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Molecular Genetics and Metabolism|September 6, 2016
Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative studyHetanshi Naik, Mikayla Stoecker, Saskia C Sanderson, et al.
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 managementManisha 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 YorkLuca Fierro, Nora Nesheiwat, Hetanshi Naik, et al.
Molecular Genetics and Metabolism|June 4, 2021
Porphyria attacks in prepubertal children and adolescentsDaniel 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 porphobilinogenJinglan 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 monitoringMarie 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 protoporphyriaEmma 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 porphyriaArnhildur 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 mutationsYedidyah Weiss, Manisha Balwani, Brenden Chen, 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 counselingNatasha Zeid, Chanan Stauffer, Amy Yang, et al.
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