHINX, Amsterdam Lysosome Center, Academic Medical Center, Amsterdam, The Netherlands.
Baumgartner MR; Division of Metabolism & Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland.
Belmatoug N; Department of Internal Medicine, Referral Center for Lysosomal Diseases, Hôpitaux Universitaires Paris Nord Val-de-Seine, Beaujon Assistance Publique-Hôpitaux de Paris, Clichy, France.
Bembi B; Centre for Rare Diseases, Academic Medical Centre Hospital 'Santa Maria della Misericordia', Udine, Italy.
Bosch A; Department of Pediatric Metabolic Disorders, Academic Medical Center, Amsterdam, Netherlands.
Brouwers M; Department of Internal Medicine, Division of Endocrinology and Metabolic Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands.
Dekker H; VKS: Dutch Patient Organization for Metabolic Diseases, Zwolle, The Netherlands.
Dobbelaere D; Medical Reference Center for Inherited Metabolic Diseases, Jeanne de Flandre University Hospital and RADEME Research Team for Rare Metabolic and Developmental Diseases, EA 7364 CHRU Lille, 59037, Lille, France.
Engelen M; Department of Neurology and Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Groenendijk MC; Founder and Chair Metabolic Power Foundation, a fund raising charity for more awareness and research into metabolic diseases, Haarlem, The Netherlands.
Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London Hospitals, London, UK.
Langendonk JG; Department of Internal Medicine, Netherlands Porphyria Center, Center for Lysosomal and Metabolic Diseases, Erasmus MC, Rotterdam, The Netherlands.
Langeveld M; Department of Internal Medicine, Netherlands Porphyria Center, Center for Lysosomal and Metabolic Diseases, Erasmus MC, Rotterdam, The Netherlands.
Linthorst G; Department of Internal Medicine, Division of Endocrinology and Metabolism, SPHINX, Amsterdam Lysosome Center, Academic Medical Center, Amsterdam, The Netherlands.
Morava E; Children's Hospital Leuven, University of Leuven, Leuven, Belgium.
Poll-The BT; Department of Neurology and Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Rahman S; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Rubio-Gozalbo ME; Departments of Paediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Hospital, Maastricht, The Netherlands.
Spiekerkoetter U; Department of Pediatrics, Adolescent Medicine and Neonatology, University Children's Hospital, Freiburg, Germany.
Treacy E; National Centre for Inherited Metabolic Disorders, Children's University and Mater University Hospitals, Dublin, Ireland.
Wanders R; Department of Genetic Metabolic Diseases, SPHINX, Amsterdam Lysosome Center, Academic Medical Center, Amsterdam, The Netherlands.
Zschocke J; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Hagendijk R; Amsterdam Institute for Social Science Research, University of Amsterdam, Amsterdam, The Netherlands.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 Jan 25; Vol. 11, pp. 7. Date of Electronic Publication: 2016 Jan 25.
Typ publikacji:
Journal Article
MeSH Terms:
Community Networks*
Rare Diseases*
Health Personnel/*standards
Patient Advocacy/*standards
Europe ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The quality of economic evaluations of ultra-orphan drugs in Europe - a systematic review.
Autorzy:
Schuller Y; Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, F5-166, P.O. Box 22660, , 1100 DD, Amsterdam, The Netherlands. .
Hollak CE; Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, F5-166, P.O. Box 22660, , 1100 DD, Amsterdam, The Netherlands. c.e.hollak@amc.nl.
Biegstraaten M; Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, F5-166, P.O. Box 22660, , 1100 DD, Amsterdam, The Netherlands. .
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Jul 30; Vol. 10, pp. 92. Date of Electronic Publication: 2015 Jul 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review; Systematic Review
MeSH Terms:
Drug Costs*
Orphan Drug Production/*economics
Europe
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Quality of life in patients with Fabry disease: a systematic review of the literature.
Autorzy:
Arends M; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. .
Hollak CE; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. c.e.hollak@amc.uva.nl.
Biegstraaten M; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. .
