(Q38091325)

28 August 2017

title

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

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28 August 2017

Stefan Kölker

1

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28 August 2017

Peter Burgard

series ordinal

2

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28 August 2017

Sven W Sauer

series ordinal

3

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28 August 2017

Jürgen G Okun

series ordinal

4

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28 August 2017

publication date

20 March 2013

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Journal of Inherited Metabolic Disease

28 August 2017

published in

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28 August 2017

volume

36

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28 August 2017

issue

4

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28 August 2017

page(s)

635-644

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The glutamate/GABA-glutamine cycle: aspects of transport, neurotransmitter homeostasis and ammonia transfer.

28 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

On the mechanism of action of the antifungal agent propionate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Anaplerotic molecules: current and future

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Mitochondrial dysfunction in mut methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

The oncometabolite 2-hydroxyglutarate inhibits histone lysine demethylases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

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%2FS10545-013-9600-8

Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Oligodendrocytes and ischemic brain injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Cerebral dicarboxylate transport and metabolism studied with isotopically labelled fumarate, malate and malonate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Use of guidelines improves the neurological outcome in glutaric aciduria type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Dynamic organization of mitochondria in human heart and in myocardial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

SDH5 mutations and familial paraganglioma: somewhere Warburg is smiling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Living-donor liver transplantation for propionic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

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%2FS10545-013-9600-8

Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

The aetiology of neurological complications of organic acidaemias--a role for the blood-brain barrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Diagnosis and management of glutaric aciduria type I--revised recommendations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Clinical reasoning: a young man with progressive subcortical lesions and optic nerve atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Progress in understanding 2-hydroxyglutaric acidurias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Chronic pancreatitis in branched-chain organic acidurias--a case of methylmalonic aciduria and an overview of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Liver transplantation for inborn errors of metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

The selective vulnerability of striatopallidal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Hereditary and acquired diseases of acyl-coenzyme A metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

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%2FS10545-013-9600-8

Neurocognitive phenotype of isolated methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

New aspects of the blood-brain barrier transporters; its physiological roles in the central nervous system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Clinical spectrum of succinic semialdehyde dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

21 January 2018

Sweet sixteen for ANLS.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Natural history of propionic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Isocitrate dehydrogenase 1 and 2 mutations in cancer: alterations at a crossroads of cellular metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Cardiomyopathies in propionic aciduria are reversible after liver transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Excitotoxicity and the NMDA receptor--still lethal after eight years

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Trafficking between glia and neurons of TCA cycle intermediates and related metabolites

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

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%2FS10545-013-9600-8

A safety trial of high dose glyceryl triacetate for Canavan disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Metabolism of [3-13C]pyruvate and [3-13C]propionate in normal and ischaemic rat heart in vivo: 1H- and 13C-NMR studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Chronic management and health supervision of individuals with propionic acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

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%2FS10545-013-9600-8

Late onset optic neuropathy in methylmalonic and propionic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of α-ketoglutarate-dependent dioxygenases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Functional and molecular identification of sodium-coupled dicarboxylate transporters in rat primary cultured cerebrocortical astrocytes and neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9600-8

Glutaric aciduria type I and methylmalonic aciduria: simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus

21 January 2018

1 reference

12 December 2020

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

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

Propionic acidemia: To liver transplant or not to liver transplant?

1 reference

12 December 2020

Contrasting effects of propionate and propionyl-L-carnitine on energy-linked processes in ischemic hearts

1 reference

12 December 2020

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia

1 reference

12 December 2020

Subacute bilateral visual loss in methylmalonic acidemia

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

Cardiac disease in methylmalonic acidemia

1 reference

12 December 2020

L-2-hydroxyglutaric aciduria: a report of 29 patients

1 reference

12 December 2020

Decreased activities of ubiquinol:ferricytochrome c oxidoreductase (complex III) and ferrocytochrome c:oxygen oxidoreductase (complex IV) in liver mitochondria from rats with hydroxycobalamin[c-lactam]-induced methylmalonic aciduria

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

10.1007/S10545-013-9600-8

Identifiers

DOI

1 reference

Dimensions Publication ID

28 August 2017

1042546474

0 references

1 reference