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JIMD Reports
|
May 8, 2023
Paracetamol toxicity in classic homocystinuria: Effect of <i>N</i>-acetylcysteine on total homocysteine
Nour Elkhateeb, Sarah Hyde, Sarah L Hogg, et al.
Journal for Healthcare Quality : Official Publication of the National Association for Healthcare Quality
|
May 27, 2025
Feasibility of a Multidisciplinary Procedural Team Dedicated to Complex In-Patient Bedside Procedures
Daniel Ricaurte, Michael Russo, Patrick Deegan, et al.
Journal of Clinical Lipidology
|
January 3, 2022
A case of mesenteric panniculitis in a patient with Tangier disease
Adam T Townson, Yogeshkumar Malam, Katy Surman, et al.
Skeletal Radiology
|
August 1, 2020
Improving the quantitative classification of Erlenmeyer flask deformities
Gautam Adusumilli, Joshua D Kaggie, Simona D'Amore, et al.
Journal of Neurology
|
May 31, 2018
The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series
Lucy M Collins, Caroline H Williams-Gray, Elizabeth Morris, et al.
Molecular Genetics and Metabolism
|
June 5, 2012
Novel pathogenic mutations in the glucocerebrosidase locus
Raquel Duran, Alisdair McNeill, Atul Mehta, et al.
American Journal of Hematology
|
November 5, 2008
Life expectancy in Gaucher disease type 1
Neal J Weinreb, Patrick Deegan, Katherine A Kacena, et al.
Molecular Genetics and Metabolism Reports
|
January 13, 2018
Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey
Ida Vanessa D Schwartz, Özlem Göker-Alpan, Priya S Kishnani, et al.
JIMD Reports
|
February 23, 2013
Orthotopic liver transplantation in an adult with cholesterol ester storage disease
Graeme K Ambler, Matthew Hoare, Rebecca Brais, et al.
Orphanet Journal of Rare Diseases
|
January 29, 2025
Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey
Ari Zimran, Shoshana Revel-Vilk, Tama Dinur, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 46) with videos related to
Sort By:
Page
of 5
JIMD Reports
|
May 8, 2023
Paracetamol toxicity in classic homocystinuria: Effect of <i>N</i>-acetylcysteine on total homocysteine
Nour Elkhateeb, Sarah Hyde, Sarah L Hogg, et al.
Journal for Healthcare Quality : Official Publication of the National Association for Healthcare Quality
|
May 27, 2025
Feasibility of a Multidisciplinary Procedural Team Dedicated to Complex In-Patient Bedside Procedures
Daniel Ricaurte, Michael Russo, Patrick Deegan, et al.
Journal of Clinical Lipidology
|
January 3, 2022
A case of mesenteric panniculitis in a patient with Tangier disease
Adam T Townson, Yogeshkumar Malam, Katy Surman, et al.
Skeletal Radiology
|
August 1, 2020
Improving the quantitative classification of Erlenmeyer flask deformities
Gautam Adusumilli, Joshua D Kaggie, Simona D'Amore, et al.
Journal of Neurology
|
May 31, 2018
The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series
Lucy M Collins, Caroline H Williams-Gray, Elizabeth Morris, et al.
Molecular Genetics and Metabolism
|
June 5, 2012
Novel pathogenic mutations in the glucocerebrosidase locus
Raquel Duran, Alisdair McNeill, Atul Mehta, et al.
American Journal of Hematology
|
November 5, 2008
Life expectancy in Gaucher disease type 1
Neal J Weinreb, Patrick Deegan, Katherine A Kacena, et al.
Molecular Genetics and Metabolism Reports
|
January 13, 2018
Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey
Ida Vanessa D Schwartz, Özlem Göker-Alpan, Priya S Kishnani, et al.
JIMD Reports
|
February 23, 2013
Orthotopic liver transplantation in an adult with cholesterol ester storage disease
Graeme K Ambler, Matthew Hoare, Rebecca Brais, et al.
Orphanet Journal of Rare Diseases
|
January 29, 2025
Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey
Ari Zimran, Shoshana Revel-Vilk, Tama Dinur, et al.
Page
of 5