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Jun 16; Vol. 10, pp. 77. Date of Electronic Publication: 2015 Jun 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review; Systematic Review
MeSH Terms:
Fabry Disease/*pathology
Enzyme Replacement Therapy ; Fabry Disease/physiopathology ; Female ; Humans ; Male ; Quality of Life ; Surveys and Questionnaires
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
Autorzy:
Biegstraaten M; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. .
Arngrímsson R; Biomedical Center, University of Iceland and Landspitali University Hospital, Reykjavík, Iceland. .
Barbey F; Center of Molecular Diseases, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. .
Boks L; Fabry International Network (FIN), Amersham, UK. .
Cecchi F; Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy. .
Deegan PB; Department of Medicine, Addenbrooke's Hospital and University of Cambridge, Cambridge, UK. .
Feldt-Rasmussen U; Department of Medical Endocrinology, Copenhagen University Hospital, Copenhagen, Denmark. .
Geberhiwot T; Department of Endocrinology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK. .
Germain DP; Division of Medical Genetics, University of Versailles, Montigny, France. .
Hendriksz C; Department of Adult Inherited Metabolic Disorders, Manchester Academic Health Science Centre, Manchester, UK. .
Hughes DA; Department of Haematology, Lysosomal Storage Disorders Unit, Royal Free Hospital, University College London, London, UK. .
Kantola I; Division of Medicine, Turku University Hospital, Turku, Finland. .
Karabul N; Villa Metabolica, Centre for Paediatric and Adolescent Medicine, Mainz, Germany. .
Lavery C; Fabry International Network (FIN), Amersham, UK. .
Linthorst GE; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. .
Mehta A; Department of Haematology, Lysosomal Storage Disorders Unit, Royal Free Hospital, University College London, London, UK. .
van de Mheen E; Fabry Support and Information Group the Netherlands (FSIGN), Oosterwolde, the Netherlands. .
Oliveira JP; Department of Genetics, University of Porto & São João Hospital Centre, Porto, Portugal. .
Parini R; Rare Metabolic Diseases Unit, Paediatric Clinic, San Gerardo University Hospital, Monza, Italy. .
Ramaswami U; Lysosomal Disorders Unit, Institute of Immunity and Transplantation, Royal Free Hospital, London, UK. .
Rudnicki M; Department of Internal Medicine IV, Division Nephrology and Hypertension, Medical University Innsbruck, Innsbruck, Austria. .
Serra A; Epidemiology, Biostatistics and Prevention Institute, University of Zurich, Zurich, Switzerland. .
Sommer C; Department of Neurology, University of Würzburg, Würzburg, Germany. .
Sunder-Plassmann G; Department of Medicine III, Division Nephrology and Dialysis, Medical University of Vienna, Vienna, Austria. .
Svarstad E; Department of Medicine, Haukeland University Hospital and Department of Clinical Medicine, University of Bergen, Bergen, Norway. .
Sweeb A; Fabry Support and Information Group the Netherlands (FSIGN), Oosterwolde, the Netherlands. .
Terryn W; Department of Internal Medicine, Division of Nephrology, Ghent University Hospital, Ghent, Belgium. .
Tylki-Szymanska A; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. .
Tøndel C; Clinical Trial Unit/Department of Paediatrics, Haukeland University Hospital, Bergen, Norway. .
Vujkovac B; General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia. .
Weidemann F; Innere Klinik II, Katharinen Hospital Unna, Unna, Germany. .
Wijburg FA; Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands. .
Woolfson P; Department of Cardiology, Salford Royal Hospital NHS Foundation Trust, Manchester, UK. .
Hollak CE; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. c.e.hollak@amc.uva.nl.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Mar 27; Vol. 10, pp. 36. Date of Electronic Publication: 2015 Mar 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Enzyme Replacement Therapy*
Fabry Disease/*drug therapy
Isoenzymes/*therapeutic use
alpha-Galactosidase/*therapeutic use
Adolescent ; Disease Progression ; Fabry Disease/pathology ; Female ; Humans ; Isoenzymes/administration & dosage ; Male ; Practice Guidelines as Topic ; alpha-Galactosidase/administration & dosage
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Bone health in phenylketonuria: a systematic review and meta-analysis.
