以危及生命的低血糖症为表现的孤立性生物素抵抗性3-甲基巴豆酰辅酶A羧化酶缺乏症。 - Suppr

Suppr

超能文献

Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.

作者信息

Bartlett K, Bennett M J, Hill R P, Lashford L S, Pollitt R J, Worth H G

出版信息

J Inherit Metab Dis. 1984;7(4):182. doi: 10.1007/BF01805608.

DOI:10.1007/BF01805608

PMID:6441868

Abstract

摘要

相似文献

Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.以危及生命的低血糖症为表现的孤立性生物素抵抗性3-甲基巴豆酰辅酶A羧化酶缺乏症。

J Inherit Metab Dis. 1984;7(4):182. doi: 10.1007/BF01805608.

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.两名同胞中出现的孤立性生物素抵抗性3-甲基巴豆酰辅酶A羧化酶缺乏症。

Eur J Pediatr. 1982 Jul;138(4):351-4. doi: 10.1007/BF00442517.

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Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.孤立性3-甲基巴豆酰辅酶A羧化酶缺乏症中的严重低血糖症；一种罕见的严重临床表现。

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Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.孤立性（生物素抵抗性）3-甲基巴豆酰辅酶A羧化酶缺乏症：4名无病理表现的同胞。

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Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome.

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Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.3-甲基巴豆酰辅酶A羧化酶（3-MCC）缺乏症病例的结局——来自遗传代谢病信息系统的报告

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Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.孤立性生物素抵抗型3-甲基巴豆酰辅酶A羧化酶缺乏症：1例新生儿起病患者的长期预后

Eur J Pediatr. 1996 Jul;155(7):568-72. doi: 10.1007/BF01957906.

Enzyme studies in biotin-responsive disorders.生物素反应性疾病中的酶学研究。

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Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness.

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Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome.

J Inherit Metab Dis. 1992;15(6):863-8. doi: 10.1007/BF01800223.

本文引用的文献

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.两名同胞中出现的孤立性生物素抵抗性3-甲基巴豆酰辅酶A羧化酶缺乏症。

Eur J Pediatr. 1982 Jul;138(4):351-4. doi: 10.1007/BF00442517.

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