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Liver International : Official Journal of the International Association for the Study of the Liver
|
April 15, 2024
Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management
Manisha Balwani, Siobán Keel, Peter Meissner, et al.
Molecular Genetics and Metabolism
|
December 23, 2020
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York
Luca Fierro, Nora Nesheiwat, Hetanshi Naik, et al.
Molecular Genetics and Metabolism
|
June 4, 2021
Porphyria attacks in prepubertal children and adolescents
Daniel A Jaramillo-Calle, Yuliana A Martinez, Manisha Balwani, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
|
July 26, 2011
A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen
Jinglan Zhang, Makiko Yasuda, Robert J Desnick, et al.
Human Mutation
|
April 28, 2007
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring
Marie E Grace, Manisha Balwani, Irina Nazarenko, et al.
Molecular Genetics and Metabolism
|
December 16, 2025
Complementary and alternative medicines and cannabis use among individuals with erythropoietic protoporphyria
Emma Draisin, Chloe Paige Rome, Karli Hedstrom, et al.
Molecular Genetics and Metabolism
|
July 9, 2026
Complementary and alternative medicines and cannabis use among individuals with acute intermittent porphyria
Arnhildur Tomasdottir, Karli Hedstrom, Jessica R Overbey, et al.
Molecular Genetics and Metabolism
|
November 21, 2018
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations
Yedidyah Weiss, Manisha Balwani, Brenden Chen, et al.
Molecular Genetics and Metabolism
|
November 27, 2019
Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: Consensus recommendations from an international collaborative working group
Rohit Kohli, Vlad Ratziu, Maria Isabel Fiel, et al.
Molecular Genetics and Metabolism Reports
|
February 12, 2020
The N370S/R496H genotype in type 1 Gaucher disease - Natural history and implications for pre symptomatic diagnosis and counseling
Natasha Zeid, Chanan Stauffer, Amy Yang, et al.
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Search research articles
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Showing results (21-30 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
|
April 15, 2024
Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management
Manisha Balwani, Siobán Keel, Peter Meissner, et al.
Molecular Genetics and Metabolism
|
December 23, 2020
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York
Luca Fierro, Nora Nesheiwat, Hetanshi Naik, et al.
Molecular Genetics and Metabolism
|
June 4, 2021
Porphyria attacks in prepubertal children and adolescents
Daniel A Jaramillo-Calle, Yuliana A Martinez, Manisha Balwani, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
|
July 26, 2011
A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen
Jinglan Zhang, Makiko Yasuda, Robert J Desnick, et al.
Human Mutation
|
April 28, 2007
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring
Marie E Grace, Manisha Balwani, Irina Nazarenko, et al.
Molecular Genetics and Metabolism
|
December 16, 2025
Complementary and alternative medicines and cannabis use among individuals with erythropoietic protoporphyria
Emma Draisin, Chloe Paige Rome, Karli Hedstrom, et al.
Molecular Genetics and Metabolism
|
July 9, 2026
Complementary and alternative medicines and cannabis use among individuals with acute intermittent porphyria
Arnhildur Tomasdottir, Karli Hedstrom, Jessica R Overbey, et al.
Molecular Genetics and Metabolism
|
November 21, 2018
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations
Yedidyah Weiss, Manisha Balwani, Brenden Chen, et al.
Molecular Genetics and Metabolism
|
November 27, 2019
Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: Consensus recommendations from an international collaborative working group
Rohit Kohli, Vlad Ratziu, Maria Isabel Fiel, et al.
Molecular Genetics and Metabolism Reports
|
February 12, 2020
The N370S/R496H genotype in type 1 Gaucher disease - Natural history and implications for pre symptomatic diagnosis and counseling
Natasha Zeid, Chanan Stauffer, Amy Yang, et al.
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