Autorzy:
Demirdas S; Department of Paediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. .
Coakley KE; Nutrition and Health Sciences and Molecules to Mankind Programs, Laney Graduate School and Department of Human Genetics, Emory University, Atlanta, GA, USA. .
Bisschop PH; Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. .
Hollak CE; Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. c.e.hollak@amc.uva.nl.
Bosch AM; Department of Paediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. .
Singh RH; Metabolic Nutrition and Genetics Program Department of Human Genetics, Emory University Atlanta GA United States, Atlanta, GA, USA. .
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Feb 15; Vol. 10, pp. 17. Date of Electronic Publication: 2015 Feb 15.
Typ publikacji:
Journal Article; Research Support, U.S. Gov't, P.H.S.; Review; Systematic Review
MeSH Terms:
Bone Density/*physiology
Phenylketonurias/*complications
Aging ; Fractures, Bone ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications.
Autorzy:
van Dussen L
Biegstraaten M
Dijkgraaf MG
Hollak CE
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Jul 24; Vol. 9, pp. 112. Date of Electronic Publication: 2014 Jul 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Enzyme Replacement Therapy*
Bone Diseases/*complications
Gaucher Disease/*therapy
Adult ; Disease Progression ; Gaucher Disease/complications ; Gaucher Disease/physiopathology ; Humans ; Netherlands ; Splenectomy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease.
Autorzy:
van Dussen L
Biegstraaten M
Hollak CE
Dijkgraaf MG; Clinical Research Unit, Academic Medical Center, PO Box 22660, 1100 DD Amsterdam, The Netherlands. .
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Apr 14; Vol. 9, pp. 51. Date of Electronic Publication: 2014 Apr 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Enzyme Replacement Therapy/*economics
Gaucher Disease/*drug therapy
Gaucher Disease/*economics
Female ; Humans ; Male ; Netherlands ; Prospective Studies ; Retrospective Studies ; Treatment Outcome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.
Autorzy:
Rombach SM; Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, DD, 1100, The Netherlands.
Smid BE
Bouwman MG
Linthorst GE
Dijkgraaf MG
Hollak CE
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Mar 25; Vol. 8, pp. 47. Date of Electronic Publication: 2013 Mar 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Enzyme Replacement Therapy*
Brain/*drug effects
Fabry Disease/*drug therapy
Heart/*drug effects
Kidney/*drug effects
Adolescent ; Adult ; Brain/pathology ; Brain/physiopathology ; Cohort Studies ; Fabry Disease/physiopathology ; Female ; Heart/physiopathology ; Humans ; Kidney/physiopathology ; Kidney Function Tests ; Male ; Organ Size
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Clinical pathways for inborn errors of metabolism: warranted and feasible.
Autorzy:
Demirdas S
van Kessel IN
Korndewal MJ
Hollak CE
Meutgeert H
Klaren A
van Rijn M
van Spronsen FJ
Bosch AM
Pokaż więcej
Corporate Authors:
Dutch working Group
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Feb 25; Vol. 8, pp. 37. Date of Electronic Publication: 2013 Feb 25.
Typ publikacji:
Letter
MeSH Terms:
Critical Pathways*
Metabolism, Inborn Errors/*therapy
Adult ; Child ; Humans ; Netherlands
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Cost-effectiveness of enzyme replacement therapy for Fabry disease.
Autorzy:
Rombach SM; Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, PO Box 22660, Amsterdam, DD 1100, The Netherlands.
Hollak CE
Linthorst GE
Dijkgraaf MG
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Feb 19; Vol. 8, pp. 29. Date of Electronic Publication: 2013 Feb 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cost-Benefit Analysis*
Enzyme Replacement Therapy*
Fabry Disease/*drug therapy
Cohort Studies ; Female ; Humans ; Male ; Markov Chains ; Netherlands ; Probability ; Quality-Adjusted Life Years
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storage.
