Gabor Linthorst : rechercher sur Z-Library

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1

Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

Bouwien E Smid, Saskia M Rombach, Johannes MFG Aerts, Symen Kuiper, Mina Mirzaian, Hermen S Overkleeft, Ben JHM Poorthuis, Carla EM Hollak, Johanna EM Groener, Gabor E Linthorst

Journal:

Orphanet Journal of Rare Diseases

Année:

2011

Langue:

english

Fichier:

PDF, 377 KB

english, 2011

2

Cost-effectiveness of enzyme replacement therapy for Fabry disease

Saskia M Rombach, Carla EM Hollak, Gabor E Linthorst…

Journal:

Orphanet Journal of Rare Diseases

Année:

2013

Langue:

english

Fichier:

PDF, 263 KB

english, 2013

3

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

Berendse, Kevin, Engelen, Marc, Linthorst, Gabor E, van Trotsenburg, AS, Poll–The, Bwee

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 201 KB

english, 2014

4

Poikilothermia in a 38-year-old Fabry patient

Marieke Biegstraaten, Ivo N. van Schaik, Carla E. M. Hollak, Wouter Wieling, Gabor E. Linthorst

Journal:

Clinical Autonomic Research

Année:

2011

Langue:

english

Fichier:

PDF, 176 KB

english, 2011

5

Letter concerning “Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha”, by Tanaka et al.

Gabor E. Linthorst, Johannes M. F. G. Aerts

Journal:

Journal of Inherited Metabolic Disease

Année:

2011

Langue:

english

Fichier:

PDF, 63 KB

english, 2011

6

The majority of bold statements expressed during grand rounds lack scientific merit

Gabor E Linthorst, Johannes M A Daniels, David J Van Westerloo

Journal:

Medical Education

Année:

2007

Langue:

english

Fichier:

PDF, 73 KB

english, 2007

7

Enzyme therapy for Fabry disease: Neutralizing antibodies toward agalsidase alpha and beta

LINTHORST, GABOR E, HOLLAK, CARLA E M, DONKER-KOOPMAN, WILMA E, STRIJLAND, ANNEKE, AERTS, JOHANNES M F G

Journal:

Kidney International

Année:

2004

Langue:

english

Fichier:

PDF, 129 KB

english, 2004

8

Remarkable variability in renal disease in a large Slovenian family with Fabry disease

Verovnik, Franc, Benko, Davorin, Vujkovac, Bojan, Linthorst, Gabor E

Journal:

European Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 83 KB

english, 2004

9

Current treatment trends in fabry disease

Gabor Linthorst

Journal:

Clinical Therapeutics

Année:

2009

Langue:

english

Fichier:

PDF, 289 KB

english, 2009

10

Screening for Fabry disease in “high-risk cohorts” and newborn

Gabor E. Linthorst

Journal:

Clinical Therapeutics

Année:

2010

Langue:

english

Fichier:

PDF, 52 KB

english, 2010

11

10 Thrombopoietin and its receptor: structure, function and role in the regulation of platelet production

Albert E.G. Kr von dem Borne, Claudia Folman, Gabor E. Linthorst, Leendert Porcelijn, Sonja van den Oudenrijn, Ellen van der Schoot, Masja de Haas

Journal:

Baillière's Clinical Haematology

Année:

1998

Langue:

english

Fichier:

PDF, 1.62 MB

english, 1998

12

11 Thrombopoietin: its role in platelet disorders and as a new drug in clinical medicine

Albert E.G. Kr von dem Borne, Claudia Folman, Gabor E. Linthorst, Leendert Porcelijn, Sonja van den Oudenrijn, Ellen van der Schoot, Masja de Haas

Journal:

Baillière's Clinical Haematology

Année:

1998

Langue:

english

Fichier:

PDF, 1.62 MB

english, 1998

13

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

Mariëlle J. van Breemen, Saskia M. Rombach, Nick Dekker, Ben J. Poorthuis, Gabor E. Linthorst, Aeilko H. Zwinderman, Frank Breunig, Christoph Wanner, Johannes M. Aerts, Carla E. Hollak

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2011

Langue:

english

Fichier:

PDF, 310 KB

english, 2011

14

Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers

Gabor E. Linthorst, Anouk C. Vedder, Johannes M.F.G. Aerts, Carla E.M. Hollak

Journal:

Clinica Chimica Acta

Année:

2005

Langue:

english

Fichier:

PDF, 91 KB

english, 2005

15

106. Natural history of Fabry disease: Progression of the nephropathy in a large series of affected males and heterozygous females

William Wilcox, Raphael Schiffmann, Maryam Banikazemi, Jan Bultas, Gabor Linthorst, Seymour Packman, Sven Sorensen, David Warnock, Robert Desnick

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 56 KB

english, 2008

16

Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT)

