Janet Thomas, MD

Professional Titles

• Director, Inherited Metabolic Diseases Clinic

Publications

• Stence NV, Coughlin CR 2nd, Fenton LZ, Thomas JA. Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. Pediatr Radiol. 2012 Dec 19. [Epub ahead of print] PubMed PMID: 23250031
• Freehauf C, VanHove JLK, Gao D, Bernstein LE, Thomas JA. Impact of geographic access to care on compliance and metabolic control in phenylketonuria. Molecular Genetics and Medicine 108;13-17.
• Thomas JA, Greene CL, Berry GT. Lysosomal Storage, Peroxisomal, and Glycosylation Disorders and Smith-Lemli-Opitz Syndrome Presenting in the Newborn. In Avery’s Diseases of the Newborn, 9th edition, Taeusch, HW & Ballard, RA editors. W.B. Saunders Co., (submitted).
• Thomas JA and VanHove JLK. Inborn Errors of Metabolism. In Current Diagnosis and Treatment: Pediatrics, 21th edition, Hay W, Levin M, Sondheimer J, and Deterding R editors. McGraw-Hill Companies, Inc., 2012, 1062-1087.
• VanHove JLK and Thomas JA. Disorders of GABA, Glycine, Serine, and Proline. In Physician’s Guide to the Diagnosis, Treatment, and Follow-up of Metabolic Diseases, 3rd edition, Blau N, Duran M, Gibson KM, and Dionisi-Vici C editors. Springer-Verlag (submitted).
• Stence NV, Coughlin CR 2nd, Fenton LZ, Thomas JA. Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. Pediatr Radiol. 2013 Jul;43(7):882-5. PubMed PMID: 23250031
• Freehauf C, Van Hove JL, Gao D, Bernstein L, Thomas JA. Impact of geographic access to care on compliance and metabolic control in phenylketonuria. Mol Genet Metab. 2013 Jan;108(1):13-7. PubMed PMID: 23177662
• Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015 Jan 6;21C:1-10. [Epub ahead of print] PubMed PMID: 25575635
• Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet J Rare Dis. 2015 Aug 20;10:99. PubMed PMID: 26289392
• Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015 Mar;21:1-10. PubMed PMID: 25575635
• Clarke LA, Atherton AM, Burton BK, Day-Salvatore DL, Kaplan P, Leslie ND, Scott CR, Stockton DW, Thomas JA, Muenzer J. Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management. J Pediatr. 2016 Dec 7. [Epub ahead of print] PubMed PMID: 27939258
• Stabler SP, Freehauf C, Allen RH, Thomas J, Gallagher R (2016). Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-synthase Deficiency During Pregnancy. JIMD Report (accepted).
• Wortmann SB, Chen M, Colombo R, et al (2016). Mild Orotic Aciduria in UMPS Heterozygotes: a Metabolic Finding without Clinical Consequences. Journal of Inherited Metabolic Disease (accepted).
• Thomas JA, Lam, C, Berry GT. Lysosomal Storage, Peroxisomal, and Glycosylation Disorders and Smith-Lemli-Opitz Syndrome Presenting in the Newborn. In Avery’s Diseases of the Newborn, 10th edition, Taeusch, HW & Ballard, RA editors. W.B. Saunders Co., submitted.
• Clarke LA, Atherton AM, Burton BK, Day-Salvatore DL, Kaplan P, Leslie ND, Scott CR, Stockton DW, Thomas JA, Muenzer J. Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management. J Pediatr. 2017 Mar;182:363-370. PubMed PMID: 27939258
• Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grunewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. J Inherit Metab Dis. 2017 May;40(3):423-431. PubMed PMID: 28205048
• Stabler SP, Freehauf C, Allen RH, Thomas J, Gallagher R. Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy. JIMD Rep. 2017 Mar 9. [Epub ahead of print] PubMed PMID: 28275971
• Creel LM, Thomas JA, Homan S, Thompson B, Marilyn B, Hassell KL, Thomas T, Kaye CI. (2017). Integrating Parents of Children with Special Health Care Needs into the Pediatric Medical Home. Journal of Family Medicine and Community Health 4(4):1114.
• Thomas JA, Nguyen-Driver M, Bausell H, Breck J, Zambrano J, Birardi V (2017). Strategies for Successful Long Term Engagement of Adults with Phenylalanine Hydroxylase Deficiency Returning to the Clinic. Journal of Inborn Errors of Metabolism and Screening, 5:1-9.
