JanetAThomasMD

PubMed

• 4 citations
  A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials
  Barbara K. Burton, Anne Skalicky, Christoph Baerwald, Deborah A. Bilder, Cary O. Harding, Aaron B. Ilan, Elaina Jurecki, Nicola Longo, David T. Madden, H. Serap Sivri,...> ;Molecular Genetics and Metabolism Reports. 2021 Nov 9
• 10 citations
  Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics.
  Darius Adams, Hans C. Andersson, Heather Bausell, Kea Crivelly, Caroline Eggerding, Melissa Lah, Joshua Lilienstein, Kristin Lindstrom, Markey C. McNutt, Joseph W. Ray...> ;Molecular Genetics and Metabolism Reports. 2021 Sep 1
• 4 citations
  REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.
  Kimberly A. Kripps, Peter R. Baker, Janet A. Thomas, Heather E. Skillman, Laurie Bernstein, Sommer Gaughan, Casey Burns, Curtis R. Coughlin, Shawn E. McCandless, Austi...> ;Molecular Genetics and Metabolism. 2021 May 7
• 16 citations
  Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.
  Barbara K. Burton, Nicola Longo, Jerry Vockley, Dorothy K. Grange, Cary O. Harding, Celeste Decker, Mingjin Li, Kelly Lau, Orli Rosen, Kevin Larimore, Janet A. Thomas,...> ;Molecular Genetics and Metabolism. 2020 Jun 16
• 5 citations
  Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions
  Ahmed Gilani, Johan L.K. Van Hove, Janet A. Thomas, Bette K. Kleinschmidt-DeMasters> ;Pediatric and Developmental Pathology. 2020 May 1
• 12 citations
  A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences.
  Sumitra SriBhashyam, Kevin Marsh, Adrian Quartel, Haoling H. Weng, Ari Gershman, Nicola Longo, Janet A. Thomas, Roberto T. Zori> ;Molecular Genetics and Metabolism Reports. 2019 Aug 30
• 50 citations
  Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
  Nicola Longo, David Dimmock, Harvey L. Levy, Krista Viau, Heather Bausell, Deborah A. Bilder, Barbara K. Burton, Christel Gross, Hope Northrup, Fran Rohr, Stephanie Sa...> ;Genetics in Medicine. 2019 Aug 1
• "It's a hard thing to manage when you're homeless": the impact of the social environment on smoking cessation for smokers experiencing homelessness.
  Pratt, R.,Pernat, C.,Kerandi, L.,Kmiecik, A.,Strobel-Ayres, C.,Joseph, A.,Everson Rose, S. A.,Luo, X.,Cooney, N.,Thomas, J.,Okuyemi, K.> ;BMC Public Health. 2019 May 28
• 9 citations
  Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatme...
  Johan L.K. Van Hove, Cynthia Freehauf, Can Ficicioglu, Loren D.M. Pena, Kerrie L. Moreau, Thomas K. Henthorn, Uwe Christians, Hua Jiang, Tina M. Cowan, Sarah P. Young,...> ;Journal of Inherited Metabolic Disease. 2019 May 1
• 19 citations
  Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria.
  Roberto T. Zori, Janet A. Thomas, Natasha Shur, William B. Rizzo, Celeste Decker, Orli Rosen, Mingjin Li, Becky Schweighardt, Kevin Larimore, Nicola Longo> ;Molecular Genetics and Metabolism. 2018 Nov 1
• 24 citations
  Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study.
  Nicola Longo, Roberto T. Zori, Melissa Wasserstein, Jerry Vockley, Barbara K. Burton, Celeste Decker, Mingjin Li, Kelly Lau, Joy Jiang, Kevin Larimore, Janet A. Thomas> ;Orphanet Journal of Rare Diseases. 2018 Jul 4
• 100 citations
  Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)
  Janet A. Thomas, Harvey L. Levy, Stephen Amato, Jerry Vockley, Roberto T. Zori, David Dimmock, Cary O. Harding, Deborah A. Bilder, Haoling H. Weng, Joy Olbertz, Markus...> ;Molecular Genetics and Metabolism. 2018 May 1
• 1 citations
  Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.
