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Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Nature genetics, 2004-04, Vol.36 (4), p.400-404

2004

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Homoplasmy, heteroplasmy, and mitochondrial dystonia

Neurology, 2007-08, Vol.69 (9), p.911

2007

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients

Pediatrics (Evanston), 2002-01, Vol.109 (1), p.99

2002

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Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

Nature genetics, 2002-02, Vol.30 (2), p.145-146

2002

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Leigh disease associated with a novel mitochondrial DNA ND5 mutation

European journal of human genetics : EJHG, 2002-02, Vol.10 (2), p.141-144

2002

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Pyruvate dehydrogenase E3 binding protein (protein X) deficiency

Developmental medicine and child neurology, 2006-09, Vol.48 (9), p.756-760

2006

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Cerebral edema associated with betaine treatment in classical homocystinuria

The Journal of pediatrics, 2004-04, Vol.144 (4), p.545-548

2004

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HIV nucleoside analogues: new adverse effects on mitochondria?

The Lancet (British edition), 1999-09, Vol.354 (9184), p.1046-1047

1999

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ARC syndrome: an expanding range of phenotypes

Archives of disease in childhood, 2001-11, Vol.85 (5), p.415-420

2001

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Inborn errors of metabolism around time of birth

The Lancet (British edition), 2000-08, Vol.356 (9229), p.583-587

2000

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Biotinidase deficiency: a treatable leukoencephalopathy

Neuropediatrics, 2004-08, Vol.35 (4), p.211

2004

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Renal tubular acidosis and hypophosphataemia after treatment with nucleoside reverse transcriptase inhibitors

AIDS (London), 2001-01, Vol.15 (1), p.140-141

2001

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

Brain (London, England : 1878), 1995-04, Vol.118 (2), p.339-357

1995

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Molecular Mechanisms in Mitochondrial DNA Depletion Syndrome

Human molecular genetics, 1997-06, Vol.6 (6), p.935-942

1997

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The significance of a high plasma ammonia value

Archives of disease in childhood, 2004-06, Vol.89 (6), p.585-586

2004

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Liver failure associated with mitochondrial DNA depletion

Journal of hepatology, 1998-04, Vol.28 (4), p.556-563

1998

Volltextzugriff (PDF)

Are tablets a practical source of protein substitute in phenylketonuria?

Archives of disease in childhood, 2003-04, Vol.88 (4), p.327-329

2003

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A novel point mutation in the mitochondrial tRNA gene produces a neurogastrointestinal syndrome

European journal of human genetics : EJHG, 2004-06, Vol.12 (6), p.509-512

2004

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Mitochondrial DMA recombination

The Lancet (British edition), 2000-09, Vol.356 (9233), p.941

2000

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Lipid‐storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late‐onset multiple acyl‐CoA dehydrogenation deficiency

Journal of inherited metabolic disease, 2004-01, Vol.27 (5), p.671-678

2004

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Deficiency of respiratory chain complex I is a common cause of leigh disease

Annals of neurology, 1996-07, Vol.40 (1), p.25-30

1996

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Glutaric aciduria and suspected child abuse

Archives of disease in childhood, 1999-05, Vol.80 (5), p.404-405

1999

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Mutation spectrum in patients with fructose‐1,6‐bisphosphatase deficiency

Journal of inherited metabolic disease, 2001-02, Vol.24 (1), p.87-88

2001

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Infantile hypophosphatasia: disappointing results of treatment

Acta Paediatrica, 2000-06, Vol.89 (6), p.730-743

2000

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Can paternal mtDNA be inherited?

The Lancet (British edition), 2000-04, Vol.355 (9212), p.1290-1291

2000

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Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Homoplasmy, heteroplasmy, and mitochondrial dystonia

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

Leigh disease associated with a novel mitochondrial DNA ND5 mutation

Pyruvate dehydrogenase E3 binding protein (protein X) deficiency

Cerebral edema associated with betaine treatment in classical homocystinuria

HIV nucleoside analogues: new adverse effects on mitochondria?

ARC syndrome: an expanding range of phenotypes

Inborn errors of metabolism around time of birth

Biotinidase deficiency: a treatable leukoencephalopathy

Renal tubular acidosis and hypophosphataemia after treatment with nucleoside reverse transcriptase inhibitors

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

Molecular Mechanisms in Mitochondrial DNA Depletion Syndrome

The significance of a high plasma ammonia value

Liver failure associated with mitochondrial DNA depletion

Are tablets a practical source of protein substitute in phenylketonuria?

A novel point mutation in the mitochondrial tRNA gene produces a neurogastrointestinal syndrome

Mitochondrial DMA recombination

Lipid‐storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late‐onset multiple acyl‐CoA dehydrogenation deficiency

Deficiency of respiratory chain complex I is a common cause of leigh disease

Glutaric aciduria and suspected child abuse

Mutation spectrum in patients with fructose‐1,6‐bisphosphatase deficiency

Infantile hypophosphatasia: disappointing results of treatment

Can paternal mtDNA be inherited?

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