Long term outcome and clinical experience on immune tolerance induction therapies in infantile Pompe disease

по Austin, Stephanie, Kishnani, Priya
Опубликовано 2013

Liver depot gene therapy for Pompe disease

по Kishnani, Priya S., Koeberl, Dwight D.
Опубликовано в: Ann Transl Med (2019)

Right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations

по Prasun, Pankaj, Bailey, Lauren A., Kishnani, Priya S.
Опубликовано в: Mol Genet Metab Rep (2014)

Gene therapy for glycogen storage diseases

по Kishnani, Priya S, Sun, Baodong, Koeberl, Dwight D
Опубликовано в: Hum Mol Genet (2019)

Letter to the Editors: Concerning “Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia” by Lee et al.

по Brooks, Elizabeth D., Kishnani, Priya S., Koeberl, Dwight D.
Опубликовано в: J Inherit Metab Dis (2018)

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease

по Pena, Loren D. M., Proia, Alan D., Kishnani, Priya S.
Опубликовано в: JIMD Rep (2015)

An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond

по Korlimarla, Aditi, Lim, Jeong-A, Kishnani, Priya S., Sun, Baodong
Опубликовано в: Ann Transl Med (2019)

Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review

по Desai, Ankit K., Li, Cindy, Rosenberg, Amy S., Kishnani, Priya S.
Опубликовано в: Ann Transl Med (2019)

Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver

по Sun, Tao, Yi, Haiqing, Yang, Chunyu, Kishnani, Priya S., Sun, Baodong
Опубликовано в: J Biol Chem (2016)

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV

по Yi, Haiqing, Gao, Fengqin, Austin, Stephanie, Kishnani, Priya S, Sun, Baodong
Опубликовано в: Mol Genet Metab Rep (2016)

A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV

по Yi, Haiqing, Zhang, Quan, Yang, Chunyu, Kishnani, Priya S., Sun, Baodong
Опубликовано в: JIMD Rep (2016)

Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy

по Desai, Ankit K., Kazi, Zoheb B., Bali, Deeksha S., Kishnani, Priya S.
Опубликовано в: Mol Genet Metab Rep (2019)

Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder

по Hart, Sarah J., Worley, Gordon, Kishnani, Priya S., Van Mater, Heather
Опубликовано в: Front Neurol (2021)

Pompe disease- experience from South India

по Lingappa, Lokesh, Devi, Radha Rama, Dherai, Alpa, Rehder, Catherene, Kishnani, Priya
Опубликовано 2013

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth

по Mori, Mari, DeArmey, Stephanie L., Weber, Thomas J., Kishnani, Priya S.
Опубликовано в: Bone Rep (2016)

Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood

по Patel, Bimal, Pendyal, Surekha, Kishnani, Priya S., McDonald, Marie, Bailey, Lauren
Опубликовано в: JIMD Rep (2017)

Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX

по Fernandes, Samuela A., Cooper, Gabrielle E., Gibson, Rebecca Anne, Kishnani, Priya S.
Опубликовано в: Mol Genet Metab (2020)

Cardiac Remodeling After Enzyme Replacement Therapy with Acid α-Glucosidase for Infants with Pompe Disease

по Levine, Jami C., Kishnani, Priya S., Chen, Y. T., Herlong, J. Rene, Li, Jennifer S.
Опубликовано 2008

Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers

по Stenger, Elizabeth O., Kazi, Zoheb, Lisi, Emily, Gambello, Michael J., Kishnani, Priya
Опубликовано в: Mol Genet Metab Rep (2015)

Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease

по Ajay, Divya, McNamara, Erin R., Austin, Stephanie, Wiener, John S., Kishnani, Priya
Опубликовано в: JIMD Rep (2015)