Gabor E. Linthorst, Dominique P. Germain, Carla E.M. Hollak, Derralynn Hughes, Arndt Rolfs, Christoph Wanner, Atul Mehta

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 448 KB

english, 2011

17

Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life

Machtelt G. Bouwman, Heleen Maurice-Stam, Gabor E. Linthorst, Carla E.M. Hollak, Frits A. Wijburg, Martha A. Grootenhuis

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 198 KB

english, 2011

18

Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry

William R. Wilcox, Gabor E. Linthorst, Dominique P. Germain, Ulla Feldt-Rasmussen, Stephen Waldek, Susan M. Richards, Dana Beitner-Johnson, Marta Cizmarik, J. Alexander Cole, Wytske Kingma, David G. W

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 393 KB

english, 2012

19

Cost-effectiveness of Enzyme Replacement Therapy for Fabry Disease

Saskia Rombach, Marcel Dijkgraaf, Gabor Linthorst, Carla Hollak

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 56 KB

english, 2012

20

Chloroquine-induced phospholipidosis of the kidney mimicking Fabry’s disease

Gabor E. Linthorst, Carla E.M. Hollak

Journal:

Human Pathology

Année:

2003

Langue:

english

Fichier:

PDF, 65 KB

english, 2003

21

Enzyme replacement in Anderson-Fabry disease

Bengt-Åke Bengtsson, Jan-Ove Johansson, Carla Hollak, Gabor Linthorst, Ulla FeldtRasmussen

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 52 KB

english, 2003

22

Global warming could affect outpatient attendance

Gabor E Linthorst, Jesse de Metz

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 53 KB

english, 2008

23

Green urine, but no infection

Mattheus DM Bolmers, Gabor E Linthorst, Maarten R Soeters, Yung C Nio, Johannes J van Lieshout

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 157 KB

english, 2009

24

Blood group does not correlate with disease severity in patients with Fabry disease (α-galactosidase A deficiency)

Gabor E Linthorst, Claudia C Folman, Johannes M.F.G Aerts, Carla E.M Hollak

Journal:

Blood Cells, Molecules, and Diseases

Année:

2003

Langue:

english

Fichier:

PDF, 51 KB

english, 2003

25

Recombinant Enzyme Therapy for Fabry Disease: Absence of Editing of Human α-Galactosidase A mRNA

Daniël Blom, Dave Speijer, Gabor E. Linthorst, Wilma G. Donker-Koopman, Anneke Strijland, M.F.G. Johannes Aerts

Journal:

The American Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 816 KB

english, 2003

26

Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease

William R. Wilcox, Maryam Banikazemi, Nathalie Guffon, Stephen Waldek, Philip Lee, Gabor E. Linthorst, Robert J. Desnick, Dominique P. Germain, for the International Fabry Disease Study Group

Journal:

The American Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 828 KB

english, 2004

27

Prevalence of symptoms in female Fabry disease patients: a case-control survey

Bouwman, Machtelt G., Rombach, Saskia M., Schenk, Erica, Sweeb, Annelies, Wijburg, Frits A., Hollak, Carla E. M., Linthorst, Gabor E.

Journal:

Journal of Inherited Metabolic Disease

Année:

2012

Langue:

english

Fichier:

PDF, 149 KB

english, 2012

28

Enzyme Activity for Determination of Presence of Fabry Disease in Women Results in 40% False-Negative Results

Gabor E. Linthorst, Ben J.H.M. Poorthuis, Carla E.M. Hollak

Journal:

Journal of the American College of Cardiology

Année:

2008

Langue:

english

Fichier:

PDF, 49 KB

english, 2008

29

Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease

Eng, Christine M., Guffon, Nathalie, Wilcox, William R., Germain, Dominique P., Lee, Philip, Waldek, Steve, Caplan, Louis, Linthorst, Gabor E., Desnick, Robert J.

Journal:

Boston Medical and Surgical Journal

Année:

2001

Langue:

english

Fichier:

PDF, 130 KB

english, 2001

30

Novel therapeutic targets for the treatment of Fabry disease

Hollak, Carla EM, Vedder, Anouk C, Linthorst, Gabor E, Aerts, Johannes MFG

Journal:

Expert Opinion on Therapeutic Targets

Année:

2007

Langue:

english

Fichier:

PDF, 279 KB

english, 2007

31

Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis

Rombach, Saskia M., Smid, Bouwien E., Linthorst, Gabor E., Dijkgraaf, Marcel G. W., Hollak, Carla E. M.

Journal:

Journal of Inherited Metabolic Disease

Année:

2014

Langue:

english

Fichier:

PDF, 1.61 MB

english, 2014

32

Fabry Disease: A Rare Cause of Neuropathic Pain

Biegstraaten, Marieke, Linthorst, Gabor E., Schaik, Ivo N., Hollak, Carla E. M.

