T. Cowan

发表

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014, Genetics in Medicine.

Piero Rinaldo, T. Cowan, P. Rinaldo, 2008, Genetics in Medicine.

Metabolic profiling by reversed-phase/ion-exchange mass spectrometry.

T. Cowan, Anthony T Le, Justin Mak, 2020, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.

T. Cowan, R. Boles, M. Blitzer, 1998, The Journal of pediatrics.

Reducing False-Positive Results in Newborn Screening Using Machine Learning

Hongyu Zhao, C. Scharfe, G. Enns, 2020, International journal of neonatal screening.

Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.

G. Enns, T. Cowan, S. Goodman, 2005, Molecular genetics and metabolism.

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog

T. Mansour, T. Cowan, K. Woolard, 2020, Scientific Reports.

β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.

J. Bernstein, T. Cowan, T. Moore, 2012, JIMD reports.

AMP-independent activator of AMPK for treatment of mitochondrial disorders

G. Enns, T. Cowan, D. Vollrath, 2020, PloS one.

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

T. Cowan, B. Wolf, E. Strovel, 2017, Genetics in Medicine.

CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance

G. Palomaki, T. Cowan, M. Pasquali, 2017, Genetics in Medicine.

Management and Quality Assurance in the Biochemical Genetics Laboratory

T. Cowan, E. Strovel, Erin T. Strovel, 2008, Current protocols in human genetics.

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

T. Cowan, N. Longo, Y. Wang, 2000, Human mutation.

A phase I study of oral vitamin D3 supplementation in boys with X-linked adrenoleukodystrophy

E. Waubant, L. Steinman, G. Enns, 2022, medRxiv.

A phase I study of oral vitamin D3 in boys with X-linked adrenoleukodystrophy

Sundaram, G. Raymond, P. Barker, 2021 .

Ashkenazi Jewish Patients with Glycogenesis VllIand Their Population Frequency

T. Cowan, N. Raben, P. Plotz, 2007 .

A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood.

G. Enns, T. Cowan, A. Niemi, 2013, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Molecular characterization of a unique patient with epimerase-deficiency galactosaemia

S. Almashanu, T. Cowan, M. Blitzer, 1998, Journal of Inherited Metabolic Disease.

Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.

S. Almashanu, T. Cowan, E. Sidransky, 1998, Molecular genetics and metabolism.

OPTIMIZATION OF CAPILLARY ELECTROPHORESIS WITH LASER INDUCED FLUORESCENT (CE-LIF) DETECTION FOR THE ANALYSIS OF DOUBLE STRANDED DNA POLYMERASE CHAIN REACTION PRODUCTS FROM THE

T. Cowan, M. Blitzer, W. Highsmith, 2001 .

Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances

K. Kidd, A. Pakstis, C. Scharfe, 2022, Molecular genetics and metabolism.

Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry.

T. Cowan, Justin Mak, 2021, Molecular genetics and metabolism.

Neonatal Screening by Tandem Mass Spectrometry

T. Cowan, 2005 .

Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.

T. Cowan, I. Schrijver, F. Lorey, 2012, Molecular genetics and metabolism.

Technical standards and guidelines for the diagnosis of biotinidase deficiency

T. Cowan, M. Blitzer, B. Wolf, 2010, Genetics in Medicine.

Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia

Hongyu Zhao, P. Shen, E. Fung, 2018, Genetics in Medicine.

Rapid Underivatized Method for Quantitative Methylmalonic Acid by Liquid Chromatography-Tandem Mass Spectrometry.

T. Cowan, Anthony T Le, Justin Mak, 2018, The journal of applied laboratory medicine.

Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

C. Eng, T. Cowan, N. Raben, 1994, American journal of human genetics.

37 – Aminoacidemias and Organic Acidemias

S. Packman, G. Enns, T. Cowan, 2017 .

A rapid, sensitive method for quantitative analysis of underivatized amino acids by liquid chromatography-tandem mass spectrometry (LC-MS/MS).

T. Cowan, Kristina Cusmano-Ozog, K. Cusmano-Ozog, 2014, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

T. Cowan, B. Wolf, E. Strovel, 2017, Genetics in Medicine.

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

C. Lee-Messer, G. Enns, J. Bernstein, 2009, The Journal of pediatrics.

Transient neonatal galactosaemia identified by newborn screening

L. Raffel, T. Cowan, M. Blitzer, 1993, Journal of Inherited Metabolic Disease.

Liver transplantation for urea cycle disorders in pediatric patients: A single‐center experience

G. Enns, T. Cowan, C. Esquivel, 2013, Pediatric transplantation.

Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies.

T. Cowan, M. Blitzer, C. Greene, 1993, American journal of medical genetics.

Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

G. Enns, T. Cowan, L. Herzenberg, 2009, Proceedings of the National Academy of Sciences.

Prenatal treatment of ornithine transcarbamylase deficiency.

S. Hintz, D. Lyell, L. Hudgins, 2018, Molecular genetics and metabolism.

A gut bacterial pathway metabolizes aromatic amino acids into nine circulating metabolites

G. Nolan, M. Fischbach, J. Sonnenburg, 2017, Nature.

Oncogenic KRAS Regulates Amino Acid Homeostasis and Asparagine Biosynthesis via ATF4 and Alters Sensitivity to L-Asparaginase.

T. Cowan, D. Ruggero, E. A. Sweet-Cordero, 2018, Cancer cell.

Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes

Henry Horng-Shing Lu, Ronald W. Davis, Gregory M. Enns, 2009, PLoS Comput. Biol..

Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.

