(Q66981316)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:521828%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

title

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:521828%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

main subject

mitochondrial myopathy

1 reference

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

23 June 2023

author

John A. Morgan-Hughes

1

object named as

J. A. Morgan-Hughes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A521828

23 June 2023

author name string

P. Darveniza

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A521828

23 June 2023

D. N. Landon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A521828

23 June 2023

J. M. Land

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A521828

23 June 2023

J. B. Clark

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A521828

23 June 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=521828

23 June 2023

publication date

1 September 1979

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:521828%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

1 September 2019

https://api.elsevier.com/content/article/PII:0022510X79900716?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

https://api.elsevier.com/content/article/PII:0022510X79900716?httpAccept=text/plain

23 June 2023

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Journal of the Neurological Sciences

23 June 2023

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:521828%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:521828%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:521828%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

page(s)

27-46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:521828%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

1

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase

23 June 2023

2

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Clinical Studies of a Patient With Pyruvate Decarboxylase Deficiency

23 June 2023

4

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

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

23 June 2023

5

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Further studies of mitochondrial and lipid storage myopathies

23 June 2023

7

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

New myopathy with mitochondrial enzyme hyperactivity. Histochemical demonstration

23 June 2023

8

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Fatal cases of lipid storage myopathy with carnitine deficiency

23 June 2023

9

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Carnitine-palmityl-transferase deficiency

23 June 2023

10

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Menkes' kinky-hair syndrome

23 June 2023

11

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case

23 June 2023

13

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Progressive ophthalmoplegia, glycogen storage, and abnormal mitochondria.

23 June 2023

16

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

23 June 2023

17

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case

23 June 2023

18

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Trichopoliodystrophy. I. Report of a case and biochemical studies

23 June 2023

19

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome

23 June 2023

20

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

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

23 June 2023

21

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Myopathy with abnormal structure and function of muscle mitochondria

23 June 2023

22

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

23 June 2023

Mitochondrial myopathies

23

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity

23 June 2023

24

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Protein measurement with the Folin phenol reagent

23 June 2023

25

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

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

23 June 2023

26

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Biochemical studies of skeletal muscle mitochondria. I. Microanalysis of cytochrome content, oxidative and phosphorylative activities of mammalian skeletal muscle mitochondria

23 June 2023

27

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Letter: A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness

23 June 2023

28

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Atypical muscle mitochondria in oculoskeletal myopathy

23 June 2023

29

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

23 June 2023

30

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

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

23 June 2023

33

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia

23 June 2023

34

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Pyruvate Dehydrogenase Phosphatase Deficiency: A Cause of Congenital Chronic Lactic Acidosis in Infancy

23 June 2023

36

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy

23 June 2023

37

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

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

23 June 2023

38

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Neuromuscular Disorder Associated With a Defect in Mitochondrial Energy Supply

23 June 2023

39

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

23 June 2023

40

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia

23 June 2023

42

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

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

23 June 2023

43

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

A new mitochondrial myopathy in a patient with salt craving.

23 June 2023

44

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

23 June 2023

45

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Myopathy with mitochondrial inclusion bodies: histological and metabolic studies

23 June 2023

46

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

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

23 June 2023

47

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Chronic lactic acidosis in association with myopathy

23 June 2023

48

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

23 June 2023

49

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Skeletal muscle disease with abnormal mitochondria

23 June 2023

50

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Menkes's steely hair syndrome

23 June 2023

51

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue

23 June 2023

52

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Effect of temperature on the spectral properties of some ferrocytochromes

23 June 2023

53

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

The cytochrome system of sea urchin sperm

23 June 2023

54

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 2. Biochemical findings

23 June 2023

55

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

23 June 2023

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:521828%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

1 reference