Journal:

Current Pain and Headache Reports

Année:

2013

Langue:

english

Fichier:

PDF, 138 KB

english, 2013

33

Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening

Bouwman, Machtelt G., de Ru, Minke H., Linthorst, Gabor E., Hollak, Carla E.M., Wijburg, Frits A., van Zwieten, Myra C.B.

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 184 KB

english, 2013

34

Consensus recommendation on Fabry disease diagnosis in adult patients with left ventricular hypertrophy

Smid, Bouwien, van der Tol, Linda, Cecchi, Franco, Elliott, Perry, Hughes, Derralynn, Linthorst, Gabor, Timmermans, Janneke, Weidemann, Frank, West, Michael, Biegstraaten, Marieke, Deprez, Ronald Leka

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 47 KB

english, 2014

35

A case series study on diagnostic dilemmas in Fabry disease

Smid, Bouwien, Hollak, Carla, Poorthuis, Ben, Timmermans, Janneke, Linthorst, Gabor

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 70 KB

english, 2014

36

Globoside (P) blood group status as a predictor for Fabry disease severity

Smid, Bouwien, Ferraz, Maria, Scheij, Saskia, Kwakkel, Joan, Linthorst, Gabor, Boot, Rolf

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 223 KB

english, 2014

37

Clinical event status of patients with Fabry disease after long-term treatment with agalsidase beta and follow-up from The Fabry Registry

Germain, Dominique P., Linthorst, Gabor E., Wilcox, William R., Weidemann, Frank, Cizmarik, Marta, Warnock, David G.

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 67 KB

english, 2013

38

Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy

Suntjens, Eefje B., Smid, Bouwien E., Biegstraaten, Marieke, Dreschler, Wouter A., Hollak, Carla E. M., Linthorst, Gabor E.

Journal:

Journal of Inherited Metabolic Disease

Année:

2015

Langue:

english

Fichier:

PDF, 212 KB

english, 2015

39

A 10-year study documenting the long-term effectiveness of agalsidase-beta treatment in 52 adult patients with classic Fabry disease

Germain, Dominique P., Charrow, Joel, Desnick, Robert J., Guffon, Nathalie, Kempf, Judy, Lachmann, Robin H., Lemay, Roberta, Linthorst, Gabor E., Packman, Seymour, Scott, C. Ronald, Waldek, Stephen, W

Journal:

Molecular Genetics and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 230 KB

english, 2015

40

The role of antibodies in enzyme treatments and therapeutic strategies

Bigger, Brian W., Saif, Muhammad, Linthorst, Gabor E.

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 366 KB

english, 2015

41

Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort

Arends, Maarten, Linthorst, Gabor E., Hollak, Carla E., Biegstraaten, Marieke

Journal:

Molecular Genetics and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 347 KB

english, 2015

42

Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history

Kemp, Stephan, Huffnagel, Irene C., Linthorst, Gabor E., Wanders, Ronald J., Engelen, Marc

Journal:

Nature Reviews Endocrinology (formerly Nature Clinical Practice Endocrinology & Metabolism)

Année:

2016

Langue:

english

Fichier:

PDF, 2.41 MB

english, 2016

43

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Schiffmann, Raphael, Hughes, Derralynn A., Linthorst, Gabor E., Ortiz, Alberto, Svarstad, Einar, Warnock, David G., West, Michael L., Wanner, Christoph, Bichet, Daniel G., Christensen, Erik Ilsø, Corr

Journal:

Kidney International

Année:

2017

Langue:

english

Fichier:

PDF, 493 KB

english, 2017

44

Treatment of Fabry Disease: Outcome of a Comparative Trial with Agalsidase Alfa or Beta at a Dose of 0.2 mg/kg

Vedder, Anouk C., Linthorst, Gabor E., Houge, Gunnar, Groener, Johannna E.M., Ormel, Els E., Bouma, Berto J., Aerts, Johannes M.F.G., Hirth, Asle, Hollak, Carla E.M., Schiffmann, Raphael

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 150 KB

english, 2007

45

Platelets Release Thrombopoietin (Tpo) upon Activation: another Regulatory Loop in Thrombocytopoiesis?

Folman, Claudia, Linthorst, Gabor, van Mourik, Jan, van Willigen, Gijsbert, de Jonge, Evert, Levi, Marcel, de Haas, Masja, von dem Borne, Albert

Journal:

Thrombosis and Haemostasis

Année:

2000

Langue:

english

Fichier:

PDF, 864 KB

english, 2000

46

The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration

Huffnagel, Irene C, Laheji, Fiza K, Aziz-Bose, Razina, Tritos, Nicholas A, Marino, Rose, Linthorst, Gabor E, Kemp, Stephan, Engelen, Marc, Eichler, Florian

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2019

Langue:

english

Fichier:

PDF, 317 KB

english, 2019