LIVIVO - Das Suchportal für Lebenswissenschaften

switch to English language
Zurück zur letzten Suche Suchhistorie
Erweiterte Suche

Ihre letzten Suchen

  1. AU="Deegan, Patrick"
  2. AU="Jo, Doo Sin"
  3. AU="Adgey, A J"
  4. AU=Liu Hejun
  5. AU="Ferreira, Filipa C"
  6. AU="Losurdo, G"
  7. AU="Dorjsuren, Bilguujin"
  8. AU="Kilgore, Henry R"
  9. AU="Magee, Toni"
  10. AU="Jiang Gui"

Suchergebnis

Treffer 1 - 10 von insgesamt 60

Suchoptionen

  1. Artikel ; Online: Enzyme replacement therapy for Fabry's disease.

    Deegan, Patrick

    Lancet (London, England)

    2010  Band 375, Heft 9725, Seite(n) 1522–3; author reply 1523–4

    Mesh-Begriff(e) Enzyme Replacement Therapy ; Fabry Disease/drug therapy ; Fabry Disease/mortality ; Humans ; Isoenzymes/therapeutic use ; Registries ; Research Design ; alpha-Galactosidase/therapeutic use
    Chemische Substanzen Isoenzymes ; agalsidase alfa (2HLC17MX9G) ; alpha-Galactosidase (EC 3.2.1.22)
    Sprache Englisch
    Erscheinungsdatum 2010-05-01
    Erscheinungsland England
    Dokumenttyp Letter ; Comment
    ZDB-ID 3306-6
    ISSN 1474-547X ; 0023-7507 ; 0140-6736
    ISSN (online) 1474-547X
    ISSN 0023-7507 ; 0140-6736
    DOI 10.1016/S0140-6736(10)60652-6
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Volltext online

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Ua VI Zs.5: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 94: Hefte anzeigen

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  2. Artikel: Paracetamol toxicity in classic homocystinuria: Effect of

    Elkhateeb, Nour / Hyde, Sarah / Hogg, Sarah L / Allsop, Daniel / Shankar, Arun / Deegan, Patrick / Tan, Chong Y

    JIMD reports

    2023  Band 64, Heft 3, Seite(n) 238–245

    Abstract: Classical homocystinuria (HCU) is caused by cystathionine β-synthase deficiency leading to impaired homocysteine transsulfuration and accumulation of homocysteine and methionine. Patients present with a wide spectrum of manifestations including ocular, ... ...

    Abstract Classical homocystinuria (HCU) is caused by cystathionine β-synthase deficiency leading to impaired homocysteine transsulfuration and accumulation of homocysteine and methionine. Patients present with a wide spectrum of manifestations including ocular, skeletal, neuropsychiatric, and vascular manifestations. We report a 48-year-old female with pyridoxine-unresponsive HCU treated with betaine, cyanocobalamin, and folate. Her diet was non-restricted due to intolerance of low-methionine diet. She was admitted to hospital following a fall, with multiple fractures and subsequently developed acute liver failure with encephalopathy. Shock, sepsis, and liver ischaemia/thrombosis were excluded. In the context of glutathione depletion expected in HCU, hepatic dysfunction was presumed to be due to iatrogenic paracetamol toxicity, despite paracetamol intake at conventional therapeutic dose, with role of hypermethioninemia as a contributing factor being uncertain. Betaine was discontinued on hospital admission.
    Sprache Englisch
    Erscheinungsdatum 2023-03-03
    Erscheinungsland United States
    Dokumenttyp Case Reports
    ZDB-ID 2672872-2
    ISSN 2192-8312 ; 2192-8304
    ISSN (online) 2192-8312
    ISSN 2192-8304
    DOI 10.1002/jmd2.12363
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  3. Artikel ; Online: Fabry disease, enzyme replacement therapy and the significance of antibody responses.

    Deegan, Patrick B

    Journal of inherited metabolic disease

    2011  Band 35, Heft 2, Seite(n) 227–243

    Abstract: Fabry disease is an X-linked disorder caused by a deficiency of α-galactosidase A. This leads to a progressive accumulation of globotriaosylceramide in tissues throughout the body. Cardiac, renal and neurological manifestations are common and life ... ...

