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Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome

Translational psychiatry, 2022-03, Vol.12 (1), p.97-97, Article 97

2022

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Vitamin B6 in plasma and cerebrospinal fluid of children

PloS one, 2015-03, Vol.10 (3), p.e0120972-e0120972

2015

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Metabolic Alterations in NADSYN1-Deficient Cells

Metabolites, 2023-12, Vol.13 (12), p.1196

2023

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Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

Journal of inherited metabolic disease, 2019-09, Vol.42 (5), p.730-744

2019

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Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes

Metabolites, 2024-05, Vol.14 (5), p.246

2024

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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

Metabolites, 2023-11, Vol.13 (11), p.1141

2023

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Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

JAMA neurology, 2019-03, Vol.76 (3), p.342

2019

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Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies

Journal of inherited metabolic disease, 2019-09, Vol.42 (5), p.745-761

2019

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Impact of comorbidity on complications after nephrectomy: use of the Clavien Classification of Surgical Complications

BJU international, 2012-09, Vol.110 (5), p.682-687

2012

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Metabolomics in Severe Aortic Stenosis Reveals Intermediates of Nitric Oxide Synthesis as Most Distinctive Markers

International journal of molecular sciences, 2021-03, Vol.22 (7), p.3569

2021

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Analysis of the genomic response of human prostate cancer cells to histone deacetylase inhibitors

Epigenetics, 2013-09, Vol.8 (9), p.907-920

2013

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Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts

Frontiers in endocrinology (Lausanne), 2023-08, Vol.14, p.1190473-1190473

2023

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MetaboShiny: interactive analysis and metabolite annotation of mass spectrometry-based metabolomics data

Metabolomics, 2020-09, Vol.16 (9), p.99-99, Article 99

2020

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Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm

International journal of molecular sciences, 2020-02, Vol.21 (3), p.979

2020

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Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma

Metabolites, 2019-01, Vol.9 (1), p.12

2019

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A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

JIMD reports, 2023-05, Vol.64 (3), p.217-222

2023

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A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease

EJHaem, 2024-02, Vol.5 (1), p.21-32

2024

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Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease

HemaSphere, 2024-06, Vol.8 (6), p.e109-n/a

2024

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The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma

Genes, 2018-12, Vol.10 (1), p.8

2018

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A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

Frontiers in molecular biosciences, 2023-11, Vol.10, p.1283083-1283083

2023

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Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy

Cells (Basel, Switzerland), 2021-10, Vol.10 (11), p.2950

2021

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Vitamin B-6 vitamers in human plasma and cerebrospinal fluid

The American journal of clinical nutrition, 2014-08, Vol.100 (2), p.587-592

2014

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Inborn disorders of the malate aspartate shuttle

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.792-808

2021

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Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity

HemaSphere, 2021-07, Vol.5 (7), p.e591-n/a

2021

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Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics

Metabolites, 2019-10, Vol.9 (10), p.236

2019

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Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome

Vitamin B6 in plasma and cerebrospinal fluid of children

Metabolic Alterations in NADSYN1-Deficient Cells

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies

Impact of comorbidity on complications after nephrectomy: use of the Clavien Classification of Surgical Complications

Metabolomics in Severe Aortic Stenosis Reveals Intermediates of Nitric Oxide Synthesis as Most Distinctive Markers

Analysis of the genomic response of human prostate cancer cells to histone deacetylase inhibitors

Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts

MetaboShiny: interactive analysis and metabolite annotation of mass spectrometry-based metabolomics data

Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease

Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease

The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma

A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy

Vitamin B-6 vitamers in human plasma and cerebrospinal fluid

Inborn disorders of the malate aspartate shuttle

Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity

Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics

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