Mitochondrial dysfunction in nonalcoholic fatty liver disease and alcohol related liver disease

di Prasun, Pankaj, Ginevic, Ilona, Oishi, Kimihiko
Pubblicato in Transl Gastroenterol Hepatol (2021)

A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I

di Imagawa, Eri, Diaz, George A., Oishi, Kimihiko
Pubblicato in Mol Genet Metab Rep (2020)

Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders

di Chapel-Crespo, Cristel C., Diaz, George A., Oishi, Kimihiko
Pubblicato in Expert Rev Endocrinol Metab (2016)

Spacing Effect: SHP2 Phosphatase Regulates Resting Intervals Between Learning Trials in Long-Term Memory Induction

di Pagani, Mario R., Oishi, Kimihiko, Gelb, Bruce D., Zhong, Yi
Pubblicazione 2009

Liver transplantation for pediatric inherited metabolic disorders: considerations for indications, complications, perioperative management

di Oishi, Kimihiko, Arnon, Ronen, Wasserstein, Melissa P., Diaz, George A.
Pubblicato in Pediatr Transplant (2016)

Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia

di Siegel, Casey, Arnon, Ronen, Florman, Sander, Bucuvalas, John, Oishi, Kimihiko
Pubblicato in Nutrients (2020)

Skin lesions in a patient with Cobalamin C disease in poor metabolic control

di Prasun, Pankaj, Chapel-Crespo, Cristel, Williamson, Amy, Chu, Paul, Oishi, Kimihiko, Diaz, George
Pubblicato in J Inherit Metab Dis (2017)

Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation

di Schussler, Edith, Linkner, Rita V, Levitt, Jacob, Mehta, Lakshmi, Martignetti, John A, Oishi, Kimihiko
Pubblicato in Adv Genomics Genet (2018)

Knowledge and attitudes on pharmacogenetics among pediatricians

di Rahawi, Shahad, Naik, Hetanshi, Blake, Kathryn V., Owusu Obeng, Aniwaa, Wasserman, Rachel M., Seki, Yoshinori, Funanage, Vicky L., Oishi, Kimihiko, Scott, Stuart A.
Pubblicato in J Hum Genet (2020)

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

di Oishi, Kimihiko, Zhang, Hui, Gault, William J., Wang, Cindy J., Tan, Cheryl C., Kim, In-Kyong, Ying, Huiwen, Rahman, Tabassum, Pica, Natalie, Tartaglia, Marco, Mlodzik, Marek, Gelb, Bruce D.
Pubblicazione 2009

Transcription factor Ap2δ associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription

di Tan, Cheryl C., Sindhu, K. V., Li, SiDe, Nishio, Hitomi, Stoller, Jason Z., Oishi, Kimihiko, Puttreddy, Sahitya, Lee, Tamara J., Epstein, Jonathan A., Walsh, Martin J., Gelb, Bruce D.
Pubblicazione 2008

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

di Tanaka, Akemi J., Cho, Megan T., Willaert, Rebecca, Retterer, Kyle, Zarate, Yuri A., Bosanko, Katie, Stefans, Vikki, Oishi, Kimihiko, Williamson, Amy, Wilson, Golder N., Basinger, Alice, Barbaro-Dieber, Tina, Ortega, Lucia, Sorrentino, Susanna, Gabriel, Melissa K., Anderson, Ilse J., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Chung, Wendy K.
Pubblicato in Cold Spring Harb Mol Case Stud (2017)

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

di van Rijt, Willemijn J., Jager, Emmalie A., Allersma, Derk P., Aktuğlu Zeybek, A. Çiğdem, Bhattacharya, Kaustuv, Debray, François-Guillaume, Ellaway, Carolyn J., Gautschi, Matthias, Geraghty, Michael T., Gil-Ortega, David, Larson, Austin A., Moore, Francesca, Morava, Eva, Morris, Andrew A., Oishi, Kimihiko, Schiff, Manuel, Scholl-Bürgi, Sabine, Tchan, Michel C., Vockley, Jerry, Witters, Peter, Wortmann, Saskia B., van Spronsen, Francjan, Van Hove, Johan L. K., Derks, Terry G. J.
Pubblicato in Genet Med (2020)