Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism

被引：9

作者：

Burlina, AB

Gibson, KM

Ruitenbeek, W

Bonafè, L

Bennett, MJ

机构：

[1] Univ Padua, Dept Pediat, I-35128 Padua, Italy

[2] Oregon Hlth Sci Univ, Biochem Genet Lab, Portland, OR 97201 USA

[3] Univ Nijmegen Hosp, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

[4] Univ Texas, SW Med Ctr, Dept Pediat, Dallas, TX USA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1998年 / 21卷 / 08期

关键词：

D O I：

10.1023/A:1005426920116

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：864 / 866

页数：3

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[3] Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency [J].

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[4]

Sweetman L., 1995, METABOLIC MOL BASES, V7th, P1387

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