    Abstract Fabry disease is an X-linked disorder caused by a deficiency of α-galactosidase A. This leads to a progressive accumulation of globotriaosylceramide in tissues throughout the body. Cardiac, renal and neurological manifestations are common and life expectancy is significantly reduced relative to the general population. Management of Fabry disease involves the administration of intravenous enzyme replacement therapy (ERT). Two forms - agalsidase alfa and agalsidase beta - have been licensed in certain jurisdictions and are generally well tolerated; however, some patients develop antibodies to the infused enzyme, which may impair the efficacy and safety of treatment. Agalsidase alfa and agalsidase beta are produced in different systems; this leads to certain differences in post-translational modification that may affect immunogenicity. Immunoglobulin (Ig) G antibodies have frequently been reported in patients with Fabry disease receiving ERT; IgG responses are reported in a greater proportion of patients receiving agalsidase beta than in patients receiving agalsidase alfa. IgE antibodies are less common than IgG antibodies, and have not been observed in patients receiving agalsidase alfa. However, these data are difficult to interpret due to methodological differences in the assessment of seropositivity, and in the doses of enzyme used. The clinical impact of the development of IgG antibodies to ERT in patients with Fabry disease remains unclear, due to lack of data and to the marked heterogeneity of patients both in terms of disease manifestations and response to therapy. Further studies that examine the development of antibodies in patients with Fabry disease and the potential impact of such antibodies on the outcome of ERT are necessary.
    Mesh-Begriff(e) Animals ; Antibody Formation/drug effects ; Antibody Formation/immunology ; Enzyme Replacement Therapy/methods ; Fabry Disease/drug therapy ; Fabry Disease/immunology ; Humans ; Isoenzymes/immunology ; Isoenzymes/therapeutic use ; Recombinant Proteins ; alpha-Galactosidase/immunology ; alpha-Galactosidase/therapeutic use
    Chemische Substanzen Isoenzymes ; Recombinant Proteins ; agalsidase alfa (2HLC17MX9G) ; alpha-Galactosidase (EC 3.2.1.22) ; agalsidase beta (RZD65TSM9U)
    Sprache Englisch
    Erscheinungsdatum 2011-10-25
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1007/s10545-011-9400-y
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Volltext online

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 1508: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  4. Artikel ; Online: The International Collaborative Gaucher Group GRAF (Gaucher Risk Assessment for Fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients.

    Deegan, Patrick / Khan, Aneal / Camelo, José Simon / Batista, Julie L / Weinreb, Neal

    Orphanet journal of rare diseases

    2021  Band 16, Heft 1, Seite(n) 92

    Abstract: Background: Fractures in Gaucher disease type 1 (GD1) patients cause significant morbidity. Fracture risk may be decreased by enzyme replacement therapy (ERT) but not eliminated. When considering initiation of treatment, it is useful to know to what ... ...

    Abstract Background: Fractures in Gaucher disease type 1 (GD1) patients cause significant morbidity. Fracture risk may be decreased by enzyme replacement therapy (ERT) but not eliminated. When considering initiation of treatment, it is useful to know to what extent fixed patient-specific factors determine risk for future fractures beyond standard risk factors that change with time and treatment, such as decreased bone mineral density. We developed a tool called the GRAF score (Gaucher Risk Assessment for Fracture) that applies 5 widely available characteristics (sex, age at treatment initiation [ATI], time interval between diagnosis and treatment initiation, splenectomy status, history of pre-treatment bone crisis) and provides a practical method to assess future fracture risk when imiglucerase ERT is initiated.
    Methods: Inclusion criteria: GD1 patients in the International Collaborative Gaucher Group Gaucher Registry as of September 2019 initially treated with alglucerase/imiglucerase; known splenectomy status; at least one skeletal assessment on treatment (3216 of 6422 patients). Data were analyzed by ATI group (< 18, ≥ 18 to < 50, or ≥ 50 years of age) using Cox proportional hazards regression with all 5 risk factors included in the multivariable model. A composite risk score was calculated by summing the contribution of each parameter weighted by the strength of its association (regression coefficient) with fracture risk.
    Results: Patients were followed from the date of treatment initiation (or age 18 years for patients if treatment started earlier) to the date of first adult fracture (n = 288 first fracture endpoints), death, or end of follow-up. The GRAF score for each ATI group was associated with a 2.7-fold increased risk of adult fracture for each one-point increase (p < 0.02 for < 18 ATI, p < 0.0001 for ≥ 18 to < 50 ATI and ≥ 50 ATI).
    Conclusions: The GRAF score is a tool to be used with bone density and other modifiable, non-GD-specific risk factors (e.g. smoking, alcohol intake, frailty) to inform physicians and previously untreated GD1 patients about risk for a future fracture after starting imiglucerase regardless of whether there is an eventual switch to an alternative ERT or to substrate reduction therapy. GRAF can also help predict the extent that fracture risk increases if initiation of treatment is further delayed.
    Mesh-Begriff(e) Adolescent ; Adult ; Enzyme Replacement Therapy ; Gaucher Disease/complications ; Gaucher Disease/drug therapy ; Glucosylceramidase/therapeutic use ; Humans ; Risk Assessment ; Risk Factors
    Chemische Substanzen Glucosylceramidase (EC 3.2.1.45) ; imiglucerase (Q6U6J48BWY)
    Sprache Englisch
    Erscheinungsdatum 2021-02-18
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1750-1172
    ISSN (online) 1750-1172
    DOI 10.1186/s13023-020-01656-6
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

