(Q77199265)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11715003%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

title

Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11715003%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

author name string

L J Wong

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11715003%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

publication date

1 November 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11715003%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11715003%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

volume

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11715003%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11715003%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

page(s)

399-404

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11715003%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1097/00125817-200111000-00004

3 December 2019

exact match

0 references

cites work

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Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.

21 January 2018

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A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

21 January 2018

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Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome

21 January 2018

1 reference

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Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion

21 January 2018

1 reference

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Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease

21 January 2018

1 reference

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Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.

21 January 2018

1 reference

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Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome

21 January 2018

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Cyclic vomiting syndrome and mitochondrial DNA mutations

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The association between haematological manifestation and mtDNA deletions in Pearson syndrome

21 January 2018

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Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria

21 January 2018

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Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion.

21 January 2018

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Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome.

21 January 2018

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Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

21 January 2018

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New insights into the metabolic consequences of large-scale mtDNA deletions: a quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle

21 January 2018

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Yield of mtDNA mutation analysis in 2,000 patients

21 January 2018

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Fatal dilated cardiomyopathy associated with a mitochondrial DNA deletion

21 January 2018

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Kearns-Sayre syndrome with a novel mitochondrial DNA deletion

21 January 2018

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Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction

21 January 2018

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Unusual presentation of Kearns-Sayre syndrome in early childhood

21 January 2018

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Common deletion of mitochondrial DNA in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers

21 January 2018

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Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA

21 January 2018

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Progression in a case of Kearns-Sayre syndrome

21 January 2018

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A mitochondrial tRNA anticodon swap associated with a muscle disease

21 January 2018

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Detection of MELAS A3243G point mutation in muscle, blood and hair follicles

21 January 2018

1 reference

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Genotypic and phenotypic changes in exhaustively grown cell lines from mitochondrial cytopathy patients

21 January 2018

1 reference

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