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Journal of Inherited Metabolic Disease
|
December 15, 2018
Editorial
Robin Lachmann, Carla Hollak
JIMD Reports
|
January 24, 2015
Parkinsonism in phenylketonuria: a consequence of dopamine depletion?
Marieke Velema, Erik Boot, Marc Engelen, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
|
June 14, 2003
Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention
Johannes M Aerts, Carla Hollak, Rolf Boot, et al.
Lancet (London, England)
|
February 1, 2003
Enzyme replacement in Anderson-Fabry disease
Bengt-Ake Bengtsson, Jan-Ove Johansson, Carla Hollak, et al.
European Journal of Haematology
|
February 14, 2004
Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease
Holger Jon Møller, Maaike de Fost, Hans Aerts, et al.
Orphanet Journal of Rare Diseases
|
March 5, 2026
A cost-based-plus pricing approach for repurposed tiratricol in the treatment of Allan-Herndon-Dudley syndrome
Evert Manders, Sarai Keestra, Wilbert Bannenberg, et al.
Heart (British Cardiac Society)
|
February 11, 2021
Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease
Mohamed El Sayed, Alexander Hirsch, Matthijs Boekholdt, et al.
The Cochrane Database of Systematic Reviews
|
March 28, 2015
Enzyme replacement and substrate reduction therapy for Gaucher disease
Elad Shemesh, Laura Deroma, Bruno Bembi, et al.
European Journal of Human Genetics : EJHG
|
March 1, 2007
Three-dimensional face shape in Fabry disease
Josanne Cox-Brinkman, Anouk Vedder, Carla Hollak, et al.
Journal of Inherited Metabolic Disease
|
September 15, 2012
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment
Neal J Weinreb, Jack Goldblatt, Jacobo Villalobos, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
Journal of Inherited Metabolic Disease
|
December 15, 2018
Editorial
Robin Lachmann, Carla Hollak
JIMD Reports
|
January 24, 2015
Parkinsonism in phenylketonuria: a consequence of dopamine depletion?
Marieke Velema, Erik Boot, Marc Engelen, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
|
June 14, 2003
Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention
Johannes M Aerts, Carla Hollak, Rolf Boot, et al.
Lancet (London, England)
|
February 1, 2003
Enzyme replacement in Anderson-Fabry disease
Bengt-Ake Bengtsson, Jan-Ove Johansson, Carla Hollak, et al.
European Journal of Haematology
|
February 14, 2004
Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease
Holger Jon Møller, Maaike de Fost, Hans Aerts, et al.
Orphanet Journal of Rare Diseases
|
March 5, 2026
A cost-based-plus pricing approach for repurposed tiratricol in the treatment of Allan-Herndon-Dudley syndrome
Evert Manders, Sarai Keestra, Wilbert Bannenberg, et al.
Heart (British Cardiac Society)
|
February 11, 2021
Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease
Mohamed El Sayed, Alexander Hirsch, Matthijs Boekholdt, et al.
The Cochrane Database of Systematic Reviews
|
March 28, 2015
Enzyme replacement and substrate reduction therapy for Gaucher disease
Elad Shemesh, Laura Deroma, Bruno Bembi, et al.
European Journal of Human Genetics : EJHG
|
March 1, 2007
Three-dimensional face shape in Fabry disease
Josanne Cox-Brinkman, Anouk Vedder, Carla Hollak, et al.
Journal of Inherited Metabolic Disease
|
September 15, 2012
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment
Neal J Weinreb, Jack Goldblatt, Jacobo Villalobos, et al.
Page
of 2