    Fernleihe an ZB MED

    Sie können sich den gewünschten Titel als lokale Nutzerin oder lokaler Nutzer von ZB MED direkt an den Standort Köln schicken lassen.

  5. Artikel: Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on "Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS).

    Hughes, Derralynn A / Deegan, Patrick / Giraldo, Pilar / Göker-Alpan, Özlem / Lau, Heather / Lukina, Elena / Revel-Vilk, Shoshana / Scarpa, Maurizio / Botha, Jaco / Gadir, Noga / Zimran, Ari

    Journal of clinical medicine

    2023  Band 12, Heft 12

    Abstract: Thank you for allowing us the opportunity to respond to the commentary from Mistry and colleagues (Comment: The two substrate reduction therapies for type 1 Gaucher disease are not equivalent) [ ... ]. ...

    Abstract Thank you for allowing us the opportunity to respond to the commentary from Mistry and colleagues (Comment: The two substrate reduction therapies for type 1 Gaucher disease are not equivalent) [...].
    Sprache Englisch
    Erscheinungsdatum 2023-06-13
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm12124017
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  6. Artikel ; Online: Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel.

    Stepien, Karolina M / Broomfield, Alexander / Cole, Duncan / Deegan, Patrick B / Forshaw-Hulme, Stuart / Hughes, Derralynn / Jovanovic, Ana / Morris, Liz / Muir, Alison / Ramaswami, Uma

    Orphanet journal of rare diseases

    2023  Band 18, Heft 1, Seite(n) 203

    Abstract: Background: Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people with Fabry disease are episodes ... ...

    Abstract Background: Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people with Fabry disease are episodes of neuropathic pain reported in up to 80% of classical hemizygous male patients and up to 65% of heterozygous female patients. No clear consensus exists within UK clinical practice for the assessment and management of pain in Fabry disease based on agreed clinical practice and clinical experience. Here we describe a modified Delphi initiative to establish expert consensus on management of pain in Fabry disease in the UK clinical setting.
    Methods: Delphi panel members were identified based on their demonstrated expertise in managing adult or paediatric patients with Fabry disease in the UK and recruited by an independent third-party administrator. Ten expert panellists agreed to participate in two survey rounds, during which they remained anonymous to each other. Circulation of the questionnaires, and collection and processing of the panel's responses were conducted between September 2021 and December 2021. All questions required an answer.
    Results: The Delphi panel reached a consensus on 21 out of 41 aspects of pain assessment and management of pain in Fabry disease. These encompassed steps in the care pathway from the goals of therapy through to holistic support, including the use of gabapentin and carbamazepine as first-line analgesic medications for the treatment of neuropathic pain in Fabry disease, as well as the proactive management of symptoms of anxiety and/or depression associated with Fabry pain.
    Conclusions: The consensus panel outcomes reported here have highlighted strengths in current UK clinical practice, along with unmet needs for further research and agreement. This consensus is intended to prompt the next steps towards developing clinical guidelines.
    Mesh-Begriff(e) Adult ; Humans ; Female ; Male ; Child ; Fabry Disease/diagnosis ; Fabry Disease/drug therapy ; Consensus ; Neuralgia/diagnosis ; Neuralgia/drug therapy ; Neuralgia/etiology ; Kidney ; United Kingdom
    Sprache Englisch
    Erscheinungsdatum 2023-07-21
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2225857-7
    ISSN 1750-1172 ; 1750-1172
    ISSN (online) 1750-1172
    ISSN 1750-1172
    DOI 10.1186/s13023-023-02796-1
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  7. Artikel: Atypical presentation of late-onset Sandhoff disease: a case report.

