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Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.

作者信息

Tsai M Y, Johnson D D, Sweetman L, Berry S A

机构信息

Department of Laboratory Medicine, University of Minnesota, Minneapolis.

出版信息

J Pediatr. 1989 Jul;115(1):110-3. doi: 10.1016/s0022-3476(89)80343-9.

DOI:10.1016/s0022-3476(89)80343-9
PMID:2738779
Abstract
摘要

相似文献

1
Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.
J Pediatr. 1989 Jul;115(1):110-3. doi: 10.1016/s0022-3476(89)80343-9.
2
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.
3
Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.
J Pediatr. 1992 Sep;121(3):407-10. doi: 10.1016/s0022-3476(05)81796-2.
4
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.
5
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。
J Inherit Metab Dis. 1995;18(5):643-5. doi: 10.1007/BF02436014.
6
Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia.
Pediatrics. 1993 Mar;91(3):664-6.
7
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.
8
Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin.与血浆和尿液生物素水平低于正常相关的生物素反应性羧化酶缺乏症
N Engl J Med. 1981 Apr 2;304(14):817-20. doi: 10.1056/NEJM198104023041404.
9
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.多种羧化酶缺乏症：新生儿生物素治疗后的临床及生化改善
Pediatrics. 1981 Jul;68(1):113-8.
10
3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase.
Clin Chim Acta. 1995 Aug 31;240(1):35-51. doi: 10.1016/0009-8981(95)06126-2.

引用本文的文献

1
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.人类3-甲基巴豆酰辅酶A羧化酶缺乏症的分子基础。
J Clin Invest. 2001 Feb;107(4):495-504. doi: 10.1172/JCI11948.
2
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.
3
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.3-甲基巴豆酰辅酶A羧化酶缺乏症中的3-羟基异戊酰肉碱。
J Inherit Metab Dis. 1995;18(5):592-601. doi: 10.1007/BF02436004.
4
Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.补充和未补充左旋肉碱的生物素缺乏大鼠的组织和体液中的酰基肉碱谱。
J Inherit Metab Dis. 1994;17(6):678-90. doi: 10.1007/BF00712010.
5
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.