1 Gen  2003  -  31 Gen  2003

(142 articoli trovati)

 

1 Acta Biochim Pol 1 Genetica
1 Acta Neuropathol (Berl) 1 Genome Biol
1 Acta Otolaryngol 1 Homo
2 Acta Paediatr 2 Hum Genet
1 Adv Clin Chem 1 Int J Mol Med
2 Adv Exp Med Biol 1 Int J Oncol
1 AJNR Am J Neuroradiol 1 Int Rev Cytol
1 Am J Hum Genet 1 J Appl Genet
1 Am J Physiol Heart Circ Physiol 1 J Appl Physiol
1 Anesthesiology 1 J Biochem Mol Toxicol
1 Ann Clin Biochem 6 J Biol Chem
1 Ann Clin Lab Sci 1 J Cell Biol
1 Ann Hum Biol 1 J Child Neurol
1 Ann Hum Genet 3 J Hum Genet
2 Ann Neurol 12 J Inherit Metab Dis
1 Annu Rev Biochem 1 J Neural Transm Suppl
1 Annu Rev Physiol 1 J Neurooncol
1 Arch Neurol 1 J Pharmacol Exp Ther
3 Biochem Biophys Res Commun 1 J Submicrosc Cytol Pathol
2 Biochim Biophys Acta 1 J Viral Hepat
1 Biol Cell 2 J Virol
1 Biol Neonate 1 Lancet
1 Biol Pharm Bull 1 Mech Ageing Dev
1 Biol Reprod 4 Med Sci Sports Exerc
1 Br J Cancer 1 Methods Enzymol
1 Cardiovasc Res 6 Methods Mol Biol
1 Circ J 1 Methods Mol Med
1 Circulation 1 Mol Cell
1 Clin Chem 2 Mutat Res
1 Clin Exp Pharmacol Physiol 1 Nat Genet
1 Clin Infect Dis 1 Neurolog
1 Clin Pharmacokinet 3 Neuromolecular Med
1 Cochrane Database Syst Rev 4 Nucleic Acids Res
2 Crit Care Med 1 Pathol Res Pract
1 Crit Rev Ther Drug Carrier Syst 1 Pediatr Neurol
1 Curr Med Res Opin 2 Philos Trans R Soc Lond B Biol Sci
1 Curr Opin Clin Nutr Metab Care 1 Physiol Res
1 Dev Ophthalmol 1 Prenat Diagn
1 EMBO Rep 2 Proc Natl Acad Sci U S A
1 Eur J Hum Genet 1 Prog Cardiovasc Dis
1 Eur J Paediatr Neurol 1 Redox Rep
2 Eur Neurol 1 Sports Med
14 Exp Physiol    

 

Acta Biochim Pol

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Copeland WC, et al. Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders.
Acta Biochim Pol 2003;50(1):155-67.  

 

Acta Neuropathol (Berl)

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Tanji K, et al. The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.
Acta Neuropathol (Berl) 2003 Jan;105(1):69-75.  

 

Acta Otolaryngol

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Yasumura S, et al. Cochlear implantation in a patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome.
Acta Otolaryngol 2003 Jan;123(1):55-8.  

 

Acta Paediatr

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Simsek E, et al. Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature.
Acta Paediatr 2003;92(1):55-61.  
Divne AM, et al. Analysis of the mitochondrial genome in sudden infant death syndrome.
Acta Paediatr 2003;92(3):386-8.  

 

Adv Clin Chem

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Wei YH, et al. Mitochondrial DNA mutations and oxidative stress in mitochondrial diseases.
Adv Clin Chem 2003;37:83-128.  

 

Adv Exp Med Biol

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Davies NA, et al. Inhibition of mitochondrial respiration during early stage sepsis.
Adv Exp Med Biol 2003;530:725-36.  
Sudoyo H, et al. Mitochondrial genome and susceptibility to diabetes mellitus.
Adv Exp Med Biol 2003;531:19-36.  

