Melissa Lah
Biochemistry, Genetics and Molecular Biology · Indiana University
Publications
59
Citations
301
Est. group size
—
Recurring co-author estimate
Active years
12
Publishing since 2015
Melissa Lah studies inherited metabolic disorders, focusing on how genetic conditions that affect the body's chemistry can be diagnosed and treated. Much of the work involves clinical trials of therapies for phenylketonuria (PKU), a disorder in which the body cannot properly process the amino acid phenylalanine, along with related rare conditions like homocystinuria and Prader-Willi syndrome. The research spans testing new drugs and enzyme therapies as well as best-practice management guidelines for patients.
Publication activity has grown notably over the last decade, rising from around one to a few papers per year in the late 2010s to roughly nine per year in the most recent five years.
Generated by claude-opus-4-8 from public bibliographic data · Jul 11, 2026
- Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study
Genetics in Medicine · 2026
- Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi‐Site Study
JIMD Reports · 2026
- Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach
Molecular Genetics and Metabolism · 2026
- O09: Sepiapterin responsiveness over 14 days in children and adults with phenylketonuria: Pooled results from three phase 3 clinical trials
Genetics in Medicine Open · 2026
- Diazoxide Choline Extended-release Tablets in Prader-Willi Syndrome: A Randomized, Double-blind, Withdrawal Period Study
The Journal of Clinical Endocrinology & Metabolism · 2025
- Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial
Journal of Comparative Effectiveness Research · 2025
- OR35-07 The Glycemic Outcomes of Diazoxide Choline Extended-Release (DCCR) Tablets for Administered for Hyperphagia in Individuals with Prader-Willi Syndrome Over 4 Years
Journal of the Endocrine Society · 2025
- P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria
Genetics in Medicine Open · 2025
- P045: The assessment of the treatment and management landscape of phenylketonuria survey study: Findings from 19 clinics in the United States
Genetics in Medicine Open · 2025
- P015: Clinical characterization of classical homocystinuria due to cystathionine-beta synthase deficiency: Results from the ACAPPELLA study
Genetics in Medicine Open · 2025
- Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial
Genetics in Medicine · 2025
- EE509 Considerations for Health Economic Modeling in Phenylketonuria (PKU): Insights From a Modified Delphi Panel
Value in Health · 2025
- Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach
SSRN Electronic Journal · 2025
- MON-662 Characterization of Peripheral Edema in Individuals with Prader-Willi Syndrome During Long-term Administration of Diazoxide Choline Extended-Release Tablet (DCCR) Over 4.5 Years
Journal of the Endocrine Society · 2025
- EE295 Cost-Utility Analysis (CUA) of Sepiapterin for Treatment of Phenylketonuria (PKU)
Value in Health · 2025
- Molecular Genetics and Metabolism×11
- Genetics in Medicine Open×7
- Journal of the Endocrine Society×5
- Genetics in Medicine×4
- Value in Health×4
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 11, 2026.
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