Search research articles
Contact Us
Filters
Showing results (41-50 of 94) with videos related to
Page
of 10
Sort By:
Liver International : Official Journal of the International Association for the Study of the Liver
|
July 14, 2020
Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study
Vĕra Malinová, Manisha Balwani, Reena Sharma, et al.
The Journal of Dermatology
|
August 9, 2025
The Burden of Erythropoietic Protoporphyria (EPP): Results From the EPP Life Impact and Genetic Health Trajectory (LIGHT) Study
Hetanshi Naik, Manisha Balwani, Hilary H Colwell, et al.
Journal of Clinical Medicine
|
May 13, 2023
The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). <i>J. Clin. Med.</i> 2022, <i>11</i>, 5158
Pramod K Mistry, Priya S Kishnani, Manisha Balwani, et al.
Orphanet Journal of Rare Diseases
|
August 26, 2022
Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study
Bruce Wang, Paolo Ventura, Kei-Ichiro Takase, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria
Brenden Chen, Constanza Solis-Villa, Angelika L Erwin, et al.
Molecular Genetics and Metabolism
|
November 8, 2025
Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher Disease
Chloe Cheung, Luca Fierro, Catherine McDonough, et al.
Archives of Dermatology
|
May 19, 2010
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation
Julie L Cantatore-Francis, Jessica Cohen-Pfeffer, Manisha Balwani, et al.
Molecular Genetics and Metabolism
|
October 23, 2016
Acute Intermittent Porphyria in children: A case report and review of the literature
Manisha Balwani, Preeti Singh, Anju Seth, et al.
Molecular Genetics and Metabolism
|
September 22, 2015
Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States
Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, et al.
Molecular Genetics and Metabolism Reports
|
November 22, 2017
Parkinson's disease prevalence in Fabry disease: A survey study
Adina H Wise, Amy Yang, Hetanshi Naik, et al.
Page
of 10
Search research articles
Search
Showing results (41-50 of 94) with videos related to
Sort By:
Page
of 10
Liver International : Official Journal of the International Association for the Study of the Liver
|
July 14, 2020
Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study
Vĕra Malinová, Manisha Balwani, Reena Sharma, et al.
The Journal of Dermatology
|
August 9, 2025
The Burden of Erythropoietic Protoporphyria (EPP): Results From the EPP Life Impact and Genetic Health Trajectory (LIGHT) Study
Hetanshi Naik, Manisha Balwani, Hilary H Colwell, et al.
Journal of Clinical Medicine
|
May 13, 2023
The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). <i>J. Clin. Med.</i> 2022, <i>11</i>, 5158
Pramod K Mistry, Priya S Kishnani, Manisha Balwani, et al.
Orphanet Journal of Rare Diseases
|
August 26, 2022
Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study
Bruce Wang, Paolo Ventura, Kei-Ichiro Takase, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria
Brenden Chen, Constanza Solis-Villa, Angelika L Erwin, et al.
Molecular Genetics and Metabolism
|
November 8, 2025
Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher Disease
Chloe Cheung, Luca Fierro, Catherine McDonough, et al.
Archives of Dermatology
|
May 19, 2010
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation
Julie L Cantatore-Francis, Jessica Cohen-Pfeffer, Manisha Balwani, et al.
Molecular Genetics and Metabolism
|
October 23, 2016
Acute Intermittent Porphyria in children: A case report and review of the literature
Manisha Balwani, Preeti Singh, Anju Seth, et al.
Molecular Genetics and Metabolism
|
September 22, 2015
Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States
Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, et al.
Molecular Genetics and Metabolism Reports
|
November 22, 2017
Parkinson's disease prevalence in Fabry disease: A survey study
Adina H Wise, Amy Yang, Hetanshi Naik, et al.
Page
of 10