 

AJNR Am J Neuroradiol

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Lin DD, et al. Proton MR Spectroscopy in the Diagnostic Evaluation of Suspected Mitochondrial Disease.
AJNR Am J Neuroradiol 2003 Jan;24(1):33-41.  

 

Am J Hum Genet

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Gilbert MT, et al. Distribution patterns of postmortem damage in human mitochondrial DNA.
Am J Hum Genet 2003 Jan;72(1):32-47.  

 

Am J Physiol Heart Circ Physiol

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Lewis W. Defective mitochondrial DNA replication and NRTIs: pathophysiological implications in AIDS cardiomyopathy.
Am J Physiol Heart Circ Physiol 2003 Jan;284(1):H1-9.  

 

Anesthesiology

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Allen GC, et al. Bispectral index and mitochondrial myopathies.
Anesthesiology 2003 Jan;98(1):282-3.  

 

Ann Clin Biochem

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Janssen AJ. Some practical aspects of providing a diagnostic service for respiratory chain defects.
Ann Clin Biochem 2003;40(1):3-8.  

 

Ann Clin Lab Sci

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Fosslien E. Review: Mitochondrial medicine--cardiomyopathy caused by defective oxidative phosphorylation.
Ann Clin Lab Sci 2003 Fall;33(4):371-95.  

 

Ann Hum Biol

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Roy S, et al. Mitochondrial DNA variation in ranked caste groups of Maharashtra (India) and its implication on genetic relationships and origins.
Ann Hum Biol 2003;30(4):443-454.  

 

Ann Hum Genet

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Romano V, et al. Autosomal microsatellite and mtDNA genetic analysis in Sicily (Italy).
Ann Hum Genet 2003 Jan;67(Pt 1):42-53.  

 

Ann Neurol

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Bunse M, et al. Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia.
Ann Neurol 2003 Jan;53(1):121-3.  
Liolitsa D, et al. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
Ann Neurol 2003 Jan;53(1):128-32.  

 

Annu Rev Biochem

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Cecchini G. Function and structure of complex II of the respiratory chain.
Annu Rev Biochem 2003;72:77-109.  

 

Annu Rev Physiol

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Moyes CD, et al. Origin and Consequences of Mitochondrial Variationin Vertebrate Muscle.
Annu Rev Physiol 2003 Jan 9;.  

 

Arch Neurol

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Schulte-Mattler WJ, et al. Increased metabolic muscle fatigue is caused by some but not all mitochondrial mutations.
Arch Neurol 2003 Jan;60(1):50-8.  

 

Biochem Biophys Res Commun

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Satoh M, et al. Differential sublocalization of the dynamin-related protein OPA1 isoforms in mitochondria.
Biochem Biophys Res Commun 2003 Jan 10;300(2):482-93.  
Sakai K, et al. Mitochondrial reactive oxygen species reduce insulin secretion by pancreatic beta-cells.
Biochem Biophys Res Commun 2003 Jan 3;300(1):216-222.  
Chretien D, et al. Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts.
Biochem Biophys Res Commun 2003 Jan 31;301(1):222-4.  

 

Biochim Biophys Acta

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MacDonald MJ. The export of metabolites from mitochondria and anaplerosis in insulin secretion.
Biochim Biophys Acta 2003 Jan 2;1619(1):77-88.  
Oliveira PJ, et al. Reduction in cardiac mitochondrial calcium loading capacity is observable during alpha-naphthylisothiocyanate-induced acute cholestasis: a clue for hepatic-derived cardiomyopathies?
Biochim Biophys Acta 2003 Jan 20;1637(1):39-45.  

 

Biol Cell

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Brocard JB, et al. New perspectives on mitochondrial morphology in cell function.
Biol Cell 2003;95(5):239-42.  

 

Biol Neonate

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Ballesteros JR, et al. Alterations in Cerebral Mitochondria during Acute Hypoglycemia.
Biol Neonate 2003;84(2):159-63.  

 

Biol Pharm Bull

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Lu WL, et al. Total Coenzyme Q(10) Concentrations in Asian Men Following Multiple Oral 50-mg Doses Administered as Coenzyme Q(10) Sustained Release Tablets or Regular Tablets.
Biol Pharm Bull 2003;26(1):52-55.  

