(Q52059815)

20 April 2018

title

Myopathy with altered mitochondria due to a triosephosphate isomerase (TPI) deficiency. (English)

1 reference

20 April 2018

author name string

A Bardosi

1

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20 April 2018

S W Eber

2

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20 April 2018

M Hendrys

3

1 reference

20 April 2018

A Pekrun

4

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20 April 2018

publication date

1 January 1990

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20 April 2018

published in

Acta Neuropathologica

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20 April 2018

volume

79

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20 April 2018

page(s)

387-394

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20 April 2018

issue

4

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20 April 2018

https://scigraph.springernature.com/pub.10.1007/bf00308714

exact match

0 references

cites work

HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY

1 reference

12 December 2020

Hereditary deficiency of lactate dehydrogenase M-subunit

1 reference

12 December 2020

The isolation and characterization of the multiple forms of human skeletal muscle triosephosphate isomerase

1 reference

12 December 2020

Triosephosphate isomerase deficiency: haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity.

1 reference

12 December 2020

Hereditary deficiency of phosphoglycerate kinase: a new variant in erythrocytes and leucocytes, not associated with haemolytic anaemia

1 reference

12 December 2020

Triosephosphate isomerase deficiency. A case report with neuropathological findings.

1 reference

12 December 2020

Human Muscle Phosphoglycerate Mutase Deficiency: Newly Discovered Metabolic Myopathy

1 reference

12 December 2020

Ultrastructural and histochemical abnormalities of skeletal muscle in a patient with a new variant (type Homburg) of glucosephosphate isomerase (GPI) deficiency

1 reference

12 December 2020

Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.

1 reference

12 December 2020

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder

1 reference

12 December 2020

Triose phosphate isomerase deficiency: report of a family.

1 reference

12 December 2020

alpha-Glycerophosphate oxidase of flight muscle mitochondria

1 reference

12 December 2020

Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg).

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00308714

1 reference

20 April 2018

release_6c4s7z4fpva5zfg6rl5emnx2zq

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6c4s7z4fpva5zfg6rl5emnx2zq

24 November 2022

mapped directly with Wikidata item

PubMed ID

2339591

1 reference

20 April 2018