    Salamon, András / Szpisjak, László / Zádori, Dénes / Lénárt, István / Maróti, Zoltán / Kalmár, Tibor / Brierley, Charlotte M H / Deegan, Patrick B / Klivényi, Péter

    Ideggyogyaszati szemle

    2021  Band 74, Heft 11-12, Seite(n) 425–429

    Abstract: Background and purpose: Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the ...

    Titelübersetzung Késői kezdetű Sandhoff-betegség atípusos jelentkezése: esetismertetés.
    Abstract Background and purpose: Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme. The late-onset form is characterized by diverse symptomatology, comprising motor neuron disease, ataxia, tremor, dystonia, psychiatric symptoms and neuropathy.
    Methods: A 36-year-old female patient has been presenting progressive, symmetrical lower limb weakness for 9 years. Detailed neurological examination revealed mild symmetrical weakness in the hip flexors without the involvement of other muscle groups. The patellar reflex was decreased on both sides. Laboratory tests showed no relevant alteration and routine electroencephalography and brain MRI were normal. Nerve conduction studies and electromyography revealed alterations corresponding to sensory neuropathy. Muscle biopsy demonstrated signs of mild neurogenic lesion. Her younger brother (32-year-old) was observed with similar symptoms.
    Results: Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state). Segregation analysis and hexosaminidase enzyme assay of the family further confirmed the diagnosis of late-onset Sandhoff disease.
    Conclusion: The purpose of this case report is to draw attention to the significance of late-onset Sandhoff disease amongst disorders presenting with proximal predominant symmetric lower limb muscle weakness in adulthood.
    Mesh-Begriff(e) Adult ; Female ; Hexosaminidase A/genetics ; Hexosaminidase B/genetics ; Humans ; Male ; Motor Neuron Disease ; Mutation ; Sandhoff Disease/diagnosis ; Sandhoff Disease/genetics
    Chemische Substanzen Hexosaminidase A (EC 3.2.1.52) ; Hexosaminidase B (EC 3.2.1.52)
    Sprache Englisch
    Erscheinungsdatum 2021-12-01
    Erscheinungsland Hungary
    Dokumenttyp Case Reports
    ZDB-ID 2240317-6
    ISSN 0019-1442
    ISSN 0019-1442
    DOI 10.18071/isz.74.0425
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 6335: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  8. Artikel: A case of mesenteric panniculitis in a patient with Tangier disease.

    Townson, Adam T / Malam, Yogeshkumar / Surman, Katy / Chhabra, Shaan / Tan, Chong Yew / Deegan, Patrick / Mathews, John

    Journal of clinical lipidology

    2021  Band 16, Heft 2, Seite(n) 164–166

    Abstract: Mesenteric panniculitis is a rare disease caused by idiopathic inflammation of adipose tissue, most commonly affecting the mesentery of the small bowel. We present a unique case of mesenteric panniculitis in a patient with Tangier disease; a rare genetic ...

    Abstract Mesenteric panniculitis is a rare disease caused by idiopathic inflammation of adipose tissue, most commonly affecting the mesentery of the small bowel. We present a unique case of mesenteric panniculitis in a patient with Tangier disease; a rare genetic disorder caused by mutations in the ABCA1 gene, leading to deficiency of high-density lipoprotein in the blood and accumulation of cholesterol esters within various tissues. The accumulation of cholesterol esters in body tissues in patients with Tangier disease may contribute to the pathogenesis of mesenteric panniculitis; although there is limited evidence to support this hypothesis due to the rarity of concurrent disease.
    Mesh-Begriff(e) Abdomen ; Cholesterol Esters ; Humans ; Lipoproteins, HDL ; Panniculitis, Peritoneal/complications ; Panniculitis, Peritoneal/diagnosis ; Tangier Disease/complications ; Tangier Disease/diagnosis ; Tangier Disease/genetics
    Chemische Substanzen Cholesterol Esters ; Lipoproteins, HDL
    Sprache Englisch
    Erscheinungsdatum 2021-12-22
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 2365061-8
    ISSN 1876-4789 ; 1933-2874
    ISSN (online) 1876-4789
    ISSN 1933-2874
    DOI 10.1016/j.jacl.2021.12.002
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Volltext online

    Zusatzmaterialien

    Kategorien

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  9. Artikel ; Online: Imiglucerase in the treatment of Gaucher disease: a history and perspective.