  Sally P. Stabler, Cynthia Freehauf, Robert H. Allen, Janet A. Thomas, Renata C. Gallagher> ;JIMD Reports. 2017 Mar 9
• 49 citations
  Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management
  Lorne A. Clarke, Andrea M. Atherton, Barbara K. Burton, Debra L. Day-Salvatore, Paige Kaplan, Nancy D. Leslie, C. Ronald Scott, David W. Stockton, Janet A. Thomas, Jos...> ;The Journal of Pediatrics. 2017 Mar 1
• 31 citations
  Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
  Yin-Hsiu Chien, Jose E. Abdenur, Federico Baronio, Allison Anne Bannick, Fernando J. Corrales, María L. Couce, Markus G. Donner, Can Ficicioglu, Cynthia Freehauf, Debo...> ;Orphanet Journal of Rare Diseases. 2015 Aug 20
• 43 citations
  Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.
  Kathryn C. Chatfield, Curtis R. Coughlin, Marisa W. Friederich, Renata C. Gallagher, Jay R. Hesselberth, Mark A. Lovell, Rob Ofman, Michael A. Swanson, Janet A. Thomas...> ;Mitochondrion. 2015 Mar 1
• 13 citations
  Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency.
  Nicholas V. Stence, Curtis R. Coughlin, Laura Z. Fenton, Janet A. Thomas> ;Pediatric Radiology. 2013 Jul 1
• 8 citations
  Impact of geographic access to care on compliance and metabolic control in phenylketonuria.
  Cynthia Freehauf, Johan L.K. Van Hove, Dexiang Gao, Laurie Bernstein, Janet A. Thomas> ;Molecular Genetics and Metabolism. 2013 Jan 1
• Smoking characteristics and comorbidities in the power to quit randomized clinical trial for homeless smokers.
  Okuyemi, K. S.,Goldade, K.,Whembolua, G. L.,Thomas, J. L.,Eischen, S.,Guo, H.,Connett, J. E.,Grant, J.,Ahluwalia, J. S.,Resnicow, K.,Owen, G.,Gelberg, L.,Jarlais, D. D.> ;Nicotine Tob Res. 2013 Jan
• 9 citations
  Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients
  Patricia Gordon, Janet A. Thomas, Ruth Suter, Elaina Jurecki> ;Molecular Genetics and Metabolism. 2012 Apr 1
• 24 citations
  Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria.
  Amy K. Keating, Cynthia Freehauf, Hua Jiang, Gary Brodsky, Sally P. Stabler, Robert H. Allen, Douglas K. Graham, Janet A. Thomas, Johan L.K. Van Hove, Kenneth N. Maclean> ;Molecular Genetics and Metabolism. 2011 Aug 1
• 8 citations
  Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-term Follow-up Study: a collaborative multi-site approach to newborn screenin...
  Erica L. Wright, Johan L.K. Van Hove, Janet A. Thomas> ;Genetics in Medicine. 2010 Dec 1
• 54 citations
  Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.
  Johan L.K. Van Hove, Margarita Saenz, Janet A. Thomas, Renata C. Gallagher, Mark A. Lovell, Laura Z. Fenton, S. Shanske, Sommer M Myers, Ronald J.A. Wanders, Jos P.N. ...> ;Pediatric Research. 2010 Aug 1
• 42 citations
  Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I
  Janet A. Thomas, Michael Beck, Joe T.R. Clarke, Gerald F. Cox> ;Journal of Inherited Metabolic Disease. 2010 Jun 2
• 23 citations
  Management of a patient with holocarboxylase synthetase deficiency.
  Johan L.K. Van Hove, Sagi Josefsberg, Cynthia Freehauf, Janet A. Thomas, Le Phuc Thuy, Bruce A. Barshop, Michael Woontner, Donald M. Mock, Pei Wen Chiang, Elaine B. Sp...> ;Molecular Genetics and Metabolism. 2008 Dec 1
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