 

Biol Reprod

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Diez-Sanchez C, et al. Mitochondrial DNA content of human spermatozoa.
Biol Reprod 2003 Jan;68(1):180-5.  

 

Br J Cancer

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Durham SE, et al. Mitochondrial DNA damage in non-melanoma skin cancer.
Br J Cancer 2003 Jan 13;88(1):90-5.  

 

Cardiovasc Res

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Zhang D, et al. Mitochondrial DNA mutations activate the mitochondrial apoptotic pathway and cause dilated cardiomyopathy.
Cardiovasc Res 2003 Jan;57(1):147-57.  

 

Circ J

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Mukae S, et al. Mitochondrial 5178A/C Genotype is Associated With Acute Myocardial Infarction.
Circ J 2003 Jan;67(1):16-20.  

 

Circulation

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Blanc J, et al. Protective role of uncoupling protein 2 in atherosclerosis.
Circulation 2003 Jan 28;107(3):388-90.  

 

Clin Chem

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Boles RG, et al. Quantification of mitochondrial DNA heteroplasmy by temporal temperature gradient gel electrophoresis.
Clin Chem 2003 Jan;49(1):198-200.  

 

Clin Exp Pharmacol Physiol

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Sammut IA, et al. Cardiac mitochondrial complex activity is enhanced by heat shock proteins.
Clin Exp Pharmacol Physiol 2003 Jan-Feb;30(1-2):110-5.  

 

Clin Infect Dis

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Hellerstein MK. Turnover of adipose components and mitochondrial DNA in humans: kinetic biomarkers for human immunodeficiency virus-associated lipodystrophy and mitochondrial toxicity?
Clin Infect Dis 2003;37 Suppl 2:S52-61.  

 

Clin Pharmacokinet

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Evans A, et al. Pharmacokinetics of L-Carnitine.
Clin Pharmacokinet 2003;42(11):941-967.  

 

Cochrane Database Syst Rev

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Hudson S, et al. Acetyl-l-carnitine for dementia (Cochrane Review).
Cochrane Database Syst Rev 2003;(2):CD003158.  

 

Crit Care Med

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Salvemini D, et al. Therapeutic potential of superoxide dismutase mimetics as therapeutic agents in critical care medicine.
Crit Care Med 2003 Jan;31(1):S29-38.  
Fink MP. Ethyl pyruvate: A novel anti-inflammatory agent.
Crit Care Med 2003 Jan;31(1):S51-6.  

 

Crit Rev Ther Drug Carrier Syst

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Weissig V. Mitochondrial-targeted drug and DNA delivery.
Crit Rev Ther Drug Carrier Syst 2003;20(1):1-62.  

 

Curr Med Res Opin

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Bianchetti A, et al. Effects of acetyl-L-carnitine in Alzheimer's disease patients unresponsive to acetylcholinesterase inhibitors.
Curr Med Res Opin 2003;19(4):350-3.  

 

Curr Opin Clin Nutr Metab Care

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Pierson RN Jr. Body composition in aging: a biological perspective.
Curr Opin Clin Nutr Metab Care 2003 Jan;6(1):15-20.  

 

Dev Ophthalmol

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Howell N. LHON and other optic nerve atrophies: the mitochondrial connection.
Dev Ophthalmol 2003;37:94-108.; Review  

 

EMBO Rep

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Feuermann M, et al. The yeast counterparts of human 'MELAS' mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF-Tu.
EMBO Rep 2003 Jan;4(1):53-8.  

 

Eur J Hum Genet

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Kocaefe YC, et al. Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
Eur J Hum Genet 2003 Jan;11(1):102-4.  

 

Eur J Paediatr Neurol

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Gordon N. Ornithine transcarbamylase deficiency: a urea cycle defect.
Eur J Paediatr Neurol 2003;7(3):115-21.  

