Janet A Thomas - Children's Hospital Colorado

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论文共 79 篇作者统计合作学者相似作者

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Feasibility of Newborn Screening for Pyridoxine-Dependent Epilepsy

Kristine Pauly,Michael Woontner,Jose E. Abdenur,Bimal P. Chaudhari,Rachel Gosselin,Kimberly A. Kripps,Janet A. Thomas,Michael F. Wempe, Sidney M. Gospe Jr,Curtis R. Coughlin Ii

MOLECULAR GENETICS AND METABOLISMno. 1 (2025)

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Safety and Efficacy of Pegtibatinase Enzyme Replacement Therapy in Adults with Classical Homocystinuria in the COMPOSE Phase 1/2 Randomized Trial

Can Ficicioglu,Janet A Thomas,Jaya Ganesh, David Kudrow, Melissa Lah, Wendy E Smith, Jalé Güner, Sharon McDermott,Sagar A Vaidya, Liz Wilkening, Harvey L Levy

Genetics in medicine official journal of the American College of Medical Geneticsno. 8 (2025): 101456-101456

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Phenylketonuria in Adults: We Know Plenty, but There is Much More to Learn

Cary O Harding,Georgianne Arnold,Gerard T Berry,Shawn E Christ,Dorothy K Grange,Elaina Jurecki,Harvey Levy,Uta Lichter-Konecki,Nicola Longo,Markey McNutt, Page Meachum,Stephanie Sacharow,Brian Shayota,Janet Thomas,Erika Vucko

The American Journal of Clinical Nutrition (2025)

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Long-Term Safety and Urea Cycle Function Following a Phase 1/2 Trial of DTX301 in Adults with Late-Onset Ornithine Transcarbamylase (OTC) Deficiency

Cary O. Harding,Tarekegn Geberhiwot,Maria Luz Couce,Nathalie Guffon,Wen-Hann Tan, Leticia Ceberio Hualde,Aneal Khan,Laura Konczal,Janet A. Thomas, Margo Sheck Breilyn,Lin Zhang,J. Lawrence Merritt,Eric Crombez

MOLECULAR THERAPYno. 4 (2024): 668-669

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P018: Phenylketonuria Families and Researchers Evaluating Evidence (PHEFREE), the NIH Rare Disease Consortium for PKU

Georgianne Arnold,Shawn Christ,Uta Lichter-Konecki,Dorothy Grange,Janet Thomas,Gerard Berry,Nicola Longo,Desiree White,Cary Harding

Genetics in Medicine Open (2024): 100895

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P012: Pegtibatinase, an Investigational Enzyme Replacement Therapy for the Treatment of Classical Homocystinuria: Latest Findings from the COMPOSE Phase 1/2 Trial

Can Ficicioglu,Jaya Ganesh, Wendy Smith,Melissa Lah, David Kudrow,Jalé Güner,Sharon McDermott, Sagar Vaidya, Liz Wilkening,Janet Thomas,Harvey Levy

Genetics in medicine open (2024): 100889-100889

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Initial Results from the Phefree Longitudinal Natural History Study: Cross-Sectional Observations in a Cohort of Individuals with Phenylalanine Hydroxylase (pah) Deficiency

Shawn E. Christ,Georgianne Arnold,Uta Lichter-Konecki,Gerard T. Berry,Dorothy K. Grange,Cary O. Harding,Elaina Jurecki,Harvey Levy,Nicola Longo,Hadley Morotti,Stephanie Sacharow,Janet Thomas,Desiree A. White

Molecular Genetics and Metabolism（2024）

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Long-Term Safety and Efficacy of DTX301 in Adults with Late-Onset Ornithine Transcarbamylase (OTC) Deficiency: A Phase 1/2 Trial

Janet Thomas,Wen-Hann Tan,Aneal Khan,Laura Konczal, Margo Sheck Breilyn, Leticia Ceberio Hualde,Marie Luz Couce,Tarekegn Geberhiwot,Nathalie Guffon,Cary Harding, Kaushik Patra,J. Lawrence Merritt,Eric Crombez

Molecular Genetics and Metabolism（2024）

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Pegtibatinase, an Investigational Enzyme Replacement Therapy, for the Treatment of Classical Homocystinuria (HCU): Design of the Harmony Phase 3 Study

J. Thomas,T. Ben-Omran,H. Levy,F. Maillot,S. vom Dahl,S. McDermott, S. Slawka,C. Ficicioglu

MOLECULAR GENETICS AND METABOLISM (2024): 26-26

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Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia

Evan Bailey, Han Phan,Ayesha Ahmad,Janet Thomas,Elizabeth G. Ames, Amanda B. Pritchard,Shane C. Quinonez,Stella Wang, Caleb Dayley, Andrew Salt, Christina Pick, Abe Durrant, Samuel Johnson,Jessie Nicodemus-Johnson,Samuel P. Dickson,Riccardo Perfetti,Suzanne B. Hendrix,Shoshana Shendelman

JOURNAL OF CLINICAL PHARMACOLOGY (2024)

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