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Robin H Lachmann

Showing results (31-40 of 53) with videos related to

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Neurology|December 5, 2018
Author response: Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling studyDavid John Werring, Aine Merwick, Indran Davagnanam, et al.
Neurology|April 18, 2018
Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling studyPo Phyu, Aine Merwick, Indran Davagnanam, et al.
Neurobiology of Disease|July 21, 2004
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type CRobin H Lachmann, Danielle te Vruchte, Emyr Lloyd-Evans, et al.
Journal of Inherited Metabolic Disease|September 16, 2011
A series of pregnancies in women with inherited metabolic diseaseJanneke G Langendonk, Jonathan C P Roos, Lindsay Angus, et al.
Journal of Medical Genetics|March 22, 2015
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry diseaseDominique P Germain, Joel Charrow, Robert J Desnick, et al.
JACC. Cardiovascular Imaging|May 21, 2018
Proposed Stages of Myocardial Phenotype Development in Fabry DiseaseSabrina Nordin, Rebecca Kozor, Katia Medina-Menacho, et al.
Brain : a Journal of Neurology|March 17, 2009
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's diseaseJuliane Neumann, Jose Bras, Emma Deas, et al.
Lancet (London, England)|March 16, 2010
Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trialFrederick J Raal, Raul D Santos, Dirk J Blom, et al.
JIMD Reports|September 17, 2014
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-upL van der Tol, David Cassiman, Gunnar Houge, et al.
Orphanet Journal of Rare Diseases|October 15, 2021
In-depth phenotyping for clinical stratification of Gaucher diseaseSimona D'Amore, Kathleen Page, Aimée Donald, et al.
Pageof 6

Showing results (31-40 of 53) with videos related to

Sort By:
Pageof 6
Neurology|December 5, 2018
Author response: Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling studyDavid John Werring, Aine Merwick, Indran Davagnanam, et al.
Neurology|April 18, 2018
Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling studyPo Phyu, Aine Merwick, Indran Davagnanam, et al.
Neurobiology of Disease|July 21, 2004
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type CRobin H Lachmann, Danielle te Vruchte, Emyr Lloyd-Evans, et al.
Journal of Inherited Metabolic Disease|September 16, 2011
A series of pregnancies in women with inherited metabolic diseaseJanneke G Langendonk, Jonathan C P Roos, Lindsay Angus, et al.
Journal of Medical Genetics|March 22, 2015
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry diseaseDominique P Germain, Joel Charrow, Robert J Desnick, et al.
JACC. Cardiovascular Imaging|May 21, 2018
Proposed Stages of Myocardial Phenotype Development in Fabry DiseaseSabrina Nordin, Rebecca Kozor, Katia Medina-Menacho, et al.
Brain : a Journal of Neurology|March 17, 2009
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's diseaseJuliane Neumann, Jose Bras, Emma Deas, et al.
Lancet (London, England)|March 16, 2010
Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trialFrederick J Raal, Raul D Santos, Dirk J Blom, et al.
JIMD Reports|September 17, 2014
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-upL van der Tol, David Cassiman, Gunnar Houge, et al.
Orphanet Journal of Rare Diseases|October 15, 2021
In-depth phenotyping for clinical stratification of Gaucher diseaseSimona D'Amore, Kathleen Page, Aimée Donald, et al.
Pageof 6