Autorzy:
Bohte AE; Department of Radiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
van Dussen L
Akkerman EM
Nederveen AJ
Sinkus R
Jansen PL
Stoker J
Hollak CE
Pokaż więcej
Źródło:
PloS one [PLoS One] 2013; Vol. 8 (3), pp. e57507. Date of Electronic Publication: 2013 Mar 15.
Typ publikacji:
Clinical Trial; Journal Article
MeSH Terms:
Elasticity Imaging Techniques*
Gaucher Disease*/diagnostic imaging
Gaucher Disease*/metabolism
Gaucher Disease*/surgery
Liver Cirrhosis*/diagnostic imaging
Liver Cirrhosis*/metabolism
Liver Cirrhosis*/surgery
Magnetic Resonance Imaging*
Iron/*metabolism
Adult ; Aged ; Carcinoma, Hepatocellular/metabolism ; Carcinoma, Hepatocellular/pathology ; Carcinoma, Hepatocellular/surgery ; Female ; Humans ; Incidence ; Liver Neoplasms/metabolism ; Liver Neoplasms/pathology ; Liver Neoplasms/surgery ; Male ; Middle Aged ; Radiography ; Splenectomy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study.
Autorzy:
Cox TM; University of Cambridge, Addenbrooke's Hospital, Cambridge, UK. />Amato D
Hollak CE
Luzy C
Silkey M
Giorgino R
Steiner RD
Pokaż więcej
Corporate Authors:
Miglustat Maintenance Study Group
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2012 Dec 27; Vol. 7, pp. 102. Date of Electronic Publication: 2012 Dec 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Enzyme Therapy*
1-Deoxynojirimycin/*analogs & derivatives
Gaucher Disease/*drug therapy
Gaucher Disease/*therapy
1-Deoxynojirimycin/adverse effects ; 1-Deoxynojirimycin/therapeutic use ; Adult ; Enzyme Inhibitors/adverse effects ; Enzyme Inhibitors/therapeutic use ; Female ; Humans ; Male ; Middle Aged ; Prospective Studies ; Treatment Outcome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
Autorzy:
de Ru MH; Department of Paediatrics, Academic Medical Center, University Hospital of Amsterdam H7-270, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Teunissen QG
van der Lee JH
Beck M
Bodamer OA
Clarke LA
Hollak CE
Lin SP
Rojas MV
Pastores GM
Raiman JA
Scarpa M
Treacy EP
Tylki-Szymanska A
Wraith JE
Zeman J
Wijburg FA
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2012 Apr 23; Vol. 7, pp. 22. Date of Electronic Publication: 2012 Apr 23.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mucopolysaccharidosis I/*diagnosis
Female ; Genetic Association Studies ; Hematopoietic Stem Cell Transplantation ; Humans ; Iduronidase/genetics ; Iduronidase/metabolism ; Male ; Mucopolysaccharidosis I/classification ; Mucopolysaccharidosis I/metabolism ; Mucopolysaccharidosis I/therapy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.
Autorzy:
Rombach SM; Department of Endocrinology and Metabolism, Division of Internal Medicine, Academic Medical Center, Amsterdam, The Netherlands.
Aerts JM
Poorthuis BJ
Groener JE
Donker-Koopman W
Hendriks E
Mirzaian M
Kuiper S
Wijburg FA
Hollak CE
Linthorst GE
Pokaż więcej
Źródło:
PloS one [PLoS One] 2012; Vol. 7 (10), pp. e47805. Date of Electronic Publication: 2012 Oct 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Antibodies/*blood
Fabry Disease/*drug therapy
Fabry Disease/*immunology
Globosides/*urine
Glycolipids/*blood
Sphingolipids/*blood
Trihexosylceramides/*urine
alpha-Galactosidase/*therapeutic use
Adult ; Chromatography, High Pressure Liquid ; Chromatography, Liquid ; Enzyme Replacement Therapy ; Fabry Disease/blood ; Fabry Disease/urine ; Female ; Humans ; Male ; Middle Aged ; Neutralization Tests ; Spectrometry, Mass, Electrospray Ionization ; Tandem Mass Spectrometry ; Time ; Treatment Outcome ; alpha-Galactosidase/pharmacology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 28

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies