Lipid metabolism in biotin-responsive multiple carboxylase deficiency.

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作者信息

Gonzalez-Rios M C, Whitney S C, Williams M L, Elias P M, Packman S

出版信息

J Inherit Metab Dis. 1985;8(4):184-6. doi: 10.1007/BF01805432.

DOI:10.1007/BF01805432

PMID:2878112

Abstract

摘要

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Lipid metabolism in biotin-responsive multiple carboxylase deficiency.

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本文引用的文献

The neonatal form of biotin-responsive multiple carboxylase deficiency.

J Pediatr. 1981 Sep;99(3):418-20. doi: 10.1016/s0022-3476(81)80333-2.

Metabolic changes in scaly lesions of rat skin produced by essential fatty acid deficiency.必需脂肪酸缺乏所致大鼠皮肤鳞屑性病变中的代谢变化。

Tohoku J Exp Med. 1982 Nov;138(3):261-74. doi: 10.1620/tjem.138.261.

Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.来自一名生物素反应性多种羧化酶缺乏症患者的培养淋巴母细胞中全羧化酶合成酶活性缺陷的证据。

Am J Hum Genet. 1982 Jul;34(4):590-601.

Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis.角化异常疾病中的角质层脂质：隐性X连锁鱼鳞病患者角质层中硫酸胆固醇含量增加。

J Clin Invest. 1981 Dec;68(6):1404-10. doi: 10.1172/jci110391.

Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.

J Am Acad Dermatol. 1983 Jul;9(1):97-103. doi: 10.1016/s0190-9622(83)70113-1.

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.生物素酶缺乏症：迟发性多种羧化酶缺乏症中的酶缺陷。

Clin Chim Acta. 1983 Jul 15;131(3):273-81. doi: 10.1016/0009-8981(83)90096-7.

Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency.生物素反应性多种羧化酶缺乏症不同病因的生化证据。

Biochem Genet. 1982 Feb;20(1-2):17-28. doi: 10.1007/BF00484932.

Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.突变型全羧化酶合成酶：早期婴儿型生物素反应性多种羧化酶缺乏症中酶缺陷的证据。

J Clin Invest. 1981 Dec;68(6):1491-5. doi: 10.1172/jci110402.

Am J Hum Genet. 1984 Jan;36(1):80-92.

Prenatal treatment of biotin responsive multiple carboxylase deficiency.

Lancet. 1982 Jun 26;1(8287):1435-8. doi: 10.1016/s0140-6736(82)92452-7.

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