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Pramod K. Mistry

Yale University

57H指数
321论文数
1.0W被引数
收录论文 128
发表时间
Precision genomic profiling in Gaucher disease: insights from atypical presentations高雪氏病中的精准基因组分析:来自非典型表现的见解
err2025-11-07
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errOAAI
errArmaan Saith†; Noor Ul Ain†; Jiapeng Ruan†; Maniya Kasaiyan; Dhanpat Jain; Gary Israel; Sameet Mehta; Nigel S. Bamford; Shiny Nair; Pramod K. Mistry
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Liver Diseases in Inborn Errors of Metabolism先天性代谢错误中的肝脏疾病
err2025-05-24
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PREAI
errNoor Ul Ain; Nima Fattahi; Dhanpat Jain; Pramod K. Mistry
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Eliglustat and cardiac comorbidities in Gaucher disease: a pharmacogenomic approach to safety and efficacy
err2025-03-17
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errOAAI
errUl Ain, Noor; Saith, Armaan; Ruan, Audrey; Yang, Ruhua; Burton, Aaron; Mistry, Pramod K.
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Molecular cell atlas of the brain in neuronopathic Gaucher disease
err2025-02-01
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PREAI
errNair, Shiny; Mehta, Sameet; Belinsky, Glenn S.; Mistry, Pramod K.
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Investigating the genomic basis of phenotypic diversity among siblings in Gaucher disease
err2025-02-01
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PREAI
errUl Ain, Noor; Kulkarni, Nina; Ruan, Jiapeng; Ruan, Audrey; Nair, Shiny; Mehta, Sameet; Mistry, Pramod K.
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Long-term outcomes of imiglucerase treatment in children withGaucher disease type 1 or type 3 starting therapy before the age of2 years在2岁之前开始治疗的1型或3型gaucher病儿童的imiglucerase治疗的长期结果
err2025-02-01
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PREAI
errMistry, Pramod K.; Carwile, Jenny L.; Burrow, Andrew; Ganesh, Jaya; Camelo Jr, Jose Simon; Hennermann, Julia B.; Batista, Julie L.; Oliveira-dos-Santos, Antonio; Perichon, Maria G.; Tantawy, Azza
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Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals
err2025-01-01
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errOAAI
errMistry, Pramod K.; Cassiman, David; Jones, Simon A.; Lachmann, Robin; Lukina, Elena; Prada, Carlos E.; Wasserstein, Melissa P.; Thurberg, Beth L.; Foster, Meredith C.; Patel, Reema M.; Underhill, Lisa H.; Peterschmitt, M. Judith
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Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registryeliglustat治疗的长期有效性: 来自国际合作Gaucher Group Gaucher注册表的真实世界分析
err2024-04-30
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errMistry, Pramod K.; Balwani, Manisha; Charrow, Joel; Lorber, Jeremy; Niederau, Claus; Carwile, Jenny L.; Oliveira-dos-Santos, Antonio; Perichon, Maria Gabriela; Uslu Cil, Sefika; Kishnani, Priya S.
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Age-specific risk of Parkinson disease and Parkinsonian syndrome in patients with Gaucher disease type 1: Real-world evidence from the International Collaborative Gaucher Group Gaucher Registry
err2024-02-01
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PREAI
errBalwani, Manisha; Mistry, Pramod K.; di Fonzo, Alessio Barnaba; Batista, Julie; Bianculli, Pablo; Carwile, Jenny L.; Perichon, Maria; Alcalay, Roy
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Digenic disorders in patients with Gaucher disease: Implications for clinical management and study of modifier genes
err2024-02-01
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PREAI
errSaith, Armaan; Kasaiyan, Maniya; Ruan, Jiapeng; Basiri, Mohsen; Mistry, Pramod K.
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Eliglustat substrate reduction therapy in pediatric patients with Gaucher disease
err2024-02-01
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PREAI
errSaith, Armaan; Basiri, Mohsen; Yang, Ruhua; Mistry, Pramod K.
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Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center
err2023-05-30
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errOAAI
errBasiri, Mohsen; Ghaffari, Mohammad E.; Ruan, Jiapeng; Murugesan, Vagishwari; Kleytman, Nathaniel; Belinsky, Glenn; Akhavan, Amir; Lischuk, Andrew; Guo, Lilu; Klinger, Katherine; Mistry, Pramod K.
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