A compendium of inborn errors of metabolism mapped onto the human metabolic network (Q42653560)

4 November 2017

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

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4 November 2017

Ines Thiele

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author name string

Swagatika Sahoo

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1

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4 November 2017

Leifur Franzson

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2

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4 November 2017

Jon J Jonsson

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3

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4 November 2017

language of work or name

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1 October 2012

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4 November 2017

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4 November 2017

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4 November 2017

2545-2558

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4 November 2017

10

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Inherited metabolic rare disease

4 November 2017

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

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

21 January 2018

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A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing

21 January 2018

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

21 January 2018

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Newborn screening of inborn errors of metabolism by capillary electrophoresis-electrospray ionization-mass spectrometry: a second-tier method with improved specificity and sensitivity

21 January 2018

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

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Fatty acid oxidation disorders: maternal health and neonatal outcomes

21 January 2018

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

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Applications of genome-scale metabolic reconstructions

21 January 2018

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Global reconstruction of the human metabolic network based on genomic and bibliomic data

21 January 2018

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

21 January 2018

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Quantitative measurement of plasma 3-hydroxyisovaleryl carnitine by LC-MS/MS as a novel biomarker of biotin status in humans

21 January 2018

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3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family

21 January 2018

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

21 January 2018

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

21 January 2018

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Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation

21 January 2018

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Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency

21 January 2018

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

21 January 2018

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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

21 January 2018

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Molecular enzymology of carnitine transfer and transport

21 January 2018

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The peroxisomal ABC transporter family

21 January 2018

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

21 January 2018

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Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome

21 January 2018

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ACBP knockdown leads to down-regulation of genes encoding rate-limiting enzymes in cholesterol and fatty acid metabolism

21 January 2018

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Lipid metabolism in peroxisomes: enzymology, functions and dysfunctions of the fatty acid alpha- and beta-oxidation systems in humans

21 January 2018

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Peroxisomes, lipid metabolism and lipotoxicity.

21 January 2018

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Characterization of PECI, a novel monofunctional Delta(3), Delta(2)-enoyl-CoA isomerase of mammalian peroxisomes

21 January 2018

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Metabolism of saturated and polyunsaturated very-long-chain fatty acids in fibroblasts from patients with defects in peroxisomal beta-oxidation

21 January 2018

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Mouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophy

21 January 2018

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Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids.

21 January 2018

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Evidence for two enzymatic pathways for omega-oxidation of docosanoic acid in rat liver microsomes

21 January 2018

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

21 January 2018

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

21 January 2018

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Reconstruction annotation jamborees: a community approach to systems biology

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Metabolic manipulation of glycosylation disorders in humans and animal models

21 January 2018

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Contribution of Mendelian disorders to common chronic disease: opportunities for recognition, intervention, and prevention

21 January 2018

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Modifier genes in mice and humans

21 January 2018

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Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias.

21 January 2018

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Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy.

21 January 2018

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Diffusion-weighted imaging in acute bacterial meningitis in infancy

21 January 2018

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

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

21 January 2018

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Acylcarnitines: role in brain.

21 January 2018

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21 January 2018

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VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis

21 January 2018

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The management and outcome of propionic and methylmalonic acidaemia

21 January 2018

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Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease

21 January 2018

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Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.

21 January 2018

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Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy

21 January 2018

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Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

21 January 2018

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The implications of human metabolic network topology for disease comorbidity

21 January 2018

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Expression of yeast INM1 encoding inositol monophosphatase is regulated by inositol, carbon source and growth stage and is decreased by lithium and valproate

21 January 2018

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What is flux balance analysis?

21 January 2018

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Identification of potential pathway mediation targets in Toll-like receptor signaling

21 January 2018

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The JAK-STAT signaling network in the human B-cell: an extreme signaling pathway analysis

21 January 2018

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A computational framework for the topological analysis and targeted disruption of signal transduction networks.

21 January 2018

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Functional characterization of alternate optimal solutions of Escherichia coli's transcriptional and translational machinery

21 January 2018

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Genome-scale reconstruction of Escherichia coli's transcriptional and translational machinery: a knowledge base, its mathematical formulation, and its functional characterization

21 January 2018

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Functional states of the genome-scale Escherichia coli transcriptional regulatory system

21 January 2018

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Matrix formalism to describe functional states of transcriptional regulatory systems

21 January 2018

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A genome-wide perspective of genetic variation in human metabolism

21 January 2018

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

21 January 2018

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The systems biology markup language (SBML): a medium for representation and exchange of biochemical network models

21 January 2018

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

21 January 2018

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

21 January 2018

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

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

21 January 2018

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Quantitative assignment of reaction directionality in a multicompartmental human metabolic reconstruction.

21 January 2018

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KEGG Atlas mapping for global analysis of metabolic pathways

21 January 2018

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Genome-scale models of microbial cells: evaluating the consequences of constraints

21 January 2018

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Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle

21 January 2018

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Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency

21 January 2018

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

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Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia

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Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

21 January 2018

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

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Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis

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KEGG for linking genomes to life and the environment

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21 January 2018

Identifiers

DOI

10.1039/C2MB25075F

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4 November 2017

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