 

Eur Neurol

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Grazina M, et al. Parkinson's Disease and Mitochondrial DNA NADH Dehydrogenase Subunit 1 Nucleotides 3337-3340: Study in a Population from the Central Region of Portugal (Coimbra).
Eur Neurol 2003;50(1):60-61.  
Kwon JH, et al. Rhabdomyolysis in a Patient with MELAS Syndrome.
Eur Neurol 2003;50(2):123-124.  

 

Exp Physiol

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Hoppeler H, et al. Response of skeletal muscle mitochondria to hypoxia.
Exp Physiol 2003 Jan;88(Pt 1):109-19.  
Weitzel JM, et al. Regulation of mitochondrial biogenesis by thyroid hormone.
Exp Physiol 2003 Jan;88(Pt 1):121-8.  
Scheller K, et al. The effects of steroid hormones on the transcription of genes encoding enzymes of oxidative phosphorylation.
Exp Physiol 2003 Jan;88(Pt 1):129-40.  
Kunz WS. Different metabolic properties of mitochondrial oxidative phosphorylation in different cell types - important implications for mitochondrial cytopathies.
Exp Physiol 2003 Jan;88(Pt 1):149-54.  
Von Kleist-Retzow JC, et al. Mitochondrial diseases - an expanding spectrum of disorders and affected genes.
Exp Physiol 2003 Jan;88(Pt 1):155-66.  
Hofhaus G, et al. Live now - pay by ageing: high performance mitochondrial activity in youth and its age-related side effects.
Exp Physiol 2003 Jan;88(Pt 1):167-74.  
Appaix F, et al. Possible role of cytoskeleton in intracellular arrangement and regulation of mitochondria.
Exp Physiol 2003 Jan;88(Pt 1):175-190.  
Goffart S, et al. Regulation and co-ordination of nuclear gene expression during mitochondrial biogenesis.
Exp Physiol 2003 Jan;88(Pt 1):33-40.  
Fernandez-Silva P, et al. Replication and transcription of mammalian mitochondrial DNA.
Exp Physiol 2003 Jan;88(Pt 1):41-56.  
Stojanovski D, et al. Import of nuclear-encoded proteins into mitochondria.
Exp Physiol 2003 Jan;88(Pt 1):57-64.  
Nedergaard J, et al. Pros and cons for suggested functions.
Exp Physiol 2003 Jan;88(Pt 1):65-84.  
Gulbins E, et al. Role of mitochondria in apoptosis.
Exp Physiol 2003 Jan;88(Pt 1):85-90.  
Ganitkevich VY. The role of mitochondria in cytoplasmic Ca(2+) cycling.
Exp Physiol 2003 Jan;88(Pt 1):91-7.  
Adhihetty PJ, et al. Plasticity of skeletal muscle mitochondria in response to contractile activity.
Exp Physiol 2003 Jan;88(Pt 1):99-107.  

 

Genetica

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Budar F, et al. The nucleo-mitochondrial conflict in cytoplasmic male sterilities revisited.
Genetica 2003 Jan;117(1):3-16.  

 

Genome Biol

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Heazlewood JL, et al. What makes a mitochondrion?
Genome Biol 2003;4(6):218.  

 

Homo

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Curnoe D, et al. Number of ancestral human species: a molecular perspective.
Homo 2003;53(3):201-24.  

 

Hum Genet

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Turner C, et al. Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.
Hum Genet 2003 Jan 24;.  
Niemi AK, et al. Mitochondrial DNA polymorphisms associated with longevity in a Finnish population.
Hum Genet 2003 Jan;112(1):29-33.  

 

Int J Mol Med

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Takeda N. Cardiomyopathy: Molecular and immunological aspects (Review).
Int J Mol Med 2003 Jan;11(1):13-6.  

 

Int J Oncol

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Gupta S. Molecular signaling in death receptor and mitochondrial pathways of apoptosis (Review).
Int J Oncol 2003 Jan;22(1):15-20.  

 

Int Rev Cytol

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Nieminen AL. Apoptosis and necrosis in health and disease: role of mitochondria.
Int Rev Cytol 2003;224:29-55.  

