Literature DB >> 7073250

Evidence for autosomal recessive inheritance in systemic carnitine deficiency.

S Di Donato, M Rimoldi, F Cornelio, E Bottacchi, A Giunta.   

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Year:  1982        PMID： 7073250     DOI： 10.1002/ana.410110214

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  5 in total

1.  Familial carnitine deficiency: further evidence for autosomal recessive transmission with variable expression.

Authors:  E Shahar; N Brand; Y Shapira; V Barash; A Gutman
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-02       Impact factor: 10.154

2.  Carnitine metabolism and inborn errors.

Authors:  A G Engel; C J Rebouche
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

Review 3.  l-Carnitine. A preliminary review of its pharmacokinetics, and its therapeutic use in ischaemic cardiac disease and primary and secondary carnitine deficiencies in relationship to its role in fatty acid metabolism.

Authors:  K L Goa; R N Brogden
Journal:  Drugs       Date:  1987-07       Impact factor: 9.546

4.  [Serum levels and urine excretion of L-carnitine in patients with normal and impaired kidney function].

Authors:  M Leschke; K W Rumpf; T Eisenhauer; K Becker; U Bock; F Scheler
Journal:  Klin Wochenschr       Date:  1984-03-15

5.  Myopathies due to enzyme deficiencies.

Authors:  F Cornelio; S Di Donato
Journal:  J Neurol       Date:  1985       Impact factor: 4.849
  5 in total

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