(Q28192185)

1

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A González

2

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C Mugueta

3

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A Martínez

4

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I Monreal

Journal of Physiology and Biochemistry

5

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language of work or name

English

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publication date

September 2001

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published in

1 reference

Trichopoliodystrophy. I. Report of a case and biochemical studies

volume

57

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issue

3

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page(s)

267-84

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cites work

1 reference

https://api.crossref.org/works/10.1007%2FBF03179820

Automation of a spectrophotometric method for measuring L -carnitine in human blood serum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03179820

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03179820

Arsenic toxicity is enzyme specific and its affects on ligation are not caused by the direct inhibition of DNA repair enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03179820

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03179820

Role of mitochondria in the etiology and pathogenesis of Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03179820

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03179820

Carbidopa/levodopa and selegiline do not affect platelet mitochondrial function in early parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03179820

Secondary abnormalities of mitochondrial DNA associated with neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03179820

Mixed triglyceride breath test: a noninvasive test of pancreatic lipase activity in the duodenum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03179820

A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study

21 January 2018

1 reference

12 December 2020

The expanding clinical spectrum of mitochondrial diseases

1 reference

12 December 2020

An integrated theory of aging as the result of mitochondrial-DNA mutation in differentiated cells

1 reference

12 December 2020

The role of mitochondria in the pathogenesis of neurodegenerative diseases

1 reference

12 December 2020

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia

1 reference

12 December 2020

Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

1 reference

12 December 2020

Assessment of mitochondrial function in vivo with a breath test utilizing alpha-ketoisocaproic acid

1 reference

12 December 2020

Sequence and organization of the human mitochondrial genome

1 reference

12 December 2020

Zidovudine-induced experimental myopathy: dual mechanism of mitochondrial damage

1 reference

12 December 2020

Zidovudine-induced mitochondrial disorder with massive liver steatosis, myopathy, lactic acidosis, and mitochondrial DNA depletion.

1 reference

12 December 2020

Mitochondria as Cell Targets of AZT (Zidovudine)

1 reference

12 December 2020

Abnormal in vivo skeletal muscle energy metabolism in Huntington's disease and dentatorubropallidoluysian atrophy

1 reference

12 December 2020

Skeletal muscle phosphocreatine recovery in exercise-trained humans is dependent on O2 availability

1 reference

12 December 2020

[Diagnostic strategy for mitochondrial diseases]

1 reference

12 December 2020

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency

1 reference

12 December 2020

Disorders of the mitochondria

1 reference

12 December 2020

The oxidant stress hypothesis in Parkinson's disease: evidence supporting it

1 reference

12 December 2020

Zidovudine (AZT) causes an oxidation of mitochondrial DNA in mouse liver

1 reference

12 December 2020

Amiodarone-induced liver disease

1 reference

12 December 2020

A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60

1 reference

12 December 2020

Effect of lamivudine on morphology and function of mitochondria in patients with chronic hepatitis B.

1 reference

12 December 2020

Mitochondrial dysfunction in alcoholic patients as assessed by breath analysis

1 reference

12 December 2020

31P MRS studies of exercising human muscle at high temporal resolution

1 reference

12 December 2020

L-dopa increases nigral production of hydroxyl radicals in vivo: potential L-dopa toxicity?

1 reference

12 December 2020

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

1 reference

12 December 2020

Proton MRS in neurological disorders

1 reference

12 December 2020

An update on the mitochondrial-DNA mutation hypothesis of cell aging

1 reference

12 December 2020

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy

1 reference

12 December 2020

Mitochondria uncoupling proteins and obesity: molecular and genetic aspects of UCP1

1 reference

12 December 2020

[Molecular genetics of alterations in the mitochondrial respiratory chain]

1 reference

12 December 2020

Acquired skeletal muscle metabolic myopathy in atherosclerotic peripheral arterial disease

1 reference

12 December 2020

A selective defect of cytochrome c oxidase is present in brain of Alzheimer disease patients.

1 reference

12 December 2020

Screening for mitochondrial cytopathies: the sub-anaerobic threshold exercise test (SATET).

1 reference

12 December 2020

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

1 reference

12 December 2020

Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency

1 reference

12 December 2020

Mitochondria in steatohepatitis

1 reference

12 December 2020

Mitochondrial dysfunction in Parkinson's disease

1 reference

12 December 2020

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

1 reference

12 December 2020

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

1 reference

12 December 2020

Mitochondrial enzyme activity in amyotrophic lateral sclerosis: implications for the role of mitochondria in neuronal cell death

1 reference

12 December 2020

Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients

1 reference

12 December 2020

A genetic variation in the 5' flanking region of the UCP3 gene is associated with body mass index in humans in interaction with physical activity

1 reference

12 December 2020

Human hepatic macrovesicular steatosis: a noninvasive study of mitochondrial ketoisocaproic acid decarboxylation

1 reference

12 December 2020

AZT decreases rat myocardial cytochrome oxidase activity and increases beta-myosin heavy chain content

1 reference

12 December 2020

Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

1 reference

12 December 2020

Oxidative damage and mitochondrial decay in aging

1 reference

12 December 2020

Improved PCR/NcoI method for the molecular diagnosis of medium chain acyl-CoA dehydrogenase deficiency using dried blood samples: two-stage amplification using two different sets of primers improves accuracy and sensitivity

1 reference

12 December 2020

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

1 reference

12 December 2020

Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy

1 reference

12 December 2020

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

1 reference

12 December 2020

Alpha-ketoglutarate dehydrogenase in Alzheimer brains bearing the APP670/671 mutation

1 reference

12 December 2020

Hepatotoxicity due to mitochondrial dysfunction

1 reference

12 December 2020

Effect of weight reduction, obesity predisposition, and aerobic fitness on skeletal muscle mitochondrial function

1 reference

12 December 2020

Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.

1 reference

12 December 2020

Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.

1 reference

12 December 2020

Platelet mitochondrial function in Parkinson's disease. The Royal Kings and Queens Parkinson Disease Research Group

1 reference

12 December 2020

Encephalopathy associated with haemophagocytic lymphohistiocytosis following rotavirus infection

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction

1 reference

12 December 2020

Mitochondrial disorders

1 reference

12 December 2020

Inhibition of mitochondrial beta-oxidation as a mechanism of hepatotoxicity

1 reference

12 December 2020

Recombinant adeno-associated virus vector-based gene transfer for defects in oxidative metabolism.

1 reference

12 December 2020

Assessment of whole body L-leucine oxidation by noninvasive L-[1-13C]leucine breath tests: a reappraisal in patients with maple syrup urine disease, obligate heterozygotes, and healthy subjects

1 reference

12 December 2020

Mitochondrial uncoupling proteins: from mitochondria to the regulation of energy balance

1 reference

12 December 2020

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

1 reference

12 December 2020

A molecular model of human branched-chain amino acid metabolism

1 reference

12 December 2020

Characterisation with stable isotopes of the presence of a lag phase in the gastric emptying of liquids

1 reference

12 December 2020

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

12 December 2020

A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene

1 reference

12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

12 December 2020

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

1 reference

12 December 2020

Mitochondrial function reflected by the decarboxylation of [13C]ketoisocaproate is impaired in alcoholics

1 reference

12 December 2020

Noninvasive assessment of the effect of xenobiotics on mitochondrial function in human beings: studies with acetylsalicylic acid and ethanol with the use of the carbon 13-labeled ketoisocaproate breath test

1 reference

12 December 2020

The hepatotoxicity of valproic acid and its metabolites in rats. I. Toxicologic, biochemical and histopathologic studies

1 reference

12 December 2020

Towards a molecular understanding of adaptive thermogenesis

1 reference

12 December 2020

"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis

1 reference

12 December 2020

Genetic and functional changes in mitochondria associated with aging

1 reference

12 December 2020

Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies

1 reference

12 December 2020

Mitochondrial encephalomyopathies

1 reference

12 December 2020

Significance of megamitochondria in alcoholic liver disease

1 reference

12 December 2020

Association of cerebral dysgenesis and lactic acidemia with X-linked PDH E1 alpha subunit mutations in females.

1 reference

12 December 2020

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

1 reference

12 December 2020

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

1 reference

12 December 2020

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

1 reference

12 December 2020

Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes

1 reference

12 December 2020

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

1 reference

12 December 2020

Clinical presentations and laboratory investigations in respiratory chain deficiency

1 reference

12 December 2020

Late-onset mitochondrial myopathy

1 reference

12 December 2020

UCP1: the only protein able to mediate adaptive non-shivering thermogenesis and metabolic inefficiency.

1 reference

12 December 2020

Mitochondrial adaptations to obesity-related oxidant stress

1 reference

12 December 2020

Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts

1 reference

12 December 2020

Campylobacter pylori detected noninvasively by the 13C-urea breath test

1 reference

12 December 2020

Skeletal muscle substrate metabolism

1 reference

12 December 2020

Disorders of mitochondria and related metabolism

1 reference

12 December 2020

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

1 reference

12 December 2020

Mitochondrial DNA: does more lead to less?

1 reference

12 December 2020

Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

1 reference

12 December 2020

1 reference

12 December 2020

The energy substrate switch during development of heart failure: gene regulatory mechanisms (Review)

1 reference

12 December 2020

Stereoselective and substrate-dependent inhibition of hepatic mitochondrial β-oxidation and oxidative phosphorylation by the non-steroidal anti-inflammatory drugs ibuprofen, flurbiprofen, and ketorolac

1 reference

12 December 2020

Effects of aluminum on activity of krebs cycle enzymes and glutamate dehydrogenase in rat brain homogenate

1 reference

12 December 2020

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation

1 reference

12 December 2020

Regulation of fat/carbohydrate interaction in human skeletal muscle during exercise

1 reference

12 December 2020

Impaired mitochondrial function in microvesicular steatosis. Effects of drugs, ethanol, hormones and cytokines

1 reference

12 December 2020

A mitochondrial DNA clone is associated with increased risk for Alzheimer disease

1 reference

12 December 2020

Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome

1 reference

12 December 2020

Mitochondrial proton leak: a role for uncoupling proteins 2 and 3?

1 reference

12 December 2020

31P magnetic resonance spectroscopy study of phosphocreatine recovery kinetics in skeletal muscle: the issue of intersubject variability

1 reference

12 December 2020

L-carnitine therapy in isovaleric acidemia

1 reference

12 December 2020

Chronic levodopa administration alters cerebral mitochondrial respiratory chain activity

1 reference

12 December 2020

Phosphorus 31 nuclear magnetic resonance spectroscopy suggests a mitochondrial defect in claudicating skeletal muscle

1 reference

12 December 2020

Can diffusion weighted magnetic resonance imaging help differentiate stroke from stroke-like events in MELAS?

1 reference

12 December 2020

Chloropicrin dechlorination in relation to toxic action

1 reference

12 December 2020

Molecular genetic aspects of human mitochondrial disorders

1 reference

12 December 2020

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

1 reference

12 December 2020

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

12 December 2020

Assessment of mitochondrial energy coupling in vivo by 13C/31P NMR

1 reference

12 December 2020

Giant mitochondria in the alcoholic liver diseases--their identification, frequency and pathologic significance

1 reference

12 December 2020

The effect of tacrolimus (FK506) on intestinal barrier function and cellular energy production in humans

1 reference

12 December 2020