The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders (Q38294904)

1 September 2017

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title

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders (English)

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1 September 2017

13

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1 September 2017

Isabel Rivera

10

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Antonia Ribes

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Antonia Ribes

5

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Holger Prokisch

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Holger Prokisch

11

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Richard J Rodenburg

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Richard J Rodenburg

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author name string

Wolfgang Sperl

1

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1 September 2017

Leanne Fleuren

2

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1 September 2017

Peter Freisinger

3

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1 September 2017

Tobias B Haack

4

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1 September 2017

René G Feichtinger

6

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1 September 2017

Franz A Zimmermann

8

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1 September 2017

Johannes Koch

9

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1 September 2017

Jan A Smeitink

12

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1 September 2017

20 December 2014

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Journal of Inherited Metabolic Disease

1 September 2017

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1 September 2017

38

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1 September 2017

391-403

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1 September 2017

3

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https://scigraph.springernature.com/pub.10.1007/s10545-014-9787-3

1 September 2017

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Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

21 January 2018

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Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis

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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

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A defect in pyruvate decarboxylase in a child with an intermittent movement disorder

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Pyruvate oxidation in rat and human skeletal muscle mitochondria

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Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome

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A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans

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Impaired mitochondrial pyruvate importation in a patient and a fetus at risk

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Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes

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Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype

21 January 2018

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DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

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Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype

21 January 2018

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Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations

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Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency

21 January 2018

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Species differences in the effects of bezafibrate as a potential treatment of mitochondrial disorders.

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Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.

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Phenylbutyrate increases activity of pyruvate dehydrogenase complex

21 January 2018

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Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis.

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Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

21 January 2018

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Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

21 January 2018

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Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.

21 January 2018

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Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

21 January 2018

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A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate

21 January 2018

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Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.

21 January 2018

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Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency

21 January 2018

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Identification and functional expression of the mitochondrial pyruvate carrier

21 January 2018

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Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

21 January 2018

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Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

21 January 2018

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A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

21 January 2018

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Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

21 January 2018

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Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy

21 January 2018

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Cloning, expression, and properties of the regulatory subunit of bovine pyruvate dehydrogenase phosphatase

21 January 2018

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Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient

21 January 2018

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Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation

21 January 2018

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Lipoic acid biosynthesis defects.

21 January 2018

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Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway

21 January 2018

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A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency

21 January 2018

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Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation

21 January 2018

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Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia

21 January 2018

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Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

21 January 2018

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Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region

21 January 2018

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A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

21 January 2018

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Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency

21 January 2018

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Thiamine transporter-2 deficiency: outcome and treatment monitoring

21 January 2018

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The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients

21 January 2018

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New treatments for mitochondrial disease-no time to drop our standards

21 January 2018

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Pyruvate dehydrogenase deficiency and epilepsy

21 January 2018

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Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency

21 January 2018

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PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation

21 January 2018

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Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Mitochondrial iron-sulfur protein biogenesis and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Effect of lipoic acid in a patient with defective activity of pyruvate dehydrogenase, 2-oxoglutarate dehydrogenase, and branched-chain keto acid dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9787-3

El Pyruvate Dehydrogenase Deficiency in a Child with Motor Neuropathy

21 January 2018

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12 December 2020

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

1 reference

12 December 2020

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

1 reference

12 December 2020

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

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12 December 2020

Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies

1 reference

12 December 2020

Measurement of totally activated pyruvate dehydrogenase complex activity in human muscle: evaluation of a useful assay

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12 December 2020

Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia

1 reference

12 December 2020

Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift

1 reference

12 December 2020

Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment

1 reference

12 December 2020

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

1 reference

12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

12 December 2020

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect

1 reference

12 December 2020

SnapShot: eukaryotic Fe-S protein biogenesis

1 reference

12 December 2020

10.1007/S10545-014-9787-3

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1 September 2017

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