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Molecular Genetics and Metabolism Reports
|
February 22, 2021
The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease
Ashlee R Stiles, Erin Huggins, Luca Fierro, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
May 24, 2023
Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry
Manisha Balwani, William Balistreri, Lorenzo D'Antiga, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
August 9, 2025
Sebelipase Alfa Improves Aminotransferase Levels in Lysosomal Acid Lipase Deficiency: Data From an International Registry
Lorenzo D'Antiga, Jennifer Evans, Emilio Ros, et al.
Molecular Genetics and Metabolism
|
April 16, 2018
Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients
Donna Lee Bernstein, Steven Lobritto, Alina Iuga, et al.
American Journal of Hematology
|
May 22, 2020
Real-world effectiveness of eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry
Pramod K Mistry, Manisha Balwani, Joel Charrow, et al.
Orphanet Journal of Rare Diseases
|
October 3, 2024
Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study
Eliane Sardh, Manisha Balwani, David C Rees, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 11, 2021
Cytokines and Gaucher Biomarkers in Glucocerebrosidase Carriers with and Without Parkinson Disease
Jasmin Galper, Manisha Balwani, Stanley Fahn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 14, 2016
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening
Amy C Yang, Louise Bier, Jessica R Overbey, et al.
Chest
|
July 9, 2022
A 51-Year-Old Woman With Interstitial Lung Disease and Subsequent COVID-19 Presenting With Worsening Dyspnea
Nicole Ng, Jigna Zatakia, Mary B Beasley, et al.
JIMD Reports
|
April 21, 2025
Self-Reported Liver Disease and the Burden of Erythropoietic Protoporphyria
Hetanshi Naik, Kristen Wheeden, Hilary H Colwell, et al.
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of 10
Search research articles
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Showing results (31-40 of 94) with videos related to
Sort By:
Page
of 10
Molecular Genetics and Metabolism Reports
|
February 22, 2021
The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease
Ashlee R Stiles, Erin Huggins, Luca Fierro, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
May 24, 2023
Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry
Manisha Balwani, William Balistreri, Lorenzo D'Antiga, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
August 9, 2025
Sebelipase Alfa Improves Aminotransferase Levels in Lysosomal Acid Lipase Deficiency: Data From an International Registry
Lorenzo D'Antiga, Jennifer Evans, Emilio Ros, et al.
Molecular Genetics and Metabolism
|
April 16, 2018
Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients
Donna Lee Bernstein, Steven Lobritto, Alina Iuga, et al.
American Journal of Hematology
|
May 22, 2020
Real-world effectiveness of eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry
Pramod K Mistry, Manisha Balwani, Joel Charrow, et al.
Orphanet Journal of Rare Diseases
|
October 3, 2024
Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study
Eliane Sardh, Manisha Balwani, David C Rees, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 11, 2021
Cytokines and Gaucher Biomarkers in Glucocerebrosidase Carriers with and Without Parkinson Disease
Jasmin Galper, Manisha Balwani, Stanley Fahn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 14, 2016
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening
Amy C Yang, Louise Bier, Jessica R Overbey, et al.
Chest
|
July 9, 2022
A 51-Year-Old Woman With Interstitial Lung Disease and Subsequent COVID-19 Presenting With Worsening Dyspnea
Nicole Ng, Jigna Zatakia, Mary B Beasley, et al.
JIMD Reports
|
April 21, 2025
Self-Reported Liver Disease and the Burden of Erythropoietic Protoporphyria
Hetanshi Naik, Kristen Wheeden, Hilary H Colwell, et al.
Page
of 10