"Classical organic acidurias": diagnosis and pathogenesis. (Q38950531)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27613073%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

review article

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title

"Classical organic acidurias": diagnosis and pathogenesis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27613073%20AND%20SRC:MED&resulttype=core&format=json

Guglielmo Rosario Domenico Villani

22 March 2020

author

1

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22 March 2020

Francesco Salvatore

4

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22 March 2020

author name string

Giovanna Gallo

2

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22 March 2020

Emanuela Scolamiero

3

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22 March 2020

Margherita Ruoppolo

5

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22 March 2020

publication date

9 September 2016

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Clinical and Experimental Medicine

22 March 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27613073%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

volume

17

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22 March 2020

page(s)

305-323

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22 March 2020

issue

3

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https://scigraph.springernature.com/pub.10.1007/s10238-016-0435-0

22 March 2020

exact match

0 references

cites work

Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Organic acidurias: a review. Part 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Organic acidurias: a review. Part 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Organic acidurias and related abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Mass spectrometry in the clinical laboratory

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

The specificity of glycine-N-acylase and acylglycine excretion in the organicacidaemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Maternal vitamin B12 deficiency detected in expanded newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Inborn errors of cobalamin absorption and metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Renal growth in isolated methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Targeted delivery of saporin toxin by monoclonal antibody to the transcobalamin receptor, TCblR/CD320.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Anaplerotic molecules: current and future

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Growth retardation, general hypotonia, and loss of acquired neuromotor skills in the infants of mothers with cobalamin deficiency and the possible role of succinyl-CoA and glycine in the pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Experimental evidence that methylmalonic acid provokes oxidative damage and compromises antioxidant defenses in nerve terminal and striatum of young rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Disruption of redox homeostasis and brain damage caused in vivo by methylmalonic acid and ammonia in cerebral cortex and striatum of developing rats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Methylene blue prevents methylmalonate-induced seizures and oxidative damage in rat striatum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Methylmalonate-induced seizures are attenuated in inducible nitric oxide synthase knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Chronic administration of methylmalonate on young rats alters neuroinflammatory markers and spatial memory

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

The effect of WIN 55,212-2 suggests a cannabinoid-sensitive component in the early toxicity induced by organic acids accumulating in glutaric acidemia type I and in related disorders of propionate metabolism in rat brain synaptosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

MicroRNA-9 regulates neural apoptosis in methylmalonic acidemia via targeting BCL2L11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Methylmalonic acid reduces the in vitro phosphorylation of cytoskeletal proteins in the cerebral cortex of rats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Effect of propionic and methylmalonic acids on the in vitro phosphorylation of intermediate filaments from cerebral cortex of rats during development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Proteomics of vitamin B12 processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Amino acid metabolism in patients with propionic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

On the mechanism of action of the antifungal agent propionate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Ascorbic acid prevents cognitive deficits caused by chronic administration of propionic acid to rats in the water maze

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Propionic acid induces convulsions and protein carbonylation in rats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Propionate increases neuronal histone acetylation, but is metabolized oxidatively by glia. Relevance for propionic acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Ganglioside alterations in the central nervous system of rats chronically injected with methylmalonic and propionic acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Identification of β-hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

A simple and rapid enzymatic assay for the branched-chain alpha-ketoacid dehydrogenase complex using high-performance liquid chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Creatine administration prevents Na+,K+-ATPase inhibition induced by intracerebroventricular administration of isovaleric acid in cerebral cortex of young rats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Abnormal tricarboxylic acid cycle metabolites in isovaleric acidaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Induction of oxidative stress by the metabolites accumulating in isovaleric acidemia in brain cortex of young rats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Changes in plasma and urinary amino acid levels during diabetic ketoacidosis in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Branched-chain amino acids influence the immune properties of microglial cells and their responsiveness to pro-inflammatory signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Coadministration of branched-chain amino acids and lipopolysaccharide causes matrix metalloproteinase activation and blood-brain barrier breakdown.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Predominant functional activity of the large, neutral amino acid transporter (LAT1) isoform at the cerebrovasculature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Reduction of glutamate uptake into cerebral cortex of developing rats by the branched-chain alpha-keto acids accumulating in maple syrup urine disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Pharmacological evidence that alpha-ketoisovaleric acid induces convulsions through GABAergic and glutamatergic mechanisms in rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Alpha-ketoisocaproic acid and leucine provoke mitochondrial bioenergetic dysfunction in rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Inhibition of brain energy metabolism by the alpha-keto acids accumulating in maple syrup urine disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Creatine kinase activity from rat brain is inhibited by branched-chain amino acids in vitro.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Induction of oxidative stress in rat brain by the metabolites accumulating in maple syrup urine disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Antioxidant administration prevents memory impairment in an animal model of maple syrup urine disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Chronic administration of branched-chain amino acids impairs spatial memory and increases brain-derived neurotrophic factor in a rat model

