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

PLoS genetics, 2020-12, Vol.16 (12), p.e1009258-e1009258

2020

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

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2014-01, Vol.944, p.166-174

2014

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Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation

The Journal of pediatrics, 2015-06, Vol.166 (6), p.1455-1461.e1

2015

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

Journal of clinical medicine, 2017-05, Vol.6 (5), p.50

2017

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

Nature communications, 2023-01, Vol.14 (1), p.512-512, Article 512

2023

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AMP-independent activator of AMPK for treatment of mitochondrial disorders

PloS one, 2020-10, Vol.15 (10), p.e0240517-e0240517

2020

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

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2013-06, Vol.929, p.51-55

2013

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Reducing False-Positive Results in Newborn Screening Using Machine Learning

International journal of neonatal screening, 2020-03, Vol.6 (1), p.16

2020

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Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status

PloS one, 2014-06, Vol.9 (6), p.e100001-e100001

2014

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

The Journal of pediatrics, 2017-02, Vol.181, p.80-85.e1

2017

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Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance

Frontiers in pediatrics, 2021-01, Vol.8, p.623184-623184

2021

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

Frontiers in microbiology, 2023-03, Vol.13, p.1059289-1059289

2023

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

Molecular genetics and metabolism, 2019-01, Vol.126 (1), p.39-42

2019

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

Proceedings of the National Academy of Sciences - PNAS, 2009-03, Vol.106 (10), p.3941-3945

2009

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

Nature (London), 2017-11, Vol.551 (7682), p.648-652

2017

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

Molecular genetics and metabolism, 2021-09, Vol.134 (1-2), p.43-52

2021

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Mapping gene associations in human mitochondria using clinical disease phenotypes

PLoS computational biology, 2009-04, Vol.5 (4), p.e1000374-e1000374

2009

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Nasopharyngeal metabolomics and machine learning approach for the diagnosis of influenza

EBioMedicine, 2021-09, Vol.71, p.103546-103546, Article 103546

2021

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

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2020-04, Vol.1143, p.122072-122072, Article 122072

2020

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

Cancer cell, 2018-01, Vol.33 (1), p.91-107.e6

2018

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Acylcarnitine profile analysis

Genetics in medicine, 2008-02, Vol.10 (2), p.151-156

2008

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

Pediatric transplantation, 2013-03, Vol.17 (2), p.158-167

2013

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

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.194-205

2023

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

Methods in molecular biology (Clifton, N.J.), 2019, Vol.2030, p.85

2019

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

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

Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation

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

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

AMP-independent activator of AMPK for treatment of mitochondrial disorders

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

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

Reducing False-Positive Results in Newborn Screening Using Machine Learning

Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status

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

Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance

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

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

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

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

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

Mapping gene associations in human mitochondria using clinical disease phenotypes

Nasopharyngeal metabolomics and machine learning approach for the diagnosis of influenza

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

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

Acylcarnitine profile analysis

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

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

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

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