(Q55846136)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4725145%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

title

A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4725145%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

1 reference

1 reference

1 reference

T. N. Hackett

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4725145

25 February 2023

P. F. Bray

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4725145

25 February 2023

F. A. Ziter

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4725145

25 February 2023

W. L. Nyhan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4725145

25 February 2023

K. M. Creer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4725145

25 February 2023

language of work or name

English

0 references

publication date

1 September 1973

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4725145%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

3 October 2019

https://api.elsevier.com/content/article/PII:S0022347673802665?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(73)80266-5

https://api.elsevier.com/content/article/PII:S0022347673802665?httpAccept=text/plain

25 February 2023

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(73)80266-5

The Journal of Pediatrics

25 February 2023

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4725145%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

volume

83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4725145%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

page(s)

426-431

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4725145%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4725145%20AND%20SRC:MED&resulttype=core&format=json

Familial Myopathy With Abnormal Muscle Mitochondria

3 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Abnormal resting blood lactate. I. The significance of hyperlactatemia in hospitalized patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Lactic dehydrogenase activity in blood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Myopathy with atypical mitochondria in type I skeletal muscle fibers. A histochemical and ultrastructural study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Skeletal muscle disease with abnormal mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Myopathy with abnormal structure and function of muscle mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

A new mitochondrial myopathy in a patient with salt craving.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Leigh's encephalomyelopathy: an inborn error of gluconeogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

FAMILIAL INFANTILE LACTIC ACIDOSIS.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Chronic lactic acidosis in an adult. A new syndrome associated with an altered redox state of certain NAD-NADH coupled reactions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Chronic lactic acidosis of infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Oculocraniosomatic neuromuscular disease with "ragged-red" fibers.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Aminoaciduria in progressive muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Urinary amino acids, creatinine and phosphate in muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Amino Acids of Plasma and Urine in Diseases of Muscle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980266-5

Mitochondrial ultrastructure with crystalloid inclusions in an unusual type of human myopathy

7 January 2021

15

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(73)80266-5

Familial chronic acidosis due to an error in lactate and pyruvate metabolism

25 February 2023

24

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(73)80266-5

25 February 2023

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4725145%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

1 reference