• Thomas JA, Lam C, Berry GT. Lysosomal Storage, Peroxisomal, and Glycosylation Disorders and Smith-Lemli-Opitz Syndrome Presenting in the Newborn. In Avery’s Diseases of the Newborn, 10th edition, Taeusch, HW & Ballard, RA editors. W.B. Saunders Co., 2017 (submitted).
• Thomas JA, VanHove JLK, Baker P. Inborn Errors of Metabolism. In Current Diagnosis and Treatment: Pediatrics, 24th edition, Hay W, Levin M, Sondheimer J, and Deterding R editors. McGraw-Hill Companies, Inc., 2017 (submitted).
• Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, Zori R, Harding CO. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genet Med. 2018 Dec 14. [Epub ahead of print] PubMed PMID: 30546086
• Zori R, Thomas JA, Shur N, Rizzo WB, Decker C, Rosen O, Li M, Schweighardt B, Larimore K, Longo N. Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria. Mol Genet Metab. 2018 Nov;125(3):217-227. PubMed PMID: 30146451
• Longo N, Zori R, Wasserstein MP, Vockley J, Burton BK, Decker C, Li M, Lau K, Jiang J, Larimore K, Thomas JA. Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study. Orphanet J Rare Dis. 2018 Jul 4;13(1):108. PubMed PMID: 29973227
• Van Hove JLK, Thomas JA, Baker PR 2nd, Larson AA. In memoriam. J Inherit Metab Dis. 2018 May 7. [Epub ahead of print] PubMed PMID: 29736632
• Thomas J, Levy H, Amato S, Vockley J, Zori R, Dimmock D, Harding CO, Bilder DA, Weng HH, Olbertz J, Merilainen M, Jiang J, Larimore K, Gupta S, Gu Z, Northrup H. Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM). Mol Genet Metab. 2018 May;124(1):27-38. PubMed PMID: 29653686
• SriBhashyam S, Marsh K, Quartel A, Weng HH, Gershman A, Longo N, Thomas J, Zori R. A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences. Mol Genet Metab Rep. 2019 Dec;21:100507. PubMed PMID: 31497506
• Van Hove JLK, Freehauf CL, Ficicioglu C, Pena LDM, Moreau KL, Henthorn TK, Christians U, Jiang H, Cowan TM, Young SP, Hite M, Friederich MW, Stabler SP, Spector EB, Kronquist KE, Thomas JA, Emmett P, Harrington MJ, Pyle L, Creadon-Swindell G, Wempe MF, MacLean KN. Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ß-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial. J Inherit Metab Dis. 2019 May;42(3):424-437. PubMed PMID: 30873612
• Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, Zori R, Harding CO. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genet Med. 2019 Aug;21(8):1851-1867. PubMed PMID: 30546086
• Van Hove JLK, Thomas JA, McCandless SE, Woontner M, Coughlin C. In Memoriam. J Inherit Metab Dis. 2020 Dec 22. [Epub ahead of print] PubMed PMID: 33354834
• Burton BK, Longo N, Vockley J, Grange DK, Harding CO, Decker C, Li M, Lau K, Rosen O, Larimore K, Thomas J. Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up. Mol Genet Metab. 2020 Aug;130(4):239-246. PubMed PMID: 32593547
• Kripps KA, Baker PR, Thomas JA, Skillman HE, Bernstein LE, Gaughan S, Burns C, Coughlin CR, McCandless SE, Larson AA, Kochhar A, Stillman C, Wymore E, Hendricks E, Woontner M. Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases. Molecular Genetics and Metabolism. Submitted.
• Thomas, JA. Homocystinuria and Cobalamin Disorders. In Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, 2nd edition. Bernstein LE, Rohr F, Helm J editors. Springer Publishing, Submitted.
• Thomas, JA. Organic Acidemias. In: Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, 2nd edition. Bernstein LE, Rohr F, Helm J editors. Springer Publishing, Submitted.
• Burton BK, Skalicky A, Baerwald C, Bilder DA, Harding CO, Ilan AB, Jurecki E, Longo N, Madden DT, Sivri HS, Wilcox G, Thomas J, Delaney K. A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials. Mol Genet Metab Rep. 2021 Dec;29:100810. PubMed PMID: 34815941
• Adams D, Andersson HC, Bausell H, Crivelly K, Eggerding C, Lah M, Lilienstein J, Lindstrom K, McNutt M, Ray JW, Saavedra H, Sacharow S, Starin D, Tiffany-Amaro J, Thomas J, Vucko E, Wessenberg LB, Whitehall K. Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics. Mol Genet Metab Rep. 2021 Sep;28:100790. PubMed PMID: 34430209
