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

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作者信息

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

机构信息

Centro per lo studio delle Encefalo-Neuro-Miopatie Genetiche, Università di Siena, Italy.

出版信息

J Inherit Metab Dis. 1988;11 Suppl 2:178-82. doi: 10.1007/BF01804229.

DOI:10.1007/BF01804229

PMID:2846958

Abstract

摘要

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

J Inherit Metab Dis. 1988;11 Suppl 2:178-82. doi: 10.1007/BF01804229.

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本文引用的文献

Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.肾上腺脑白质营养不良：血浆中饱和极长链脂肪酸含量增加。

Neurology. 1981 Oct;31(10):1241-9. doi: 10.1212/wnl.31.10.1241.

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

J Neurol Sci. 1982 Aug;55(2):185-95. doi: 10.1016/0022-510x(82)90100-9.

Effects of polyunsaturated fatty acid diets on plasma lipids of patients with adrenomultineuronal degeneration, hepatosplenomegaly and fatty acid derangement.多不饱和脂肪酸饮食对肾上腺多神经元变性、肝脾肿大和脂肪酸紊乱患者血脂的影响。

J Neurol Sci. 1983 Dec;62(1-3):67-75. doi: 10.1016/0022-510x(83)90190-9.

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

Neurology. 1981 Aug;31(8):925-34. doi: 10.1212/wnl.31.8.925.

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

J Inherit Metab Dis. 1985;8 Suppl 2:135-6. doi: 10.1007/BF01811496.

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

J Neurol Sci. 1978 Apr;36(2):224-36. doi: 10.1016/0022-510x(78)90083-7.

Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production.伴有贲门失弛缓症和泪液分泌不足的家族性糖皮质激素缺乏症。

Lancet. 1978 Jun 17;1(8077):1284-6. doi: 10.1016/s0140-6736(78)91268-0.

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