Reye Syndrome

Por De Vivo, Darryl C.
Publicado no Neurol Clin (1985)

Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond

Por Monani, Umrao R, De Vivo, Darryl C
Publicado em 2014

Therapeutic strategies for glucose transporter 1 deficiency syndrome

Por Tang, Maoxue, Park, Sarah H., De Vivo, Darryl C., Monani, Umrao R.
Publicado no Ann Clin Transl Neurol (2019)

Transient hyperreflexia: An early diagnostic clue in later-onset spinal muscular atrophy

Por Oskoui, Maryam, Kim, Dong Hyun, Mentis, George Z., De Vivo, Darryl C.
Publicado no Neurol Clin Pract (2020)

Maternal Calorie Restriction Causing Uteroplacental Insufficiency Differentially Affects Mammalian Placental Glucose and Leucine Transport Molecular Mechanisms

Por Ganguly, Amit, Touma, Marlin, Thamotharan, Shanthie, De Vivo, Darryl C., Devaskar, Sherin U.
Publicado no Endocrinology (2016)

Selective deficits in verbal working memory associated with a known genetic etiology: The neuropsychological profile of Duchenne muscular dystrophy

Por HINTON, VERONICA J., DE VIVO, DARRYL C., NEREO, NANCY E., GOLDSTEIN, EDWARD, STERN, YAAKOV
Publicado em 2001

Hypoalaninemia: a concomitant of ketotic hypoglycemia

Por Pagliara, Anthony S., Karl, Irene E., De Vivo, Darryl C., Feigin, Ralph D., Kipnis, David M.
Publicado em 1972

Delayed Developmental Language Milestones in Children with Duchenne’s Muscular Dystrophy

Por Cyrulnik, Shana E., Fee, Robert J., De Vivo, Darryl C., Goldstein, Edward, Hinton, Veronica J.
Publicado em 2007

Structural Signatures and Membrane Helix 4 in GLUT1: INFERENCES FROM HUMAN BLOOD-BRAIN GLUCOSE TRANSPORT MUTANTS

Por Pascual, Juan M., Wang, Dong, Yang, Ru, Shi, Lei, Yang, Hong, De Vivo, Darryl C.
Publicado em 2008

Paroxysmal eye–head movements in Glut1 deficiency syndrome

Por Pearson, Toni S., Pons, Roser, Engelstad, Kristin, Kane, Steven A., Goldberg, Michael E., De Vivo, Darryl C.
Publicado no Neurology (2017)

Glut1 Deficiency: Inheritance Pattern Determined by Haploinsufficiency

Por Rotstein, Michael, Engelstad, Kristin, Yang, Hong, Wang, Dong, Levy, Brynn, Chung, Wendy K., De Vivo, Darryl C.
Publicado em 2010

Long Survival in Patients with Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature

Por Levy, Rebecca J., Ríos, Purificación Gutierrez, Akman, Hasan O., Sciacco, Monica, De Vivo, Darryl C., DiMauro, Salvatore
Publicado em 2013

CoQ(10) Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome

Por Barca, Emanuele, Tang, Maoxue, Kleiner, Giulio, Engelstad, Kristin, DiMauro, Salvatore, Quinzii, Catarina M., De Vivo, Darryl C.
Publicado no JIMD Rep (2015)

The Molecular Basis of Pyruvate Carboxylase Deficiency: Mosaicism correlates with prolonged survival

Por Wang, Dong, Yang, Hong, De Braganca, Kevin C., Lu, Jiesheng, Yu Shih, Ling, Briones, Paz, De Vivo, Darryl C.
Publicado em 2008

Exploring mTOR inhibition as treatment for mitochondrial disease

Por Sage‐Schwaede, Abigail, Engelstad, Kristin, Salazar, Rachel, Curcio, Angela, Khandji, Alexander, Garvin Jr, James H., De Vivo, Darryl C.
Publicado no Ann Clin Transl Neurol (2019)

Longitudinal Changes of mtDNA A3243G Mutation Load and Level of Functioning in MELAS

Por Mehrazin, Mahsa, Shanske, Sara, Kaufmann, Petra, Wei, Ying, Coku, Jorida, Engelstad, Kristin, Naini, Ali, De Vivo, Darryl C, DiMauro, Salvatore
Publicado em 2009

Increased fat mass and high incidence of overweight despite low body mass index in patients with Spinal Muscular Atrophy

Por Sproule, Douglas M., Montes, Jacqueline, Montgomery, Megan, Battista, Vanessa, Koenigsberger, Dorcas, Shen, Wei, Punyanitya, Mark, De Vivo, Darryl C., Kaufmann, Petra
Publicado em 2009

Erythrocyte 3‐O‐methyl‐D‐glucose uptake assay for diagnosis of glucose‐transporter‐protein syndrome

Por Klepper, Jörg, Garcia‐Alvarez, Marcela, O'Driscoll, Kevin R., Parides, Michael K., Wang, Dong, Ho, Yuan Yuan, De Vivo, Darryl C.
Publicado no J Clin Lab Anal (1999)

Limitations of 6-minute walk test reference values for spinal muscular atrophy

Por Goodwin, Ashley M., Cornett, Kayla M.D., McKay, Marnee J., Burns, Joshua, Garber, Carol Ewing, De Vivo, Darryl C., Montes, Jacqueline
Publicado no Muscle Nerve (2020)

Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis

Por Ullner, Paivi M., Di Nardo, Alessia, Goldman, James E., Schobel, Scott, Yang, Hong, Engelstad, Kristin, Wang, Dong, Sahin, Mustafa, De Vivo, Darryl C.
Publicado em 2009