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Orphanet Journal of Rare Diseases|October 3, 2024
Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension studyEliane Sardh, Manisha Balwani, David C Rees, et al.Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2021
Cytokines and Gaucher Biomarkers in Glucocerebrosidase Carriers with and Without Parkinson DiseaseJasmin Galper, Manisha Balwani, Stanley Fahn, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2016
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screeningAmy C Yang, Louise Bier, Jessica R Overbey, et al.Chest|July 9, 2022
A 51-Year-Old Woman With Interstitial Lung Disease and Subsequent COVID-19 Presenting With Worsening DyspneaNicole Ng, Jigna Zatakia, Mary B Beasley, et al.JIMD Reports|April 21, 2025
Self-Reported Liver Disease and the Burden of Erythropoietic ProtoporphyriaHetanshi Naik, Kristen Wheeden, Hilary H Colwell, et al.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 studyVĕra 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) StudyHetanshi Naik, Manisha Balwani, Hilary H Colwell, et al.Radiographics : a Review Publication of the Radiological Society of North America, Inc|March 22, 2006
Hysterosalpingography: a reemerging studyWilliam L Simpson, Laura G Beitia, Jolinda MesterJournal 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). J. Clin. Med. 2022, 11, 5158Pramod K Mistry, Priya S Kishnani, Manisha Balwani, et al.Clinical Imaging|April 9, 2024
The anatomy and pathology of the space of RetziusJanki Patel, Arielle Sasson, William L Simpson, et al.Pageof 13