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Author Details

Tina M Cowan
Clinical Biochemical Genetics Laboratory
1984
72
28
PMIDPaper TitleJournal TitlePublished Year
36680545Validation of a targeted metabolomics panel for improved second-tier newborn screening.J Inherit Metab Dis2023
37090939A Phase 1 Study of Oral Vitamin D<sub>3</sub> in Boys and Young Men With X-Linked Adrenoleukodystrophy.Neurol Genet2023
37063449Targeted plasma metabolomics combined with machine learning for the diagnosis of severe acute respiratory syndrome virus type 2.Front Microbiol2023
36883293MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.Am J Med Genet A2023
36720857Host-microbe co-metabolism via MCAD generates circulating metabolites including hippuric acid.Nat Commun2023
34697629GlcNAc-Asn is a biomarker for NGLY1 deficiency.J Biochem2022
36252453Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances.Mol Genet Metab2022
34668327Variable clinical severity in TANGO2 deficiency: Case series and literature review.Am J Med Genet A2022
34474962Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry.Mol Genet Metab2021
33553077Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance.Front Pediatr2021
34419924Nasopharyngeal metabolomics and machine learning approach for the diagnosis of influenza.EBioMedicine2021
32190768Reducing False-Positive Results in Newborn Screening Using Machine Learning.Int J Neonatal Screen2020
33315951A conserved role for AMP-activated protein kinase in NGLY1 deficiency.PLoS Genet2020
33052980AMP-independent activator of AMPK for treatment of mitochondrial disorders.PLoS One2020
32216101Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.J Inherit Metab Dis2020
32220802Metabolic profiling by reversed-phase/ion-exchange mass spectrometry.J Chromatogr B Analyt Technol Biomed Life Sci2020
30448007Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns.Mol Genet Metab2019
30209273Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.Genet Med2019
31347112Quantitative Analysis of Underivatized Amino Acids by Liquid Chromatography-Tandem Mass Spectrometry.Methods Mol Biol2019
30873612Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.J Inherit Metab Dis2019
30626964SETD3 is an actin histidine methyltransferase that prevents primary dystocia.Nature2019
28661487CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance.Genet Med2018
33636915Rapid Underivatized Method for Quantitative Methylmalonic Acid by Liquid Chromatography-Tandem Mass Spectrometry.J Appl Lab Med2018
34457455Medical Biochemistry Without Rote Memorization: Multi-Institution Implementation and Student Perceptions of a Nationally Standardized Metabolic Map for Learning and Assessment.Med Sci Educ2018
29563254Phosphorylation of MCAD selectively rescues PINK1 deficiencies in behavior and metabolism.Mol Biol Cell2018
29396029Prenatal treatment of ornithine transcarbamylase deficiency.Mol Genet Metab2018
29478781Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Am J Hum Genet2018
29316436Oncogenic KRAS Regulates Amino Acid Homeostasis and Asparagine Biosynthesis via ATF4 and Alters Sensitivity to L-Asparaginase.Cancer Cell2018
29240078ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.Genet Med2018
27836286Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature.J Pediatr2017
28467362Glutathione as a Redox Biomarker in Mitochondrial Disease-Implications for Therapy.J Clin Med2017
29032949Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy.Mol Genet Metab2017
29168502A gut bacterial pathway metabolizes aromatic amino acids into nine circulating metabolites.Nature2017
28682309Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.Genet Med2017
26947969The antibiotic cefepime interferes with amino acid analysis by ion-exchange chromatography.Clin Chim Acta2016
27488560Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.J Inherit Metab Dis2016
25771389Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation.J Pediatr2015
24316529A rapid, sensitive method for quantitative analysis of underivatized amino acids by liquid chromatography-tandem mass spectrometry (LC-MS/MS).J Chromatogr B Analyt Technol Biomed Life Sci2014
27896081Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency.Mol Genet Metab Rep2014
24941115Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status.PLoS One2014
24651605Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.Genet Med2014
23347504Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience.Pediatr Transplant2013
23660247A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood.J Chromatogr B Analyt Technol Biomed Life Sci2013
23430499β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.JIMD Rep2013
22005781An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1.J Inherit Metab Dis2012
22698809Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.Mol Genet Metab2012
21444739Commentary.Clin Chem2011
22132097A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.PLoS One2011
21325602The role of vanin-1 and oxidative stress-related pathways in distinguishing acute and chronic pediatric ITP.Blood2011
20539236Technical standards and guidelines for the diagnosis of biotinidase deficiency.Genet Med2010
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Collaborators

Gregory M Enns
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Co-authored papers 27
Hongyu Zhao
Yale University
Co-authored papers 6
Jonathan A Bernstein
Stanford University
Co-authored papers 6
Tony Kwan
Co-authored papers 4
Marisa W Friederich
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Co-authored papers 2
Michael Snyder
Stanford University
Co-authored papers 2
Ronald W Davis
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Co-authored papers 2
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Co-authored papers 2
Michael A Fischbach
Stanford University
Co-authored papers 2
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Co-authored papers 2
Liliana Fernandez
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Co-authored papers 2
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Stanford University
Co-authored papers 2
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Institute of Neuroscience, Newcastle University
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Paracelsus Medical University
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Julie Hall
Royal Victoria Infirmary, The Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 1
Emmanuelle Waubant
University of California san francisco
Co-authored papers 1
Jean M Davidson
Stanford University School of Medicine
Co-authored papers 1
Jose G Vilches-Moure
Co-authored papers 1
David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
Co-authored papers 1
Davide Ruggero
University of California San Francisco
Co-authored papers 1
Erika M Zink
Pacific Northwest National Laboratory
Co-authored papers 1
Christopher Lee-Messer
Stanford University School of Medicine
Co-authored papers 1
Charu Deshpande
Guy's Hospital
Co-authored papers 1
E Alejandro Sweet-Cordero
University of California San Francisco
Co-authored papers 1
Kelly G Stratton
Pacific Northwest National Laboratory
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Release 1.2