• Kripps KA, Baker PR 2nd, Thomas JA, Skillman HE, Bernstein L, Gaughan S, Burns C, Coughlin CR 2nd, McCandless SE, Larson AA, Kochar A, Stillman CF, Wymore EM, Hendricks EG, Woontner M, Van Hove JLK. REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases. Mol Genet Metab. 2021 Jul;133(3):231-241. PubMed PMID: 33985889
• Thomas JA, VanHove JLK, Baker P. Inborn Errors of Metabolism. In Current Diagnosis and Treatment: Pediatrics, 25th edition, Hay W, Levin M, Sondheimer J, and Deterding R editors. McGraw-Hill Companies, Inc., Submitted.
• Lam C and Thomas JA. Peroxisomal Disorders, Glycosylation Disorders and Smith-Lemli-Opitz Syndrome Presenting in the Newborn. In Avery’s Diseases of the Newborn, 11th edition, Taeusch, HW & Ballard, RA editors. W.B. Saunders Co, 2022.
• Thomas, JA. Organic Acidemias. In: Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, 2nd edition. Bernstein LE, Rohr F, van Calcar S editors. Springer Publishing, 2022.
• Thomas, JA. Homocystinuria and Cobalamin Disorders. In Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, 2nd edition. Bernstein LE, Rohr F, van Calcar S editors. Springer Publishing, 2022
• Thomas JA, VanHove JLK, Larson A, Baker P. Inborn Errors of Metabolism. In Current Diagnosis and Treatment: Pediatrics, 26th edition, Bunik M, Hay W, Levin M, and Abzug M editors. McGraw-Hill Companies, Inc., 2022
• Vockley J, Sondheimer N, Puurunen M, Diaz GA, Ginevic I, Grange DK, Harding C, Northrup H, Phillips JA 3rd, Searle S, Thomas JA, Zori R, Denney WS, Ernst SL, Humphreys K, McWhorter N, Kurtz C, Brennan AM. Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial. Nat Metab. 2023 Oct;5(10):1685-1690. PubMed PMID: 37770764
• van Vliet K, Dijkstra AM, Bouva MJ, van der Krogt J, Bijsterveld K, van der Sluijs F, de Sain-van der Velden MG, Koop K, Rossi A, Thomas JA, Patera CA, Kiewiet MBG, Waters PJ, Cyr D, Boelen A, van Spronsen FJ, Heiner-Fokkema MR. Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1. J Inherit Metab Dis. 2023 Nov;46(6):1104-1113. PubMed PMID: 37545091
• Harding CO, Longo N, Northrup H, Sacharow S, Singh R, Thomas J, Vockley J, Zori RT, Bulloch Whitehall K, Lilienstein J, Lindstrom K, Levy DG, Jones S, Burton BK (2023). Pegvaliase for the treatment of phenylketonuria: Final results of a long-term Phase 3 clinical trial program. Molecular Genetics and Metabolism. Submitted
• Lam C and Thomas JA. Peroxisomal Disorders, Glycosylation Disorders and Smith-Lemli-Opitz Syndrome Presenting in the Newborn. In Avery’s Diseases of the Newborn, 11th edition, Gleason, CA and Sawyer, T editors. Elsevier, 2023.
• Harding CO, Longo N, Northrup H, Sacharow S, Singh R, Thomas JA, Vockley J, Zori RT, Bulloch Whitehall K, Lilienstein J, Lindstrom K, Levy DG, Jones S, Burton BK. Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program. Mol Genet Metab Rep. 2024 Jun;39:101084. PubMed PMID: 38694233
• Flannery D, Alverson D, Greene C, Krupsinksi E, Mann S, Terry A, Thomas J, Lyon M, Singh R, Dean LW. Delivering Telegenetics Services: Review and Synthesis of Best Practices. Telemed J E Health. 2024 Aug;30(8):e2232-e2239. PubMed PMID: 38916873
• Christ SE, Arnold G, Lichter-Konecki U, Berry GT, Grange DK, Harding CO, Jurecki E, Levy H, Longo N, Morotti H, Sacharow S, Thomas J, White DA. Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108541. PubMed PMID: 39059270

Professional Memberships

• American Society of Pediatrics, Member
• American Society of Human Genetics, Member
• The Society for the Study of Inborn Errors of Metabolism, Member
• Society for Inherited Metabolic Disorders, Member

Practice Locations

UCHealth University of Colorado Hospital (UCH)
12605 E. 16th Ave
Aurora, CO 80045
720-848-0000

Children's Hospital Colorado Anschutz Medical Campus
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Hospital Affiliation

• Children's Hospital Colorado
• University of Colorado Hospital

Specialty Information

Specialties

• Pediatrics, Board Certification (1994, 2008)
• Clinical Genetics and Genomics (MD), Board Certification (1996, 2009)
• Clinical Biochemical Genetics, Board Certification (1996, 2009)

Conditions & Treatments

• Genetic Conditions and Testing