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

Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.934-943

2020

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

Molecular genetics and metabolism, 2022-11, Vol.137 (3), p.292-300

2022

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

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1492-1501

2023

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Phosphorylation of MCAD selectively rescues PINK1 deficiencies in behavior and metabolism

Molecular biology of the cell, 2018-05, Vol.29 (10), p.1219-1227

2018

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Technical standards and guidelines for the diagnosis of biotinidase deficiency

Genetics in medicine, 2010-07, Vol.12 (7), p.464-470

2010

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

Genetics in medicine, 2018-02, Vol.20 (2), p.282-282

2018

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

Scientific reports, 2020-04, Vol.10 (1), p.6558, Article 6558

2020

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

Molecular genetics and metabolism reports, 2014-01, Vol.1 (C), p.129-132

2014

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Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy

Molecular genetics and metabolism, 2017-12, Vol.122 (4), p.156-159

2017

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The antibiotic cefepime interferes with amino acid analysis by ion-exchange chromatography

Clinica chimica acta, 2016-05, Vol.456, p.149-150

2016

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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)

AMP-independent activator of AMPK for treatment of mitochondrial disorders

Reducing False-Positive Results in Newborn Screening Using Machine Learning

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

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

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

Mapping gene associations in human mitochondria using clinical disease phenotypes

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

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

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

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

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

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

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

Phosphorylation of MCAD selectively rescues PINK1 deficiencies in behavior and metabolism

Technical standards and guidelines for the diagnosis of biotinidase deficiency

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

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

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

Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy

The antibiotic cefepime interferes with amino acid analysis by ion-exchange chromatography

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