(Q72969677)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8387612%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

title

Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders (English)

1 reference

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30 October 2019

author name string

I Tein

1

1 reference

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30 October 2019

D C De Vivo

2

1 reference

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30 October 2019

D Ranucci

3

1 reference

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30 October 2019

S DiMauro

4

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30 October 2019

publication date

1 January 1993

1 reference

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Journal of Inherited Metabolic Disease

30 October 2019

published in

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30 October 2019

volume

16

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30 October 2019

issue

1

1 reference

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30 October 2019

page(s)

135-146

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https://scigraph.springernature.com/pub.10.1007/bf00711327

30 October 2019

exact match

0 references

cites work

An improved and simplified radioisotopic assay for the determination of free and esterified carnitine

1 reference

12 December 2020

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

1 reference

12 December 2020

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle

1 reference

12 December 2020

Electron transfer flavoprotein from pig liver mitochondria. A simple purification and re-evaluation of some of the molecular properties

1 reference

12 December 2020

Carnitine metabolism and deficiency syndromes

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts

1 reference

12 December 2020

Ipsi- and contralateral fibre transformations by cross-reinnervation. A principle of symmetry.

1 reference

12 December 2020

Short-chainL-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy

1 reference

12 December 2020

Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy

1 reference

12 December 2020

On the rate-determining step of fatty acid oxidation in heart. Inhibition of fatty acid oxidation by 4-pentenoic acid

1 reference

12 December 2020

Long Chain Enoyl Coenzyme A Hydratase from Pig Heart

1 reference

12 December 2020

Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts

1 reference

12 December 2020

Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency

1 reference

12 December 2020

Carnitine deficiency induced by pivampicillin and pivmecillinam therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic defects of acyl-CoA dehydrogenases: studies using an electron transfer flavoprotein reduction assay

1 reference

12 December 2020

Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness

1 reference

12 December 2020

Carnitine--metabolism and functions

1 reference

12 December 2020

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

1 reference

12 December 2020

New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency

1 reference

12 December 2020

Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency

1 reference

12 December 2020

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

1 reference

12 December 2020

Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

1 reference

12 December 2020

Familial systemic carnitine deficiency

1 reference

12 December 2020

Primary systemic carnitine deficiency. II. Renal handling of carnitine

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

1 reference

12 December 2020

Systemic carnitine deficiency simulating Reye syndrome

1 reference

12 December 2020

Sodium gradient-stimulated transport of L-carnitine into renal brush border membrane vesicles: kinetics, specificity, and regulation by dietary carnitine

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711327

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8387612%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

1 reference