S. Almashanu, T. Cowan, B. Quimby, 1997, American journal of human genetics.

Erythrocyte uridine diphosphate galactose-4- epimerase deficiency identified by newborn screening for galactosemia in the United States

T. Cowan, H. Bock, M. Blitzer, 1993 .

The role of vanin-1 and oxidative stress-related pathways in distinguishing acute and chronic pediatric ITP.

J. Zehnder, E. Engleman, T. Cowan, 2011, Blood.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Variable clinical severity in TANGO2 deficiency: Case series and literature review

M. Wheeler, G. Enns, T. Cowan, 2021, American journal of medical genetics. Part A.

Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation.

G. Enns, T. Cowan, C. Esquivel, 2015, The Journal of pediatrics.

Glutathione as a Redox Biomarker in Mitochondrial Disease—Implications for Therapy

G. Enns, T. Cowan, 2017, Journal of clinical medicine.

Degree of Glutathione Deficiency and Redox Imbalance Depend on Subtype of Mitochondrial Disease and Clinical Status

G. Enns, T. Cowan, A. Niemi, 2014, PloS one.

Host-microbe co-metabolism via MCAD generates circulating metabolites including hippuric acid

William W. Van Treuren, M. Fischbach, J. Sonnenburg, 2023, Nature Communications.

Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes

Hongyu Zhao, C. Scharfe, G. Enns, 2020, Journal of inherited metabolic disease.

Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns

Hongyu Zhao, C. Scharfe, G. Enns, 2018, Molecular genetics and metabolism.

An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1

T. Cowan, Anthony T Le, T. Moore, 2012, Journal of Inherited Metabolic Disease.

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.

T. Cowan, P. Rinaldo, D. Matern, 2005, Molecular genetics and metabolism.

Medical Biochemistry Without Rote Memorization: Multi-Institution Implementation and Student Perceptions of a Nationally Standardized Metabolic Map for Learning and Assessment

Kathryn H. Thompson, T. Cowan, J. Lindsley, 2018, Medical Science Educator.

Nasopharyngeal metabolomics and machine learning approach for the diagnosis of influenza

Nick A. Phillips, Pranav Rajpurkar, Hari Sowrirajan, 2021, EBioMedicine.

Biomarkers 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

U. Christians, K. Moreau, L. Pyle, 2019, Journal of inherited metabolic disease.

Mutational and pharmacological alterations of neuronal membrane function disrupt conditioning in Drosophila.

R. W. Siegel, T. Cowan, 1984, Journal of neurogenetics.

Phosphorylation of MCAD selectively rescues PINK1 deficiencies in behavior and metabolism

Xinnan Wang, T. Cowan, Dominic Winter, 2018, Molecular biology of the cell.

A conserved role for AMP-activated protein kinase in NGLY1 deficiency

T. Cowan, A. Galeone, A. Pandey, 2020, PLoS genetics.

GlcNAc-Asn is a biomarker for NGLY1 deficiency

T. Cowan, William F. Mueller, Justin Mak, 2021, Journal of biochemistry.

Drosophila mutations that alter ionic conduction disrupt acquisition and retention of a conditioned odor avoidance response.

R. W. Siegel, T. Cowan, 1986, Journal of neurogenetics.

Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance

Hongyu Zhao, C. Scharfe, T. Cowan, 2021, Frontiers in Pediatrics.

82 COBALAMIN C DISEASE AND EXPANDED NEWBORN SCREENING: THE CALIFORNIA EXPERIENCE.

S. Packman, G. Enns, T. Cowan, 2007 .

Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature

G. Shaw, C. Scharfe, D. Stevenson, 2017, The Journal of pediatrics.

A Phase 1 Study of Oral Vitamin D3 in Boys and Young Men With X-Linked Adrenoleukodystrophy

G. Raymond, P. Barker, A. Fatemi, 2023, Neurology: Genetics.

Mutations in NGLY 1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation ( ERAD ) Pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014 .

MT‐ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype

Jeremy D. Woods, G. Enns, T. Cowan, 2023, American journal of medical genetics. Part A.

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine

Lauren A. Destino, G. Enns, T. Cowan, 2016, Journal of Inherited Metabolic Disease.

Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency

G. Enns, T. Cowan, A. Niemi, 2014, Molecular genetics and metabolism reports.

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog

T. Mansour, T. Cowan, K. Woolard, 2020, Scientific Reports.

SETD3 is an Actin Histidine Methyltransferase that Prevents Primary Dystocia

Joshua E. Elias, J. Spudich, J. Carette, 2018, Nature.

Validation of a targeted metabolomics panel for improved second‐tier newborn screening

C. Scharfe, G. Enns, T. Cowan, 2023, Journal of inherited metabolic disease.

SETD3 is an Actin Histidine Methyltransferase that Prevents Primary Dystocia

Joshua E. Elias, Xiaodong Cheng, J. Spudich, 2018, Nature.

Targeted plasma metabolomics combined with machine learning for the diagnosis of severe acute respiratory syndrome virus type 2

Megan C. Garland, Nicholas S. Phillips, P. Rajpurkar, 2023, Frontiers in Microbiology.

Quantitative Analysis of Underivatized Amino Acids by Liquid Chromatography-Tandem Mass Spectrometry.

T. Cowan, Anthony T Le, Justin Mak, 2019, Methods in molecular biology.

Acylcarnitine profile analysis

T. Cowan, P. Rinaldo, D. Matern, 2008, Genetics in Medicine.

Revised Sections F7.5 (Quantitative Amino Acid Analysis) and F7.6 (Qualitative Amino Acid Analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003

W. Gahl, T. Cowan, P. Rinaldo, 2004, Genetics in Medicine.