A compendium of inborn errors of metabolism mapped onto the human metabolic network

Quantitative Assignment of Reaction Directionality in a Multicompartmental Human Metabolic Reconstruction

(2012) H.S. Haraldsdóttir et al.   BIOPHYSICAL JOURNAL

rBioNet: A COBRA toolbox extension for reconstructing high-quality biochemical networks

(2011) S. G. Thorleifsson et al.   BIOINFORMATICS

Metabolic Network-Based Interpretation of Gene Expression Data Elucidates Human Cellular Metabolism

(2011) Tomer Shlomi   Biotechnology & Genetic Engineering Reviews

The human metabolic reconstruction Recon 1 directs hypotheses of novel human metabolic functions

(2011) Ottar Rolfsson et al.   BMC Systems Biology

Quality improvement of newborn screening in real time

(2011) R Rodney Howell   GENETICS IN MEDICINE

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

(2011) David M S McHugh et al.   GENETICS IN MEDICINE

Quantitative prediction of cellular metabolism with constraint-based models: the COBRA Toolbox v2.0

(2011) Jan Schellenberger et al.   Nature Protocols

Quantitative Measurement of Plasma 3-Hydroxyisovaleryl Carnitine by LC-MS/MS as a Novel Biomarker of Biotin Status in Humans

(2010) Thomas D. Horvath et al.   ANALYTICAL CHEMISTRY

How to use acylcarnitine profiles to help diagnose inborn errors of metabolism

(2010) S. Santra et al.   Archives of Disease in Childhood-Education and Practice Edition

The role of metabolites and metabolomics in clinically applicable biomarkers of disease

(2010) Mamas Mamas et al.   ARCHIVES OF TOXICOLOGY

Peroxisomes, lipid metabolism and lipotoxicity

(2010) R.J.A. Wanders et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

von Bertalanffy 1.0: a COBRA toolbox extension to thermodynamically constrain metabolic models

(2010) R. M. T. Fleming et al.   BIOINFORMATICS

Functional Characterization of Alternate Optimal Solutions of Escherichia coli's Transcriptional and Translational Machinery

(2010) Ines Thiele et al.   BIOPHYSICAL JOURNAL

Band 3 multiprotein complexes in the red cell membrane; of mice and men

(2010) Emile van den Akker et al.   BLOOD CELLS MOLECULES AND DISEASES

BiGG: a Biochemical Genetic and Genomic knowledgebase of large scale metabolic reconstructions

(2010) Jan Schellenberger et al.   BMC BIOINFORMATICS

Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I

(2010) Sven W. Sauer et al.   BRAIN

ACBP Knockdown Leads to Down-regulation of Genes Encoding Rate-limiting Enzymes in Cholesterol and Fatty Acid Metabolism

(2010) Christina Vock et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Two inborn errors of metabolism in a newborn: Glutaric aciduria type I combined with isobutyrylglycinuria

(2010) Manuela Popek et al.   CLINICA CHIMICA ACTA

Maternal isovaleric acidemia: Observation of distinctive changes in plasma amino acids and carnitine profiles during pregnancy

(2010) C. Castelnovi et al.   CLINICA CHIMICA ACTA

Newborn screening conditions: What we know, what we do not know, and how we will know it

(2010) Harvey L. Levy   GENETICS IN MEDICINE

Modification of myocardial substrate utilisation: a new therapeutic paradigm in cardiovascular disease

(2010) R. M. Beadle et al.   HEART

AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases

(2010) Krzysztof Safranow et al.   JOURNAL OF APPLIED GENETICS

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

(2010) Martin Lindner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

(2010) Ronald J. A. Wanders et al.   JOURNAL OF INHERITED METABOLIC DISEASE

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria

(2010) Vassili Valayannopoulos et al.   MITOCHONDRION

Inborn Errors of Metabolism: The metabolome is our world. Presidential address for the 11th International Congress of Inborn Errors of Metabolism (ICIEM)

(2010) Edward R.B. McCabe   MOLECULAR GENETICS AND METABOLISM

Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC–MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis

(2010) Sabrina Forni et al.   MOLECULAR GENETICS AND METABOLISM

Reconstruction annotation jamborees: a community approach to systems biology

(2010) Ines Thiele et al.   Molecular Systems Biology

What is flux balance analysis?

(2010) Jeffrey D Orth et al.   NATURE BIOTECHNOLOGY

A protocol for generating a high-quality genome-scale metabolic reconstruction

(2010) Ines Thiele et al.   Nature Protocols

Metabolic manipulation of glycosylation disorders in humans and animal models

(2010) Hudson H. Freeze et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Carnitine Palmitoyltransferase 2 Deficiency: The Time-Course of Blood and Urinary Acylcarnitine Levels during Initial L-Carnitine Supplementation

(2010) Tomohiro Hori et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

Quantitative assignment of reaction directionality in constraint-based models of metabolism: Application to Escherichia coli

(2009) R.M.T. Fleming et al.   BIOPHYSICAL CHEMISTRY

3-Methylcrotonyl-CoA Carboxylase Deficiency: Phenotypic Variability in a Family

(2009) F. Tuba Eminoglu et al.   JOURNAL OF CHILD NEUROLOGY

Applications of genome-scale metabolic reconstructions

(2009) Matthew A Oberhardt et al.   Molecular Systems Biology

A genome-wide perspective of genetic variation in human metabolism

(2009) Thomas Illig et al.   NATURE GENETICS

Acylcarnitines: Role in brain

(2009) Lauren L. Jones et al.   PROGRESS IN LIPID RESEARCH

Fatty acid oxidation disorders: maternal health and neonatal outcomes

(2009) R. Scott Rector et al.   Seminars in Fetal & Neonatal Medicine

Identification of Potential Pathway Mediation Targets in Toll-like Receptor Signaling

(2009) Fan Li et al.   PLoS Computational Biology

Functional States of the Genome-Scale Escherichia Coli Transcriptional Regulatory System

(2009) Erwin P. Gianchandani et al.   PLoS Computational Biology

Genome-Scale Reconstruction of Escherichia coli's Transcriptional and Translational Machinery: A Knowledge Base, Its Mathematical Formulation, and Its Functional Characterization

(2009) Ines Thiele et al.   PLoS Computational Biology

Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis−Electrospray Ionization-Mass Spectrometry: A Second-Tier Method with Improved Specificity and Sensitivity

(2008) Kenneth R. Chalcraft et al.   ANALYTICAL CHEMISTRY

Cytochromes P450 from family 4 are the main omega hydroxylating enzymes in humans: CYP4F3B is the prominent player in PUFA metabolism

(2008) Maude Fer et al.   JOURNAL OF LIPID RESEARCH

KEGG Atlas mapping for global analysis of metabolic pathways

(2008) S. Okuda et al.   NUCLEIC ACIDS RESEARCH

Newborn screening

(2008) Bridget Wilcken et al.   PATHOLOGY

The implications of human metabolic network topology for disease comorbidity

(2008) D.- S. Lee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA