(Q52516235)

2 May 2018

title

An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency. (English)

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2 May 2018

author

John Christodoulou

1

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2 May 2018

author name string

R Petrova-Benedict

2

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2 May 2018

B H Robinson

3

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2 May 2018

V Jay

4

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2 May 2018

J T Clarke

5

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2 May 2018

publication date

1 May 1993

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2 May 2018

European Journal of Pediatrics

published in

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2 May 2018

volume

152

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2 May 2018

issue

5

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2 May 2018

page(s)

428-432

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2 May 2018

https://scigraph.springernature.com/pub.10.1007/bf01955904

exact match

0 references

cites work

Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01955904

Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome

21 January 2018

1 reference

12 December 2020

Diagnosis and management of infantile marfan syndrome

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12 December 2020

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

1 reference

12 December 2020

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity

1 reference

12 December 2020

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

12 December 2020

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

1 reference

12 December 2020

The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.

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

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

Fatal combined defects in mitochondrial multienzyme complexes in two siblings

1 reference

12 December 2020

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

12 December 2020

Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine

1 reference

12 December 2020

Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency

1 reference

12 December 2020

Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease

1 reference

12 December 2020

Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome

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

The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis

1 reference

12 December 2020

Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.

1 reference

12 December 2020

Severe perinatal Marfan syndrome

1 reference

12 December 2020

Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome

1 reference

12 December 2020

Diagnosis of organic acidemias by gas chromatography--mass spectrometry

1 reference

12 December 2020

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease

1 reference

12 December 2020

Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01955904

1 reference

2 May 2018

1 reference

2 May 2018