(Q39764040)

14 September 2017

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title

Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency (English)

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14 September 2017

1

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14 September 2017

Trevisan C

2

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14 September 2017

Isaya G

series ordinal

3

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14 September 2017

Pegolo G

series ordinal

4

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14 September 2017

Vergani L

series ordinal

5

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14 September 2017

publication date

1 February 1987

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14 September 2017

published in

Clinical Biochemistry

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14 September 2017

volume

20

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14 September 2017

issue

1

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14 September 2017

page(s)

1-7

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

14 September 2017

cites work

1 reference

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Carnitine deficiency of skeletal muscle: report of a treated case

7 January 2021

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A case of lipid storage myopathy with carnitine deficiency. Biochemical and electromyographic correlations

7 January 2021

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Hereditary carnitine deficiency of muscle

7 January 2021

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Carnitine deficiency: acute postpartum crisis

7 January 2021

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Muscle carnitine deficiency and fatal cardiomyopathy

7 January 2021

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Nearly fatal muscle carnitine deficiency with full recovery after replacement therapy

7 January 2021

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Muscle carnitine deficiency: fatty acid metabolism in cultured fibroblasts and muscle cells

7 January 2021

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[Carnitine deficiency myopathy (author's transl)]

7 January 2021

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Further studies of mitochondrial and lipid storage myopathies

7 January 2021

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

7 January 2021

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

7 January 2021

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Fatal cases of lipid storage myopathy with carnitine deficiency

7 January 2021

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

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome

7 January 2021

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Evidence for autosomal recessive inheritance in systemic carnitine deficiency

7 January 2021

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Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy

7 January 2021

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Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport

7 January 2021

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Systemic carnitine deficiency: benefit of oral carnitine supplements vs. persisting biochemical abnormalities.

7 January 2021

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Familial carnitine deficiency. A fatal case and subclinical state in a sister

7 January 2021

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Carnitine deficiency, organic acidemias, and Reye's syndrome

7 January 2021

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Renal handling of free and acylcarnitine in secondary carnitine deficiency

7 January 2021

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Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

7 January 2021

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Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

7 January 2021

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L-carnitine therapy in propionicacidaemia

7 January 2021

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Hypocarnitinemia in disorders of organic acid metabolism

7 January 2021

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Deficiency of carnitine in cachectic cirrhotic patients

7 January 2021

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Carnitine deficiency induced during intermittent haemodialysis for renal failure

7 January 2021

1 reference

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Plasma carnitine in pregnancy

7 January 2021

1 reference

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Urinary carnitine excretion in surgical patients on total parenteral nutrition

7 January 2021

1 reference

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The relationship between serum carnitine levels and the nutritional status of patients with schistosomiasis

7 January 2021

1 reference

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Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2887%2980090-5

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

7 January 2021

1 reference

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Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2887%2980090-5

Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2887%2980090-5

Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2887%2980090-5

10.1016/S0009-9120(87)80090-5

7 January 2021

Identifiers

DOI

1 reference

14 September 2017

1 reference