Literature DB >> 2846958

Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels.

A Federico1, G Baracchini, M T Dotti, L Ibba, A Malandrini, G Ciacci, M Meloni, S Palmeri, A Pompella, G C Guazzi.   

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Year:  1988        PMID： 2846958     DOI： 10.1007/bf01804229

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

1.  The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect.

Authors:  M J Bennett; R G Gray; D M Isherwood; N Murphy; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

2.  Multisystem neuronal degeneration, hepatosplenomegaly, and adrenocortical deficiency associated with reduced tissue arachidonic acid.

Authors:  P J Dyck; J K Yao; D E Knickerbocker; R T Holman; M R Gomez; A B Hayles; E H Lambert
Journal:  Neurology       Date:  1981-08       Impact factor: 9.910

3.  Lipid abnormalities in hereditary neuropathy. Part 2. Serum phospholipids.

Authors:  J K Yao; P J Dyck
Journal:  J Neurol Sci       Date:  1978-04       Impact factor: 3.181

4.  Effects of polyunsaturated fatty acid diets on plasma lipids of patients with adrenomultineuronal degeneration, hepatosplenomegaly and fatty acid derangement.

Authors:  J K Yao; K P Cannon; R T Holman; P J Dyck
Journal:  J Neurol Sci       Date:  1983-12       Impact factor: 3.181

5.  Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production.

Authors:  J Allgrove; G S Clayden; D B Grant; J C Macaulay
Journal:  Lancet       Date:  1978-06-17       Impact factor: 79.321

6.  Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.

Authors:  H W Moser; A B Moser; K K Frayer; W Chen; J D Schulman; B P O'Neill; Y Kishimoto
Journal:  Neurology       Date:  1981-10       Impact factor: 9.910

7.  Presence of plasma branched-chain fatty acids in multineuronal degeneration, hepatosplenomegaly and adrenocortical insufficiency.

Authors:  J K Yao; I Jardine; P J Dyck
Journal:  J Neurol Sci       Date:  1982-08       Impact factor: 3.181
  7 in total

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