 

J Appl Genet

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MROCZEK-TONSKA K, et al. Leber hereditary optic neuropathy - a disease with a known molecular basis but a mysterious mechanism of pathology.
J Appl Genet 2003;44(4):529-538.  

 

J Appl Physiol

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Collins ML, et al. Measurement of Mitochondrial DNA Synthesis In Vivo in Rodents and Humans Using a Stable Isotope-Mass Spectrometric Technique.
J Appl Physiol 2003 Jan 31;.  

 

J Biochem Mol Toxicol

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Ferreira FM, et al. Diabetes and mitochondrial bioenergetics: Alterations with age.
J Biochem Mol Toxicol 2003;17(4):214-22.  

 

J Biol Chem

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Hojlund K, et al. Proteome analysis reveals phosphorylation of ATP synthase beta -subunit in human skeletal muscle and proteins with potential roles in type 2 diabetes.
J Biol Chem 2003 Jan 16;.  
Mukhopadhyay A, et al. Location of the actual signal in the negatively charged leader sequence involved in the import into the mitochondrial matrix space.
J Biol Chem 2003 Jan 27;.  
Dussmann H, et al. Mitochondrial membrane permeabilization and superoxide production during apoptosis: A single-cell analysis.
J Biol Chem 2003 Jan 30;.  
Janssen E, et al. Adenylate kinase 1 deficiency induces molecular and structural adaptations to support muscle energy metabolism.
J Biol Chem 2003 Jan 31;.  
Jazayeri M, et al. Inducible expression of a dominant negative DNA polymerase-gamma depletes mitochondrial DNA and produces a rho0 phenotype.
J Biol Chem 2003 Jan 6;.  
Barrientos A, et al. Cytochrome oxidase assembly does not require catalytically active cytochrome c.
J Biol Chem 2003 Jan 8;.  

 

J Cell Biol

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Chen H, et al. Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development.
J Cell Biol 2003 Jan 13;.  

 

J Child Neurol

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Tsao CY, et al. Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.
J Child Neurol 2003 Jan;18(1):62-4.  

 

J Hum Genet

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Mimaki M, et al. A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.
J Hum Genet 2003;48(1):47-50.  
Smeets RJ, et al. A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.
J Hum Genet 2003;48(1):8-13.  
Malik S, et al. Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family.
J Hum Genet 2003;48(3):119-24.  

 

J Inherit Metab Dis

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Fu X, et al. Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
J Inherit Metab Dis 2003;26(1):55-66.  
Winter SC. Treatment of carnitine deficiency.
J Inherit Metab Dis 2003;26(2-3):171-80.  
Chretien D, et al. Mitochondrial oxidative phosphorylation: pitfalls and tips in measuring and interpreting enzyme activities.
J Inherit Metab Dis 2003;26(2-3):189-98.  
Smeitink JA. Mitochondrial disorders: clinical presentation and diagnostic dilemmas.
J Inherit Metab Dis 2003;26(2-3):199-207.  
Votruba M, et al. A review of primary hereditary optic neuropathies.
J Inherit Metab Dis 2003;26(2-3):209-27.  
Oey NA, et al. High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease.
J Inherit Metab Dis 2003;26(4):385-92.  
Lee JE, et al. A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy.
J Inherit Metab Dis 2003;26(4):403-6.  
Fukao T, et al. The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity.
J Inherit Metab Dis 2003;26(5):423-31.  
Yano S, et al. Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome.
J Inherit Metab Dis 2003;26(5):481-8.  
Vives-Bauza C, et al. Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA.
J Inherit Metab Dis 2003;26(5):507-8.  
Lundy CT, et al. Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.
J Inherit Metab Dis 2003;26(6):537-541.  
Grafakou O, et al. Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNA(Ser(UCN)) gene.
J Inherit Metab Dis 2003;26(6):593-600.  

 

J Neural Transm Suppl

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Jellinger KA. General aspects of neurodegeneration.
J Neural Transm Suppl 2003;(65):101-44.  

 

J Neurooncol

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Kirches E, et al. Mitochondrial DNA as a clonal tumor cell marker: gliomatosis cerebri.
J Neurooncol 2003 Jan;61(1):1-5.