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Literature DB >> 8006665

X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.

C R Kennedy¹, J T Allen, A H Fensom, S J Steinberg, R Wilson.

Abstract

Measurement of plasma very long chain fatty acids is widely recognised as a sensitive screening test for X-linked adrenoleukodystrophy (X-ALD). This test has particular importance because of the highly variable clinical expression of X-ALD. In this affected family the progressive childhood form of X-ALD was accompanied by "non-diagnostic" concentrations of plasma very long chain fatty acids. The implications for diagnosis of X-ALD are discussed.

Entities: Chemical Disease

Mesh：

Substances：
Fatty Acids

Year: 1994 PMID： 8006665 PMCID： PMC1072989 DOI： 10.1136/jnnp.57.6.759

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

6 in total

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Authors: H H Schaumburg; J M Powers; C S Raine; K Suzuki; E P Richardson
Journal: Arch Neurol Date: 1975-09

2. Adreno-leukodystrophy. Similar ultrastructural changes in adrenal cortical and Schwann cells.

Authors: J M Powers; H H Schaumberg
Journal: Arch Neurol Date: 1974-05

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Authors: H W Moser; A B Moser; K D Smith; A Bergin; J Borel; J Shankroff; O C Stine; C Merette; J Ott; W Krivit
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

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Authors: H W Moser; A B Moser; N Kawamura; J Murphy; K Suzuki; H Schaumburg; Y Kishimoto
Journal: Ann Neurol Date: 1980-06 Impact factor: 10.422

5. Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.

Authors: H W Moser; A E Moser; I Singh; B P O'Neill
Journal: Ann Neurol Date: 1984-12 Impact factor: 10.422

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

6 in total

7 in total

Review 1. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.

Authors: B M van Geel; J Assies; R J Wanders; P G Barth
Journal: J Neurol Neurosurg Psychiatry Date: 1997-07 Impact factor: 10.154

2. A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation.

Authors: H Osaka; H Sekiguchi; K Inoue; K Ikuta; Y Sakakihara; A Oka; H Onishi; T Miyakawa; K Suzuki; S Kimura; K Kosaka; S Matsuyama
Journal: J Inherit Metab Dis Date: 1998-04 Impact factor: 4.982

3. Measurement of plasma very long-chain fatty acids as a preliminary screening procedure for the diagnosis of peroxisomal disorders.

Authors: S J Steinberg; A H Fensom; N R Dalton; P A Toseland; C R Kennedy; A P Mowat
Journal: J Inherit Metab Dis Date: 1994 Impact factor: 4.982