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Expert Review of Gastroenterology & Hepatology
|
August 5, 2022
Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran
Paolo Ventura, Eliane Sardh, Nicola Longo, et al.
Lancet (London, England)
|
March 31, 2015
Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial
Timothy M Cox, Guillermo Drelichman, Renata Cravo, et al.
Molecular Genetics and Metabolism
|
August 10, 2019
Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria
Charles J Parker, Robert J Desnick, Montgomery D Bissel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 18, 2024
Skin α-Synuclein Seeding Activity in Patients with Type 1 Gaucher Disease
Mary Kate LoPiccolo, Zerui Wang, Gadi Maayan Eshed, et al.
American Journal of Hematology
|
April 30, 2024
Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry
Pramod K Mistry, Manisha Balwani, Joel Charrow, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 6, 2021
Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease
Matthew Surface, Manisha Balwani, Cheryl Waters, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
June 9, 2025
A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria
Mohsen Merati, Nanditha Jayakumar, Yuvraaj Kapoor, et al.
Journal of Inherited Metabolic Disease
|
November 25, 2010
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R
Alev Hasanoglu, Manisha Balwani, Ciğdem S Kasapkara, et al.
JIMD Reports
|
November 20, 2019
Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria
Hetanshi Naik, Jessica R Overbey, Robert J Desnick, et al.
JAMA Dermatology
|
June 15, 2017
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria
Manisha Balwani, Hetanshi Naik, Karl E Anderson, et al.
Page
of 10
Search research articles
Search
Showing results (61-70 of 94) with videos related to
Sort By:
Page
of 10
Expert Review of Gastroenterology & Hepatology
|
August 5, 2022
Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran
Paolo Ventura, Eliane Sardh, Nicola Longo, et al.
Lancet (London, England)
|
March 31, 2015
Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial
Timothy M Cox, Guillermo Drelichman, Renata Cravo, et al.
Molecular Genetics and Metabolism
|
August 10, 2019
Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria
Charles J Parker, Robert J Desnick, Montgomery D Bissel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 18, 2024
Skin α-Synuclein Seeding Activity in Patients with Type 1 Gaucher Disease
Mary Kate LoPiccolo, Zerui Wang, Gadi Maayan Eshed, et al.
American Journal of Hematology
|
April 30, 2024
Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry
Pramod K Mistry, Manisha Balwani, Joel Charrow, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 6, 2021
Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease
Matthew Surface, Manisha Balwani, Cheryl Waters, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
June 9, 2025
A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria
Mohsen Merati, Nanditha Jayakumar, Yuvraaj Kapoor, et al.
Journal of Inherited Metabolic Disease
|
November 25, 2010
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R
Alev Hasanoglu, Manisha Balwani, Ciğdem S Kasapkara, et al.
JIMD Reports
|
November 20, 2019
Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria
Hetanshi Naik, Jessica R Overbey, Robert J Desnick, et al.
JAMA Dermatology
|
June 15, 2017
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria
Manisha Balwani, Hetanshi Naik, Karl E Anderson, et al.
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of 10