Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications (Q41928984)

14 October 2017

Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications (English)

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14 October 2017

J F Samson

1

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14 October 2017

P G Barth

2

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14 October 2017

J I de Vries

3

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14 October 2017

F H Menko

4

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14 October 2017

W Ruitenbeek

5

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14 October 2017

B A van Oost

6

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14 October 2017

C Jakobs

7

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14 October 2017

1 July 1994

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European Journal of Pediatrics

14 October 2017

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14 October 2017

153

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14 October 2017

7

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14 October 2017

510-516

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In utero central nervous system damage in pyruvate dehydrogenase deficiency

14 October 2017

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12 December 2020

Biochemical and histologic pathology in an infant with cross-reacting material (negative) pyruvate carboxylase deficiency

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12 December 2020

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

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12 December 2020

Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia

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12 December 2020

Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies

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12 December 2020

Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria

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12 December 2020

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death

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12 December 2020

Studies on the formation of lactate and pyruvate from glucose in cultured skin fibroblasts: implications for detection of respiratory chain defects.

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12 December 2020

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

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12 December 2020

Mitochondrial mutation in fatal infantile cardiomyopathy

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12 December 2020

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

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12 December 2020

Fatal combined defects in mitochondrial multienzyme complexes in two siblings

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12 December 2020

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

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12 December 2020

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

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12 December 2020

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

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12 December 2020

A fourth case of fumarase deficiency

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12 December 2020

Fatal congenital lactic acidosis in two siblings. I. Clinical and pathological findings

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12 December 2020

Neuropathology in cerebral lactic acidosis

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12 December 2020

Infantile subacute necrotizing encephalopathy

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12 December 2020

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

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12 December 2020

Mitochondrial myopathies: multiple enzyme defects in the respiratory chain

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12 December 2020

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

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12 December 2020

Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism

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12 December 2020

Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase

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12 December 2020

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

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12 December 2020

Disorders of neuronal migration

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12 December 2020

Enzyme activities of the mitochondrial energy generating system in skeletal muscle tissue of preterm and fullterm neonates

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12 December 2020

PYRUVATE CARBOXYLASE. I. NATURE OF THE REACTION

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12 December 2020

Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset

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12 December 2020

Subacute necrotizing encephalopathy (Leigh's disease): two unusual cases

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12 December 2020

Familial leukoencephalopathy associated with congenital lactic acidosis

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12 December 2020

Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme.

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12 December 2020

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

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12 December 2020

Congenital Leigh's disease: Panencephalomyelopathy and peripheral neuropathy

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12 December 2020

Identifiers

DOI

10.1007/S004310050182

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14 October 2017

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