Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

por Marsden, Deborah, Bedrosian, Camille L., Vockley, Jerry
Publicado 2021

Medium chain acyl-CoA dehydrogenase deficiency in a premature infant

por Dobrowolski, Steven F., Ghaloul-Gonzalez, Lina, Vockley, Jerry
Publicado 2017

Biomarkers for drug development in propionic and methylmalonic acidemias

por Longo, Nicola, Sass, Jörn Oliver, Jurecka, Agnieszka, Vockley, Jerry
Publicado 2022

Women Have Higher Protein Content of β-Oxidation Enzymes in Skeletal Muscle than Men

por Maher, Amy C., Akhtar, Mahmood, Vockley, Jerry, Tarnopolsky, Mark A.
Publicado 2010

Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives

por Offiah, Amaka C., Vockley, Jerry, Munns, Craig F., Murotsuki, Jun
Publicado 2018

Fasting induces prominent proteomic changes in liver in very long chain Acyl-CoA dehydrogenase deficient mice

por Wang, Wei, Palmfeldt, Johan, Mohsen, Al-Walid, Gregersen, Niels, Vockley, Jerry
Publicado 2016

A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy

por Karaa, Amel, Haas, Richard, Goldstein, Amy, Vockley, Jerry, Cohen, Bruce H.
Publicado 2020

The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

por Woerner, Audrey C., Gallagher, Renata C., Vockley, Jerry, Adhikari, Aashish N.
Publicado 2021

A proposed nosology of inborn errors of metabolism

por Ferreira, Carlos R., van Karnebeek, Clara D.M., Vockley, Jerry, Blau, Nenad
Publicado 2018

Improving diagnosis of mitochondrial fatty-acid oxidation disorders

por Vianey-Saban, Christine, Fouilhoux, Alain, Vockley, Jerry, Acquaviva-Bourdain, Cécile, Guffon, Nathalie
Publicado 2023

Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy

por Karaa, Amel, Haas, Richard, Goldstein, Amy, Vockley, Jerry, Weaver, W. Douglas, Cohen, Bruce H.
Publicado 2018

Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders

por Sklirou, Evgenia, Alodaib, Ahmad N., Dobrowolski, Steven F., Mohsen, Al-Walid A., Vockley, Jerry
Publicado 2021

Dietary management and major clinical events in patients with longchain fatty acid oxidation disorders enrolled in a phase 2 triheptanoin study

por Vockley, Jerry, Longo, Nicola, Madden, Megan, Dwyer, Lauren, Mu, Yunming, Chen, Chao-Yin, Cataldo, Jason
Publicado 2020

Natural history of propionic acidemia in the Amish population

por Ehrenberg, Sarah, Walsh Vockley, Catherine, Heiman, Paige, Ammous, Zineb, Wenger, Olivia, Vockley, Jerry, Ghaloul-Gonzalez, Lina
Publicado 2022

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

por Grünert, Sarah C, Wendel, Udo, Lindner, Martin, Leichsenring, Michael, Schwab, K Otfried, Vockley, Jerry, Lehnert, Willy, Ensenauer, Regina
Publicado 2012

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics

por Prabhu, Dolly, Goldstein, Amy C., El-Khoury, Riyad, Rak, Malgorzata, Edmunds, Lia, Rustin, Pierre, Vockley, Jerry, Schiff, Manuel
Publicado 2015

ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice

por Bloom, Kaitlyn, Karunanidhi, Anuradha, Tobita, Kimimasa, Hoppel, Charles, Thiels, Edda, Peet, Eloise, Wang, Yudong, Basu, Shrabani, Vockley, Jerry
Publicado 2020

The Use of External Controls in FDA Regulatory Decision Making

por Jahanshahi, Mahta, Gregg, Keith, Davis, Gillian, Ndu, Adora, Miller, Veronica, Vockley, Jerry, Ollivier, Cecile, Franolic, Tanja, Sakai, Sharon
Publicado 2021

Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly

por Xia, Chuanwu, Lou, Baoying, Fu, Zhuji, Mohsen, Al-Walid, Shen, Anna L., Vockley, Jerry, Kim, Jung-Ja P.
Publicado 2021

Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS da...

por Lim, Chelsey Chaehee, Vockley, Jerry, Ujah, Otobo, Kirby, Russell S., Edick, Mathew J., Berry, Susan A., Arnold, Georgianne L.
Publicado 2022