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Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders

Paediatric drugs, 2014-08, Vol.16 (4), p.275-291

2014

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Altered skeletal muscle insulin signaling and mitochondrial complex II-III linked activity in adult offspring of obese mice

American journal of physiology. Regulatory, integrative and comparative physiology, 2009-09, Vol.297 (3), p.R675-R681

2009

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Differential effect of nitric oxide on glutathione metabolism and mitochondrial function in astrocytes and neurones: implications for neuroprotection/neurodegeneration?

Journal of neurochemistry, 2003-07, Vol.86 (1), p.228-237

2003

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Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease?

Journal of inherited metabolic disease, 2009-04, Vol.32 (2), p.269-273

2009

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Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment

Journal of inherited metabolic disease, 2005-01, Vol.28 (1), p.81-88

2005

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Nitric oxide-dependent damage to neuronal mitochondria involves the NMDA receptor

The European journal of neuroscience, 2002-02, Vol.15 (3), p.458-464

2002

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Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.1275-1283

2018

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Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph‐1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states

Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.256-262

2007

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Adaptation of the Nitrate Reductase and Griess Reaction Methods for the Measurement of Serum Nitrate plus Nitrite Levels

Annals of clinical biochemistry, 1997-03, Vol.34 (2), p.193-198

1997

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Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Journal of inherited metabolic disease, 2018-11, Vol.41 (6), p.1299-1301

2018

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Effects of 1‐Methyl‐4‐Phenylpyridinium on Isolated Rat Brain Mitochondria: Evidence for a Primary Involvement of Energy Depletion

Journal of neurochemistry, 1994-08, Vol.63 (2), p.640-648

1994

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Co-culture of neurones with glutathione deficient astrocytes leads to increased neuronal susceptibility to nitric oxide and increased glutamate-cysteine ligase activity

Brain research, 2005-03, Vol.1036 (1), p.1-6

2005

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Nitric Oxide‐Mediated Inhibition of the Mitochondrial Respiratory Chain in Cultured Astrocytes

Journal of neurochemistry, 1994-09, Vol.63 (3), p.910-916

1994

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Inhibition of mitochondrial complex IV leads to secondary loss complex II-III activity: implications for the pathogenesis and treatment of mitochondrial encephalomyopathies

Mitochondrion, 2007-07, Vol.7 (4), p.284-287

2007

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Neonatal epileptic encephalopathy

The Lancet (British edition), 2003-05, Vol.361 (9369), p.1614-1614

2003

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Diagnostic Value of Succinate Ubiquinone Reductase Activity in the Identification of Patients with Mitochondrial DNA Depletion

Journal of inherited metabolic disease, 2002-02, Vol.25 (1), p.7-16

2002

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Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia

Journal of inherited metabolic disease, 2003-01, Vol.26 (5), p.505-506

2003

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N-acetylcysteine and Unverricht-Lundborg disease: variable response and possible side effects

Neurology, 2002-11, Vol.59 (9), p.1447-1449

2002

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Mitochondrial respiratory chain defects are not accompanied by an increase in the activities of lactate dehydrogenase or manganese superoxide dismutase in paediatric skeletal muscle biopsies

Journal of inherited metabolic disease, 1999-12, Vol.22 (8), p.925-931

1999

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Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentration

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.221-223

1999

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Alterations in expression of dopamine receptors and neuropeptides in the striatum of GTP cyclohydrolase-deficient mice

Experimental neurology, 2004-12, Vol.190 (2), p.515-524

2004

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Nitric oxide accelerates the degradation of tetrahydrobiopterin but not total neopterin in cerebrospinal fluid; potential implications for the assessment of tetrahydrobiopterin metabolism

Annals of clinical biochemistry, 2007-07, Vol.44 (Pt 4), p.394-396

2007

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Nitric Oxide‐Mediated Mitochondrial Damage in the Brain: Mechanisms and Implications for Neurodegenerative Diseases

Journal of neurochemistry, 1997-06, Vol.68 (6), p.2227-2240

1997

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Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia

Pediatric research, 1994, Vol.35 (1), p.96-101

1994

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Effect of Peroxynitrite on the Mitochondrial Respiratory Chain: Differential Susceptibility of Neurones and Astrocytes in Primary Culture

Journal of neurochemistry, 1995-05, Vol.64 (5), p.1965-1972

1995

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Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders

Altered skeletal muscle insulin signaling and mitochondrial complex II-III linked activity in adult offspring of obese mice

Differential effect of nitric oxide on glutathione metabolism and mitochondrial function in astrocytes and neurones: implications for neuroprotection/neurodegeneration?

Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease?

Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment

Nitric oxide-dependent damage to neuronal mitochondria involves the NMDA receptor

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph‐1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states

Adaptation of the Nitrate Reductase and Griess Reaction Methods for the Measurement of Serum Nitrate plus Nitrite Levels

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Effects of 1‐Methyl‐4‐Phenylpyridinium on Isolated Rat Brain Mitochondria: Evidence for a Primary Involvement of Energy Depletion

Co-culture of neurones with glutathione deficient astrocytes leads to increased neuronal susceptibility to nitric oxide and increased glutamate-cysteine ligase activity

Nitric Oxide‐Mediated Inhibition of the Mitochondrial Respiratory Chain in Cultured Astrocytes

Inhibition of mitochondrial complex IV leads to secondary loss complex II-III activity: implications for the pathogenesis and treatment of mitochondrial encephalomyopathies

Neonatal epileptic encephalopathy

Diagnostic Value of Succinate Ubiquinone Reductase Activity in the Identification of Patients with Mitochondrial DNA Depletion

Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia

N-acetylcysteine and Unverricht-Lundborg disease: variable response and possible side effects

Mitochondrial respiratory chain defects are not accompanied by an increase in the activities of lactate dehydrogenase or manganese superoxide dismutase in paediatric skeletal muscle biopsies

Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentration

Alterations in expression of dopamine receptors and neuropeptides in the striatum of GTP cyclohydrolase-deficient mice

Nitric oxide accelerates the degradation of tetrahydrobiopterin but not total neopterin in cerebrospinal fluid; potential implications for the assessment of tetrahydrobiopterin metabolism

Nitric Oxide‐Mediated Mitochondrial Damage in the Brain: Mechanisms and Implications for Neurodegenerative Diseases

Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia

Effect of Peroxynitrite on the Mitochondrial Respiratory Chain: Differential Susceptibility of Neurones and Astrocytes in Primary Culture

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