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Intracerebroventricular administration of α-ketoisocaproic acid decreases brain-derived neurotrophic factor and nerve growth factor levels in brain of young rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Oxidative stress in plasma from maple syrup urine disease patients during treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Protein and lipid damage in maple syrup urine disease patients: l-carnitine effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

L-Carnitine supplementation decreases DNA damage in treated MSUD patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Urinary biomarkers of oxidative damage in Maple syrup urine disease: the L-carnitine role.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Branched chain amino acids induce apoptosis in neural cells without mitochondrial membrane depolarization or cytochrome c release: implications for neurological impairment associated with maple syrup urine disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Alpha-keto-beta-methylvaleric acid increases the in vitro phosphorylation of intermediate filaments in cerebral cortex of young rats through the gabaergic system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Morphological alterations and cell death provoked by the branched-chain alpha-amino acids accumulating in maple syrup urine disease in astrocytes from rat cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Cytoskeleton as a potential target in the neuropathology of maple syrup urine disease: insight from animal studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Effect of the branched-chain alpha-ketoacids accumulating in maple syrup urine disease on the high molecular weight neurofilament subunit (NF-H) in rat cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

alpha-Ketoisocaproic acid regulates phosphorylation of intermediate filaments in postnatal rat cortical slices through ionotropic glutamatergic receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10238-016-0435-0

Analysis of organic acids and acylglycines for the diagnosis of related inborn errors of metabolism by GC- and HPLC-MS

21 January 2018

1 reference

12 December 2020

Neurological damage in MSUD: the role of oxidative stress.

1 reference

12 December 2020

L-carnitine Prevents Oxidative Stress in the Brains of Rats Subjected to a Chemically Induced Chronic Model of MSUD.

1 reference

12 December 2020

4-Hydroxyisovaleric acid: A new metabolite in isovaleric acidemia

1 reference

12 December 2020

Brain amino acid requirements and toxicity: the example of leucine

1 reference

12 December 2020

Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias

1 reference

12 December 2020

Effect of 2-Methylcitrate on Citrate Metabolism: Implications for the Management of Patients with Propionic acidemia and Methylmalonic aciduria

1 reference

12 December 2020

Inhibition of glutamate uptake into synaptic vesicles of rat brain by the metabolites accumulating in maple syrup urine disease

1 reference

12 December 2020

A mechanism of toxicity of isovaleric acid in rat liver mitochondria

1 reference

12 December 2020

Patients with organic acidaemias have an altered thiol status

1 reference

12 December 2020

Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table

1 reference

12 December 2020

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia

1 reference

12 December 2020

Propionic acid induces cytoskeletal alterations in cultured astrocytes from rat cerebral cortex.

1 reference

12 December 2020

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria

1 reference

12 December 2020

The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans

1 reference

12 December 2020

Capillary electrophoresis for rapid profiling of organic acidurias

1 reference

12 December 2020

Unusual presentation of propionic acidaemia as isolated cardiomyopathy

1 reference

12 December 2020

Cerebral Oedema, Blood-Brain Barrier Breakdown and the Decrease in Na(+),K(+)-ATPase Activity in the Cerebral Cortex and Hippocampus are Prevented by Dexamethasone in an Animal Model of Maple Syrup Urine Disease.

1 reference

12 December 2020

Gas-chromatographic method of analysis for urinary organic acids. I. Retention indices of 155 metabolically important compounds

1 reference

12 December 2020

Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry

1 reference

12 December 2020

Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology.

1 reference

12 December 2020

Chronic renal failure in methylmalonic acidaemia

1 reference

12 December 2020

Primary human fibroblasts from a maple syrup urine disease patient undergo apoptosis following exposure to physiological concentrations of branched chain amino acids

1 reference

12 December 2020

Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity

1 reference

12 December 2020

Methylmalonic acidemia: A megamitochondrial disorder affecting the kidney

1 reference

12 December 2020

Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic acidurias

1 reference

12 December 2020