Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management
Clarke, Lorne A., MD, CM, FRCPC, FCCMG, Atherton, Andrea M., MS, CGC, Burton, Barbara K., MD, FAAP, FACMG, Day-Salvatore, Debra L., MD, PhD, FAAP, FACMG, Kaplan, Paige, MBBCh, FRCPC, FCCMG, FAAP, FACMG, Leslie, Nancy D., MD, Scott, C. Ronald, MD, Stockton, David W., MD, FACMG, Thomas, Janet A., MD, FAAP, FACMG, Muenzer, Joseph, MD, PhD
Published in The Journal of pediatrics (01.03.2017)
Published in The Journal of pediatrics (01.03.2017)
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Journal Article
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study
Longo, Nicola, Zori, Roberto, Wasserstein, Melissa P, Vockley, Jerry, Burton, Barbara K, Decker, Celeste, Li, Mingjin, Lau, Kelly, Jiang, Joy, Larimore, Kevin, Thomas, Janet A
Published in Orphanet journal of rare diseases (04.07.2018)
Published in Orphanet journal of rare diseases (04.07.2018)
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Journal Article
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program
Harding, Cary O., Longo, Nicola, Northrup, Hope, Sacharow, Stephanie, Singh, Rani, Thomas, Janet A., Vockley, Jerry, Zori, Roberto T., Bulloch Whitehall, Kaleigh, Lilienstein, Joshua, Lindstrom, Kristin, Levy, Drew G., Jones, Shaun, Burton, Barbara K.
Published in Molecular genetics and metabolism reports (01.06.2024)
Published in Molecular genetics and metabolism reports (01.06.2024)
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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
Chatfield, Kathryn C, Coughlin, 2nd, Curtis R, Friederich, Marisa W, Gallagher, Renata C, Hesselberth, Jay R, Lovell, Mark A, Ofman, Rob, Swanson, Michael A, Thomas, Janet A, Wanders, Ronald J A, Wartchow, Eric P, Van Hove, Johan L K
Published in Mitochondrion (01.03.2015)
Published in Mitochondrion (01.03.2015)
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Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria
Keating, Amy K., Freehauf, Cynthia, Jiang, Hua, Brodsky, Gary L., Stabler, Sally P., Allen, Robert H., Graham, Douglas K., Thomas, Janet A., Van Hove, Johan L.K., Maclean, Kenneth N.
Published in Molecular genetics and metabolism (01.08.2011)
Published in Molecular genetics and metabolism (01.08.2011)
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Journal Article
Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria
Zori, Roberto, Thomas, Janet A., Shur, Natasha, Rizzo, William B., Decker, Celeste, Rosen, Orli, Li, Mingjin, Schweighardt, Becky, Larimore, Kevin, Longo, Nicola
Published in Molecular genetics and metabolism (01.11.2018)
Published in Molecular genetics and metabolism (01.11.2018)
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Journal Article
Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions
Gilani, Ahmed, Hove, Johan Lk Van, Thomas, Janet A, Kleinschmidt-DeMasters, Bette K
Published in Pediatric and developmental pathology (01.06.2020)
Published in Pediatric and developmental pathology (01.06.2020)
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REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases
Kripps, Kimberly A., Baker, Peter R., Thomas, Janet A., Skillman, Heather E., Bernstein, Laurie, Gaughan, Sommer, Burns, Casey, Coughlin, Curtis R., McCandless, Shawn E., Larson, Austin A., Kochar, Aaina, Stillman, Chelsey F., Wymore, Erica M., Hendricks, Ellie G., Woontner, Michael, Van Hove, Johan L.K.
