Roy W A Peake

Boston Children's Hospital — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

14h-index658citations76works1.02yr avg
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Research Topics

Metabolism and Genetic Disorders(33), Metabolomics and Mass Spectrometry Studies(11), Mitochondrial Function and Pathology(10), Lysosomal Storage Disorders Research(10), Amino Acid Enzymes and Metabolism(7)

Publications76 total

B-237 A microsampled dried urine testing strategy for amino acid transport disorders
Clinical Chemistry·2025Open Access
Diagnostic Odyssey in a Child with Red-Colored Urine and Proteinuria
Clinical Chemistry·2025
<scp>ME2</scp> Deficiency Is Associated With Recessive Neurodevelopmental Disorder
Clinical Genetics·2024· 3 cited
Untargeted Metabolomics for Inborn Errors of Metabolism: Development and Evaluation of a Sustainable Reference Material for Correcting Inter-Batch Variability
Clinical Chemistry·2024· 2 citedOpen Access
A-316 A quantitative gas chromatography tandem mass spectrometry method for metabolic profiling of urine organic acids and acylglycines
Clinical Chemistry·2024· 1 citedOpen Access
A rare and underestimated cause of anion gap metabolic acidosis in a pediatric patient
American Journal of Clinical Pathology·2024· 1 citedOpen Access
B-156 Extraction strategy for therapeutic drug monitoring of sirolimus and tacrolimus using volumetric absorptive microsampling
Clinical Chemistry·2024
A-317 Development of a patient-focused volumetric absorptive microsampling strategy to assess urinary amino acid excretion
Clinical Chemistry·2024· 1 cited
Turbulent Flow Liquid Chromatography-Tandem Mass Spectrometry Methods for Antiepileptic Drug Quantitation in Serum
Methods in molecular biology·2023
A-049 Inter-assay Variation of Insulin-like Growth Factor-1 Remains an Issue
Clinical Chemistry·2023Open Access
B-201 Development of a Quantitative Gas Chromatography Tandem Mass Spectrometry Method for Metabolic Profiling of Urine Organic Acids
Clinical Chemistry·2023· 1 citedOpen Access
Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease
Metabolomics·2023· 6 cited
Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses
Clinica Chimica Acta·2023· 8 cited
P001: Single center experience with the Massachusetts State Newborn Screening Pilot Program for mucopolysaccharidosis type I, Pompe disease and X-linked adrenoleukodystrophy
Genetics in Medicine Open·2023Open Access
O01: Outcomes of newborn screening for mucopolysaccharidosis type I: Boston Children’s Hospital single center experience*
Genetics in Medicine Open·2023Open Access
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
Genetics in Medicine·2022· 11 citedOpen Access
Abundant Depletion
Clinical Chemistry·2022Open Access
Newborn Screening for Lysosomal Storage Diseases
2022
The Boston Children's Hospital (BCH) four year experience with the Massachusetts State Newborn Screening (NBS) pilot program for mucopolysaccharidosis type I (MPS I), Pompe disease, and X-linked adrenoleukodystrophy(X-ALD): Lessons learned
Molecular Genetics and Metabolism·2022
A 3-year pilot screening program for lysosomal disorders in the Latin America (LATAM) region using an integrated enzymatic and molecular approach
Molecular Genetics and Metabolism·2022
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Frequent Co-authors

Mark D. Kellogg(16), Naif A. M. Almontashiri(14), Essa Alharby(7), Olaf A. Bodamer(6), Rafael Garrett(6), Terence Law(5), Makki Almuntashri(5), Li Zha(4), Gerard T. Berry(4), Eissa Faqeih(4), Adam S. Ptolemy(4), Lance H. Rodan(3), Ghadeer Alharbi(3), Ali Alasmari(3), Adam J. Spanier(2), Bin Huang(2), Robert S. Kahn(2), Charles B. Berde(2), Manar A. Samman(2), Fowzan S. Alkuraya(2)