(Q32161682)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241464%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation) (English)

1 reference

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5 November 2019

0 references

8

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5 November 2019

author name string

R D De Kremer

1

1 reference

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5 November 2019

A Paschini-Capra

2

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5 November 2019

S Bacman

3

1 reference

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5 November 2019

C Argaraña

4

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5 November 2019

G Civallero

5

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5 November 2019

R I Kelley

6

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5 November 2019

N Guelbert

7

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5 November 2019

I Noher de Halac

9

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5 November 2019

A Giner-Ayala

10

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5 November 2019

J Johnston

11

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5 November 2019

R Proujansky

12

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5 November 2019

I Gonzalez

13

1 reference

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5 November 2019

C Depetris-Boldini

14

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5 November 2019

A Oller-Ramírez

15

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5 November 2019

C Angaroni

16

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5 November 2019

R A Theaux

17

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5 November 2019

E Hliba

18

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5 November 2019

E Juaneda

19

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5 November 2019

publication date

1 March 2001

1 reference

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American Journal of Medical Genetics Part A

5 November 2019

published in

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5 November 2019

volume

99

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5 November 2019

issue

2

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5 November 2019

page(s)

83-93

1 reference

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Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

5 November 2019

cites work

1 reference

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An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

21 January 2018

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)

21 January 2018

1 reference

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A novel X-linked gene, G4.5. is responsible for Barth syndrome

21 January 2018

1 reference

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Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes

21 January 2018

1 reference

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Barth syndrome: clinical observations and genetic linkage studies.

21 January 2018

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Maternally inherited Leigh syndrome.

21 January 2018

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Mitochondrial encephalomyopathies: what next?

21 January 2018

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Estimation of NADH oxidation in human skeletal muscle mitochondria.

21 January 2018

1 reference

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Multiple syndromes of 3-methylglutaconic aciduria

21 January 2018

1 reference

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

21 January 2018

1 reference

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Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease

21 January 2018

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Mutation characterization and genotype-phenotype correlation in Barth syndrome

21 January 2018

1 reference

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Mitochondrial DNA and RNA processing in MELAS.

21 January 2018

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X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

21 January 2018

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Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluid by isotope-dilution gas chromatography/mass spectrometry

21 January 2018

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Molecular genetic aspects of human mitochondrial disorders

21 January 2018

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Possible X linked congenital mitochondrial cardiomyopathy in three families

21 January 2018

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Metabolic intermediates in lactic acidosis: compounds, samples and interpretation

21 January 2018

1 reference

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Independence of blood and cerebrospinal fluid lactate.

21 January 2018

1 reference

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Morphological studies of skeletal muscle in lactic acidosis

21 January 2018

1 reference

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Morphological observations in skeletal muscle from patients with a mitochondrial myopathy

21 January 2018

1 reference

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Clearance of lactate from the cerebrospinal fluid

21 January 2018

1 reference

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Mitochondrial diseases in man and mouse

21 January 2018

1 reference

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Neurological presentations of mitochondrial diseases

21 January 2018

1 reference

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10.1002/1096-8628(2001)9999:9999<::AID-AJMG1136>3.0.CO;2-X

21 January 2018

Identifiers

DOI

1 reference

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5 November 2019

1 reference