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Manisha Balwani

Showing results (71-80 of 94) with videos related to

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Clinical Chemistry|October 21, 2015
Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of ProtoporphyriasEric W Gou, Manisha Balwani, D Montgomery Bissell, et al.
Molecular Medicine (Cambridge, Mass.)|February 1, 2013
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyriaManisha Balwani, Dana Doheny, David F Bishop, et al.
American Journal of Hematology|June 2, 2017
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher RegistryPramod K Mistry, Julie L Batista, Hans C Andersson, et al.
JAMA Neurology|April 24, 2014
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotesRoy N Alcalay, Tama Dinur, Timothy Quinn, et al.
Hepatology (Baltimore, Md.)|July 19, 2020
Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias ConsortiumBehnam Saberi, Hetanshi Naik, Jessica R Overbey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 7, 2019
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyriaHetanshi Naik, Jessica R Overbey, Guy H Montgomery, et al.
Hepatology (Baltimore, Md.)|January 26, 2013
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage diseaseManisha Balwani, Catherine Breen, Gregory M Enns, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|October 30, 2021
Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION studyPaolo Ventura, Herbert L Bonkovsky, Laurent Gouya, et al.
American Journal of Hematology|August 2, 2017
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trialPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
Blood|February 8, 2017
Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapyTimothy M Cox, Guillermo Drelichman, Renata Cravo, et al.
Pageof 10

Showing results (71-80 of 94) with videos related to

Sort By:
Pageof 10
Clinical Chemistry|October 21, 2015
Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of ProtoporphyriasEric W Gou, Manisha Balwani, D Montgomery Bissell, et al.
Molecular Medicine (Cambridge, Mass.)|February 1, 2013
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyriaManisha Balwani, Dana Doheny, David F Bishop, et al.
American Journal of Hematology|June 2, 2017
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher RegistryPramod K Mistry, Julie L Batista, Hans C Andersson, et al.
JAMA Neurology|April 24, 2014
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotesRoy N Alcalay, Tama Dinur, Timothy Quinn, et al.
Hepatology (Baltimore, Md.)|July 19, 2020
Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias ConsortiumBehnam Saberi, Hetanshi Naik, Jessica R Overbey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 7, 2019
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyriaHetanshi Naik, Jessica R Overbey, Guy H Montgomery, et al.
Hepatology (Baltimore, Md.)|January 26, 2013
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage diseaseManisha Balwani, Catherine Breen, Gregory M Enns, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|October 30, 2021
Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION studyPaolo Ventura, Herbert L Bonkovsky, Laurent Gouya, et al.
American Journal of Hematology|August 2, 2017
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trialPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
Blood|February 8, 2017
Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapyTimothy M Cox, Guillermo Drelichman, Renata Cravo, et al.
Pageof 10