Search Results - "Baker, Joshua J."

Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease by Rasmussen, Carly A., Quadri, Allegra, Vucko, Erika, Kim, Katherine, Hickey, Rachel, Baker, Joshua J., Charrow, Joel, Prada, Carlos E.

“…Glucosylsphingosine (lyso-GL1) is a biomarker used to monitor disease and treatment response in Gaucher disease. Data from adults show that higher values of…”
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Aminotransferase trends in propionic acidemia by Silva, Maria P., Raski, Carolyn R., Charrow, Joel, Baker, Joshua J., Prada, Carlos E.

“…Propionic acidemia is a metabolic condition with multiple serious acute and chronic presentations that require strict monitoring. Literature on liver function…”
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Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype by Slattery, Susan M., Wilkinson, James, Mittal, Angeli, Zheng, Charlie, Easton, Nicholas, Singh, Saumya, Baker, Joshua J., Rand, Casey M., Khaytin, Ilya, Stewart, Tracey M., Demeter, David, Weese-Mayer, Debra E.

“…Background Congenital Central Hypoventilation Syndrome (CCHS) has devastating consequences if not diagnosed promptly. Despite identification of the…”
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Recent developments in fetal alcohol spectrum disorder by Baker, Joshua J., Stoler, Joan M.

“…To highlight research, publications, and medical advancements in fetal alcohol spectrum disorder (FASD) over the past 18 months. Prevalence numbers have been…”
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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants by Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel, Howard, Caoimhe, Hughes, Joanne, Konstantopoulou, Vassiliki, Kose, Melis, Kerr, Marina, Khan, Aneal, Lenz, Dominic, McFarland, Robert, Margolis, Merav Gil, Morrison, Kevin, Müller, Thomas, Murayama, Kei, Nicastro, Emanuele, Pennisi, Alessandra, Peters, Heidi, Piekutowska-Abramczuk, Dorota, Rötig, Agnès, Santer, René, Scaglia, Fernando, Schiff, Manuel, Shagrani, Mohmmad, Sharrard, Mark, Soler-Alfonso, Claudia, Staufner, Christian, Storey, Imogen, Stormon, Michael, Taylor, Robert W., Thorburn, David R., Teles, Elisa Leao, Wang, Jian-She, Weghuber, Daniel, Wortmann, Saskia

“…This study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU…”
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Diagnosis and Clinical Management of Long-chain Fatty-acid Oxidation Disorders: A Review by Baker, Joshua J, Burton, Barbara K

“…Long-chain fatty-acid oxidation disorders (LC-FAODs) are autosomal recessive inherited metabolic conditions that occur due to a disruption in the body's…”
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A retrospective study of adult patients with noncirrhotic hyperammonemia by Stergachis, Andrew B., Mogensen, Kris M., Khoury, Charbel C., Lin, Alexander P., Peake, Roy WA, Baker, Joshua J., Barkoudah, Ebrahim, Sahai, Inderneel, Sweetser, David A., Berry, Gerard T., Krier, Joel B.

“…Adult‐onset noncirrhotic hyperammonemia (NCH) is poorly understood and has a high morbidity and mortality. To elucidate the etiology and management of NCH, we…”
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Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses by Vucko, Erika R., Havens, Kirsten E., Baker, Joshua J., Burton, Barbara K.

“…In 2018, pegvaliase was approved as the first enzyme substitution treatment for phenylketonuria (PKU) and is now the second medication available for PKU…”
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Multi-Vehicle Cooperation Over Rough Terrain: Experiments with Passive Coupling by Baker, Joshua J

“…This work presents a passive coupling and control architecture for multiple ground robots to distribute loads across multiple robots. Six types of couplings…”
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Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses by Vucko, Erika R, Havens, Kirsten E, Baker, Joshua J, Burton, Barbara K

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