Published in Molecular genetics and metabolism (01.07.2021)
Published in Molecular genetics and metabolism (01.07.2021)
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Journal Article
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial
Vockley, Jerry, Sondheimer, Neal, Puurunen, Marja, Diaz, George A, Ginevic, Ilona, Grange, Dorothy K, Harding, Cary, Northrup, Hope, Phillips, 3rd, John A, Searle, Shawn, Thomas, Janet A, Zori, Roberto, Denney, William S, Ernst, Sharon L, Humphreys, Kristina, McWhorter, Nicole, Kurtz, Caroline, Brennan, Aoife M
Published in Nature metabolism (01.10.2023)
Published in Nature metabolism (01.10.2023)
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Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial
Van Hove, Johan L. K., Freehauf, Cynthia L., Ficicioglu, Can, Pena, Loren D. M., Moreau, Kerrie L., Henthorn, Thomas K., Christians, Uwe, Jiang, Hua, Cowan, Tina M., Young, Sarah P., Hite, Michelle, Friederich, Marisa W., Stabler, Sally P., Spector, Elaine B., Kronquist, Kathryn E., Thomas, Janet A., Emmett, Peggy, Harrington, Mary J., Pyle, Laura, Creadon‐Swindell, Geralyn, Wempe, Michael F., MacLean, Kenneth N.
Published in Journal of inherited metabolic disease (01.05.2019)
Published in Journal of inherited metabolic disease (01.05.2019)
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Journal Article
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I
Thomas, Janet A, Beck, Michael, Clarke, Joe T. R, Cox, Gerald F
Published in Journal of inherited metabolic disease (01.08.2010)
Published in Journal of inherited metabolic disease (01.08.2010)
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Journal Article
Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy
VAN HOVE, Johan L. K, SAENZ, Margarita S, TURKENBURG, Marjolein, WATERHAM, Hans R, THOMAS, Janet A, GALLAGHER, Renata C, LOVELL, Mark A, FENTON, Laura Z, SHANSKE, Sarah, MYERS, Sommer M, WANDERS, Ronald J. A, RUITER, Jos
Published in Pediatric research (01.08.2010)
Published in Pediatric research (01.08.2010)
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Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency
Stence, Nicholas V., Coughlin, Curtis R., Fenton, Laura Z., Thomas, Janet A.
Published in Pediatric radiology (01.07.2013)
Published in Pediatric radiology (01.07.2013)
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The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle
Brautbar, Ariel, Wang, Jing, Abdenur, Jose E., Chang, Richard C., Thomas, Janet A., Grebe, Theresa A., Lim, Cynthia, Weng, Shao-Wen, Graham, Brett H., Wong, Lee-Jun
Published in Molecular genetics and metabolism (01.08.2008)
Published in Molecular genetics and metabolism (01.08.2008)
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Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance
Tsai, Anne Chun‐Hui, Morel, Chantal F., Scharer, Gunter, Yang, Michael, Lerner‐Ellis, Jordan P., Rosenblatt, David S., Thomas, Janet A.
Published in American journal of medical genetics. Part A (15.10.2007)
Published in American journal of medical genetics. Part A (15.10.2007)
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Journal Article
Management of a patient with holocarboxylase synthetase deficiency
Van Hove, Johan L.K., Josefsberg, Sagi, Freehauf, Cynthia, Thomas, Janet A., Thuy, Le Phuc, Barshop, Bruce A., Woontner, Michael, Mock, Donald M., Chiang, Pei-Wen, Spector, Elaine, Meneses-Morales, Iván, Cervantes-Roldán, Rafael, León-Del-Río, Alfonso
Published in Molecular genetics and metabolism (01.12.2008)
Published in Molecular genetics and metabolism (01.12.2008)
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Journal Article
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy
Van Hove, Johan L K, Saenz, Margarita S, Thomas, Janet A, Gallagher, Renata C, Lovell, Mark A, Fenton, Laura Z, Shanske, Sarah, Myers, Sommer M, Wanders, Ronald J A, Ruiter, Jos, Turkenburg, Marjolein, Waterham, Hans R
Published in Pediatric research (01.08.2010)
Published in Pediatric research (01.08.2010)
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