雷夫叙姆病（多神经炎型遗传性共济失调）：一种脂质代谢先天性缺陷伴3,7,11,15 - 四甲基十六烷酸蓄积。病例报告一。 - Suppr

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超能文献

REFSUM'S DISEASE (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. I. REPORT OF A CASE.

作者信息

RICHTERICH R, VANMECHELEN P, ROSSI E

出版信息

Am J Med. 1965 Aug;39:230-6. doi: 10.1016/0002-9343(65)90046-x.

DOI:10.1016/0002-9343(65)90046-x

PMID:14320689

Abstract

摘要

相似文献

REFSUM'S DISEASE (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. I. REPORT OF A CASE.

Am J Med. 1965 Aug;39:230-6. doi: 10.1016/0002-9343(65)90046-x.

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REFSUM'S DISEASE (HERECOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. II. ISOLATION AND IDENTIFICATION OF THE STORAGE PRODUCT.

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Refsum's disease (heredopathia atactica polyneuritiformis). An inborn error of lipid metabolism with storage of 3,7,11,15 tetramethyl hexadecanoic acid. A review of the clinical findings.

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Arch Neurol. 1981 Oct;38(10):605-6. doi: 10.1001/archneur.1981.00510100033003.

引用本文的文献

The Genetic Basis of the Hereditary Ataxias.

J R Coll Physicians Lond. 1969 Oct;4(1):88-92.

Patterns of Refsum's disease. Phytanic acid oxidase deficiency.

Arch Dis Child. 1984 Mar;59(3):222-9. doi: 10.1136/adc.59.3.222.

Refsum's syndrome: report of three cases.

J Neurol Neurosurg Psychiatry. 1970 Dec;33(6):817-23. doi: 10.1136/jnnp.33.6.817.

[Diagnosis and differential diagnosis of heredopathia atactica polyneuritiformis].

Dtsch Z Nervenheilkd. 1969;195(4):257-62.

Refsum's disease: characterization of the enzyme defect in cell culture.

J Clin Invest. 1969 Jun;48(6):1017-32. doi: 10.1172/JCI106058.

[Lipid studies in organs of a child with Refsum's syndrome].

Klin Wochenschr. 1966 Sep 15;44(18):1089-92. doi: 10.1007/BF01716312.

Natural history of Refsum's syndrome in a Gloucestershire family.

Br Med J. 1967 Sep 23;3(5568):777-9. doi: 10.1136/bmj.3.5568.777.

Phytanic acid in Refsum's syndrome.

J Neurol Neurosurg Psychiatry. 1966 Oct;29(5):412-6. doi: 10.1136/jnnp.29.5.412.

Refsum's disease: a disorder of lipid metabolism.

J Neurol Neurosurg Psychiatry. 1966 Oct;29(5):417-22. doi: 10.1136/jnnp.29.5.417.

Refsum's disease (heredopathia atactica polyneuritiformis). An inborn error of lipid metabolism with storage of 3,7,11,15 tetramethyl hexadecanoic acid. A review of the clinical findings.

Humangenetik. 1965;1(4):322-32. doi: 10.1007/BF00273974.

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