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Promises and pitfalls of untargeted metabolomics

Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.355-366

2018

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Metabolomics Reveals Signature of Mitochondrial Dysfunction in Diabetic Kidney Disease

Journal of the American Society of Nephrology, 2013-11, Vol.24 (11), p.1901-1912

2013

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Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes

PloS one, 2020-06, Vol.15 (6), p.e0234970-e0234970

2020

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Agalsidase Alfa and Kidney Dysfunction in Fabry Disease

Journal of the American Society of Nephrology, 2009-05, Vol.20 (5), p.1132-1139

2009

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Validation of a dual LC–HRMS platform for clinical metabolic diagnosis in serum, bridging quantitative analysis and untargeted metabolomics

Metabolomics, 2014-04, Vol.10 (2), p.312-323

2014

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Metabolomics Identifies Perturbations in Human Disorders of Propionate Metabolism

Clinical chemistry (Baltimore, Md.), 2007-12, Vol.53 (12), p.2169-2176

2007

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Multiple organic anion transporters contribute to net renal excretion of uric acid

Physiological genomics, 2008-04, Vol.33 (2), p.180-192

2008

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Atlas of Inherited Metabolic Diseases

Fourth edition, 2020

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A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Orphanet journal of rare diseases, 2017-08, Vol.12 (1), p.144-144, Article 144

2017

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Decreased Renal Organic Anion Secretion and Plasma Accumulation of Endogenous Organic Anions in OAT1 Knock-out Mice

The Journal of biological chemistry, 2006-02, Vol.281 (8), p.5072-5083

2006

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Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening

Molecular genetics and metabolism, 2014-04, Vol.111 (4), p.484-492

2014

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A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder

European journal of medical genetics, 2020-04, Vol.63 (4), p.103822-103822, Article 103822

2020

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Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency

Molecular genetics and metabolism, 2013-06, Vol.109 (2), p.215-217

2013

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Twice-Daily Cysteamine Bitartrate Therapy for Children with Cystinosis

The Journal of pediatrics, 2010, Vol.156 (1), p.71-75.e3

2010

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Organic Anion Transporter 3 Contributes to the Regulation of Blood Pressure

Journal of the American Society of Nephrology, 2008-09, Vol.19 (9), p.1732-1740

2008

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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

JIMD reports, 2020-03, Vol.52 (1), p.3-10

2020

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Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease

Clinica chimica acta, 2019-12, Vol.499, p.13-15

2019

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Domino liver transplantation in maple syrup urine disease

Liver transplantation, 2006-05, Vol.12 (5), p.876-882

2006

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Domino Hepatic Transplantation in Maple Syrup Urine Disease

The New England journal of medicine, 2005-12, Vol.353 (22), p.2410-2411

2005

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Long-Term Treatment of Cystinosis in Children with Twice-Daily Cysteamine

The Journal of pediatrics, 2010-05, Vol.156 (5), p.823-827

2010

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In memoriam: Jerry Allan Schneider, 1937–2021

Molecular genetics and metabolism, 2022-07, Vol.136 (3), p.163-163

2022

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Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

Journal of medical genetics, 2024-06, Vol.61 (6), p.520

2024

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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Nature genetics, 2018-08, Vol.50 (8), p.1093-1101

2018

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Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome

Molecular genetics and metabolism, 2015-03, Vol.114 (3), p.431-437

2015

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Dairy Fat Intake, Plasma Pentadecanoic Acid, and Plasma Iso‐heptadecanoic Acid Are Inversely Associated With Liver Fat in Children

Journal of pediatric gastroenterology and nutrition, 2021-04, Vol.72 (4), p.e90-e96

2021

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Promises and pitfalls of untargeted metabolomics

Metabolomics Reveals Signature of Mitochondrial Dysfunction in Diabetic Kidney Disease

Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes

Agalsidase Alfa and Kidney Dysfunction in Fabry Disease

Validation of a dual LC–HRMS platform for clinical metabolic diagnosis in serum, bridging quantitative analysis and untargeted metabolomics

Metabolomics Identifies Perturbations in Human Disorders of Propionate Metabolism

Multiple organic anion transporters contribute to net renal excretion of uric acid

Atlas of Inherited Metabolic Diseases

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Decreased Renal Organic Anion Secretion and Plasma Accumulation of Endogenous Organic Anions in OAT1 Knock-out Mice

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening

A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency

Twice-Daily Cysteamine Bitartrate Therapy for Children with Cystinosis

Organic Anion Transporter 3 Contributes to the Regulation of Blood Pressure

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease

Domino liver transplantation in maple syrup urine disease

Domino Hepatic Transplantation in Maple Syrup Urine Disease

Long-Term Treatment of Cystinosis in Children with Twice-Daily Cysteamine

In memoriam: Jerry Allan Schneider, 1937–2021

Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome

Dairy Fat Intake, Plasma Pentadecanoic Acid, and Plasma Iso‐heptadecanoic Acid Are Inversely Associated With Liver Fat in Children

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