    Deegan, Patrick B / Cox, Timothy M

    Drug design, development and therapy

    2012  Band 6, Seite(n) 81–106

    Abstract: The scientific and therapeutic development of imiglucerase (Cerezyme(®)) by the Genzyme Corporation is a paradigm case for a critical examination of current trends in biotechnology. In this article the authors argue that contemporary interest in ... ...

    Abstract The scientific and therapeutic development of imiglucerase (Cerezyme(®)) by the Genzyme Corporation is a paradigm case for a critical examination of current trends in biotechnology. In this article the authors argue that contemporary interest in treatments for rare diseases by major pharmaceutical companies stems in large part from an exception among rarities: the astonishing commercial success of Cerezyme. The fortunes of the Genzyme Corporation, latterly acquired by global giant Sanofi SA, were founded on the evolution of a blockbuster therapy for a single but, as it turns out, propitious ultra-orphan disorder: Gaucher disease.
    Mesh-Begriff(e) Clinical Trials as Topic ; Drug Costs ; Drug Discovery ; Drug Industry ; Gaucher Disease/drug therapy ; Glucosylceramidase/adverse effects ; Glucosylceramidase/economics ; Glucosylceramidase/supply & distribution ; Glucosylceramidase/therapeutic use ; Health Services Accessibility ; Humans ; Registries
    Chemische Substanzen Glucosylceramidase (EC 3.2.1.45) ; imiglucerase (Q6U6J48BWY)
    Sprache Englisch
    Erscheinungsdatum 2012-04-18
    Erscheinungsland New Zealand
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2451346-5
    ISSN 1177-8881 ; 1177-8881
    ISSN (online) 1177-8881
    ISSN 1177-8881
    DOI 10.2147/DDDT.S14395
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  10. Artikel: Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS).

    Hughes, Derralynn A / Deegan, Patrick / Giraldo, Pilar / Göker-Alpan, Özlem / Lau, Heather / Lukina, Elena / Revel-Vilk, Shoshana / Scarpa, Maurizio / Botha, Jaco / Gadir, Noga / Zimran, Ari

    Journal of clinical medicine

    2022  Band 11, Heft 17

    Abstract: Switching between enzyme replacement therapies (ERT) and substrate reduction therapies (SRT) in patients with type 1 Gaucher disease (GD1) is not uncommon; however, the reasons for switchng treatments have not been explored in detail. Data from the ... ...

    Abstract Switching between enzyme replacement therapies (ERT) and substrate reduction therapies (SRT) in patients with type 1 Gaucher disease (GD1) is not uncommon; however, the reasons for switchng treatments have not been explored in detail. Data from the Gaucher Outcome Survey (GOS), an international registry for patients with confirmed GD, were used to evaluate the reasons for, and consequences of, switching between these treatment types. Of the 1843 patients enrolled in GOS on 25 February 2020, 245 had undergone a treatment switch: 222 from initial ERT to SRT (of whom 88 later switched back to ERT) and 23 from initial SRT to ERT. The most common reasons for ERT-SRT switching were duration of infusion (25.4%), drug shortage (22.0%), and adverse events (AEs; 11.9%), and for SRT-ERT switching, AEs (63.6%), lack of beneficial effect (16.4%), and participation in a clinical trial (9.1%). Bodyweight and hematologic parameters largely remained stable before and after switching between ERT and SRT, although with substantial variation between patients. These findings contribute to understanding why treatment switching occurs in patients with GD, and may help physicians recognize the real-world impact of treatment switching between ERT and SRT for patients with GD.
    Sprache Englisch
    Erscheinungsdatum 2022-08-31
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm11175158
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

Zum Seitenanfang