Kathryn Moseley

Keck Hospital of USC — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

22h-index1.7kcitations493works0.02yr avg
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Research Topics

Metabolism and Genetic Disorders(59), Pulmonary Hypertension Research and Treatments(22), Mitochondrial Function and Pathology(21), Diet and metabolism studies(21), Congenital Heart Disease Studies(17)

Publications493 total

The PKU Patient Registry: Development of a patient-driven registry and initial outcomes
Molecular Genetics and Metabolism·2025
The Pku Patient Registry: Development of a Patient-Driven Registry and Initial Outcomes
SSRN Electronic Journal·2025Open Access
737 Psoas muscle area may be a useful measure to predict fracture risk in people with cystic fibrosis undergoing lung transplantation
Journal of Cystic Fibrosis·2023Open Access
HYPERAMMONEMIA, CARNITINE DEFICIENCY, AND RHABDOMYOLYSIS IN UNDIAGNOSED 3-MCC PATIENT
Molecular Genetics and Metabolism·2023
ABNORMAL NEUROTRANSMITTER METABOLISM IN PHENYLKETONURIA: SIGNIFICANCE OF URINE NEUROTRANSMITTER METABOLITES
Molecular Genetics and Metabolism·2023
N-OF-1 SINGLE PATIENT OPEN TRIAL (SPOT) DETERMINES DIET INTERVENTION EFFECTIVENESS FOR SYMPTOM MANAGEMENT IN ADULT WITH CLASSICAL PKU
Molecular Genetics and Metabolism·2022
LONG-TERM PROGNOSIS IN TWO ADULT PATIENTS WITH MALONYL COENZYME A DECARBOXYLASE DEFICIENCY
Molecular Genetics and Metabolism·2022
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
UNC Libraries·2020Open Access
Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas
Journal of Pediatric Genetics·2020· 9 citedOpen Access
Can untreated PKU patients escape from intellectual disability? A systematic review
UNC Libraries·2019Open Access
PRO68 THE USE OF A PATIENT REGISTRY TO BETTER INFORM HEALTHCARE DECISION MAKERS AND IMPROVE CLINICAL OUTCOMES FOR PATIENTS WITH PHENYLKETONURIA (PKU)
Value in Health·2019
Can untreated PKU patients escape from intellectual disability? A systematic review
Orphanet Journal of Rare Diseases·2018· 60 citedOpen Access
Mitochondrial Disorders
Oxford University Press eBooks·2017· 1 cited
Detection of early end-organ damage by endothelial dysfunction with reactive hyperemia-digital peripheral arterial tonometry in patients with Fabry disease
Molecular Genetics and Metabolism·2017· 1 cited
Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters
PLoS ONE·2016· 22 citedOpen Access
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach
Molecular Genetics and Metabolism·2016· 100 cited
Pilot study to evaluate the effects of tetrahydrobiopterin on adult individuals with phenylketonuria with measurable maladaptive behaviors
CNS Spectrums·2014· 6 cited
Phenylketonuria Scientific Review Conference:State Of The Science And Future Research Needs
Zenodo (CERN European Organization for Nuclear Research)·2014Open Access
Melatonin and Dopamine as Biomarkers to Optimize Treatment in Phenylketonuria: Effects of Tryptophan and Tyrosine Supplementation
The Journal of Pediatrics·2014· 23 citedOpen Access
Phenylketonuria Scientific Review Conference: State of the science and future research needs
Molecular Genetics and Metabolism·2014· 263 cited
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Frequent Co-authors

Alexander K. C. Leung(68), Silke Hofmann(66), Leena Bruckner‐Tuderman(66), Alexander K. C. Leung(57), Thomas A. Luger(44), William Lane M. Robson(44), Markus Braun‐Falco(42), Markus Böhm(42), Alexander K. C. Leung(29), Richard Koch(28), Flemming Güttler(25), Per Guldberg(24), Sharon L. Wenger(22), Stephan DiSean Kendall(22), Gerard C. Blobe(22), Christoph K. Weber(22), David C. Whitcomb(22), Martin Wabitsch(22), Klaus‐Michael Debatin(22), Pamela Fischer Posovzsky(22)