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

Por Prasun, Pankaj, Ginevic, Ilona, Oishi, Kimihiko
Publicado no Transl Gastroenterol Hepatol (2021)

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

Por Imagawa, Eri, Diaz, George A., Oishi, Kimihiko
Publicado no Mol Genet Metab Rep (2020)

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

Por Chapel-Crespo, Cristel C., Diaz, George A., Oishi, Kimihiko
Publicado no Expert Rev Endocrinol Metab (2016)

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

Por Pagani, Mario R., Oishi, Kimihiko, Gelb, Bruce D., Zhong, Yi
Publicado em 2009

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

Por Oishi, Kimihiko, Arnon, Ronen, Wasserstein, Melissa P., Diaz, George A.
Publicado no Pediatr Transplant (2016)

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

Por Siegel, Casey, Arnon, Ronen, Florman, Sander, Bucuvalas, John, Oishi, Kimihiko
Publicado no Nutrients (2020)

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

Por Prasun, Pankaj, Chapel-Crespo, Cristel, Williamson, Amy, Chu, Paul, Oishi, Kimihiko, Diaz, George
Publicado no J Inherit Metab Dis (2017)

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

Por Schussler, Edith, Linkner, Rita V, Levitt, Jacob, Mehta, Lakshmi, Martignetti, John A, Oishi, Kimihiko
Publicado no Adv Genomics Genet (2018)

Knowledge and attitudes on pharmacogenetics among pediatricians

Por Rahawi, Shahad, Naik, Hetanshi, Blake, Kathryn V., Owusu Obeng, Aniwaa, Wasserman, Rachel M., Seki, Yoshinori, Funanage, Vicky L., Oishi, Kimihiko, Scott, Stuart A.
Publicado no J Hum Genet (2020)

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

Por 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.
Publicado em 2009

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

Por 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.
Publicado em 2008

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

Por 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.
Publicado no 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

Por 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.
Publicado no Genet Med (2020)