(Q71755034)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564251%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

DIDMOAD syndrome; further studies and muscle biochemistry (English)

1 reference

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21 October 2019

1

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21 October 2019

author name string

K Poulton

series ordinal

2

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21 October 2019

S Bundey

series ordinal

3

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21 October 2019

publication date

1 January 1995

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Journal of Inherited Metabolic Disease

21 October 2019

published in

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21 October 2019

volume

18

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21 October 2019

issue

2

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21 October 2019

page(s)

218-220

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https://scigraph.springernature.com/pub.10.1007/bf00711771

21 October 2019

exact match

0 references

cites work

Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients

1 reference

12 December 2020

Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.

1 reference

12 December 2020

Low leukocyte glutamate dehydrogenase activity does not correlate with a particular type of multiple system atrophy

1 reference

12 December 2020

Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD)

1 reference

12 December 2020

Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies

1 reference

12 December 2020

Mitochondrial abnormalities in the DIDMOAD syndrome

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12 December 2020

Leukocyte glutamate dehydrogenase activity in patients with degenerative neurological disorders

1 reference

12 December 2020

Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711771

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564251%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

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