Further studies of mitochondrial and lipid storage myopathies (Q48214254)

9 February 2018

title

Further studies of mitochondrial and lipid storage myopathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A632830

17 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A632830

17 July 2022

1 reference

https://api.crossref.org/works/10.1016/0022-510X(78)90003-5

23 August 2023

author name string

W. G. Bradley

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A632830

17 July 2022

B. E. Tomlinson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A632830

17 July 2022

M. Hardy

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A632830

17 July 2022

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=632830

17 July 2022

publication date

1 February 1978

1 reference

9 February 2018

full work available at URL

https://api.elsevier.com/content/article/PII:0022510X78900035?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0022-510X(78)90003-5

https://api.elsevier.com/content/article/PII:0022510X78900035?httpAccept=text/plain

23 August 2023

1 reference

https://api.crossref.org/works/10.1016/0022-510X(78)90003-5

Journal of the Neurological Sciences

23 August 2023

published in

1 reference

9 February 2018

volume

35

1 reference

9 February 2018

issue

2-3

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9 February 2018

page(s)

201-210

1 reference

9 February 2018

Electron microscopic and enzyme histochemical studies of cerebellum, ocular and skeletal muscles in chronic progressive ophthalmoplegia with cerebellar ataxia

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Carnitine deficiency of skeletal muscle: report of a treated case

23 August 2023

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

23 August 2023

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

23 August 2023

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Clinical Studies of a Patient With Pyruvate Decarboxylase Deficiency

23 August 2023

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

23 August 2023

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Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney

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Myopathy associated with abnormal lipid metabolism in skeletal muscle

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A myopathy associated with lipid storage

23 August 2023

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Neutral-lipid storage disease: a new disorder of lipid metabolism

23 August 2023

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New myopathy with mitochondrial enzyme hyperactivity. Histochemical demonstration

23 August 2023

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"Ragged-red" fibers in Leigh's disease

23 August 2023

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Familial Myopathy With Abnormal Muscle Mitochondria

23 August 2023

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Spongiform encephalopathy with chronic progressive external ophthalmoplegia. Central ophthalmoplegia mimicking ocular myopathy

23 August 2023

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Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

23 August 2023

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Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia

23 August 2023

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

23 August 2023

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Lipid storage myopathy responsive to prednisone

23 August 2023

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A Skeletal-Muscle Disorder Associated with Intermittent Symptoms and a Possible Defect of Lipid Metabolism

23 August 2023

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A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. II. Ultrastructure

23 August 2023

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Chronic lactic acidosis of infancy

23 August 2023

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

23 August 2023

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Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia

23 August 2023

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Leigh's encephalomyelopathy: an inborn error of gluconeogenesis

23 August 2023

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Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 1. Clinical, electrophysiological and pathological findings

23 August 2023

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Myopathy with abnormal structure and function of muscle mitochondria

23 August 2023

31

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Weakness associated with the pathological presence of lipid in skeletal muscle: a detailed study of a patient with carnitine deficiencey

23 August 2023

32

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Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block

23 August 2023

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Lipid storage myopathy with normal carnitine levels

23 August 2023

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The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.).

23 August 2023

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The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin

23 August 2023

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The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features

23 August 2023

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Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

23 August 2023

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HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS

23 August 2023

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Hereditary abnormal muscle metabolism with hyperkinetic circulation during exercise

23 August 2023

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Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes

23 August 2023

42

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Oculocraniosomatic neuromuscular disease with "ragged-red" fibers

23 August 2023

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1 reference

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

23 August 2023

44

1 reference

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

23 August 2023

45

1 reference

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Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia

23 August 2023

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Progressive external ophthalmoplegia. Evidence for a generalised mitochondrial disease with a defect in pyruvate metabolism

23 August 2023

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Progressive ophthalmoplegia. Report of cases

23 August 2023

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Diagnosis of Leigh's disease questioned defended

23 August 2023

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

23 August 2023

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1 reference

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Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia

23 August 2023

53

1 reference

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

23 August 2023

54

1 reference

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A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics

23 August 2023

55

1 reference

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Letter: Inborn error of carnitine metabolism ("carnitine deficiency") in man

23 August 2023

56

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Myopathy with mitochondrial inclusion bodies: histological and metabolic studies

23 August 2023

57

1 reference

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

23 August 2023

58

1 reference

https://api.crossref.org/works/10.1016/0022-510X(78)90003-5

Chronic lactic acidosis in association with myopathy

23 August 2023

59

1 reference

https://api.crossref.org/works/10.1016/0022-510X(78)90003-5

Hereditary carnitine deficiency of muscle

23 August 2023

61

1 reference

https://api.crossref.org/works/10.1016/0022-510X(78)90003-5

Skeletal muscle disease with abnormal mitochondria

23 August 2023

62

1 reference

https://api.crossref.org/works/10.1016/0022-510X(78)90003-5

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

23 August 2023

63

1 reference

https://api.crossref.org/works/10.1016/0022-510X(78)90003-5

23 August 2023

Identifiers

1 reference

9 February 2018

1 reference

9 February 2018