Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy

被引:14
作者
Diogo, L [1 ]
Fineza, I [1 ]
Canha, J [1 ]
Borges, L [1 ]
Cardoso, ML [1 ]
Vilarinho, L [1 ]
机构
[1] INST MED GENET,P-4000 OPORTO,PORTUGAL
关键词
D O I
10.1007/BF01799270
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:369 / 370
页数:2
相关论文
共 3 条
  • [1] L-2-HYDROXYGLUTARIC ACIDEMIA - CLINICAL AND BIOCHEMICAL FINDINGS IN 12 PATIENTS AND PRELIMINARY-REPORT ON L-2-HYDROXYACID DEHYDROGENASE
    BARTH, PG
    HOFFMANN, GF
    JAEKEN, J
    WANDERS, RJA
    DURAN, M
    JANSEN, GA
    JAKOBS, C
    LEHNERT, W
    HANEFELD, F
    VALK, J
    SCHUTGENS, RBH
    TREFZ, FK
    HARTUNG, HP
    CHAMOLES, NA
    SFAELLO, Z
    CARUSO, U
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (04) : 753 - 761
  • [2] L-2-HYDROXYGLUTARIC ACIDURIA - 2 FURTHER CASES
    DIVRY, P
    JAKOBS, C
    VIANEYSABAN, C
    GIBSON, KM
    MICHELAKAKIS, H
    PAPADIMITRIOU, A
    DIVARI, R
    CHABROL, B
    COURNELLE, MA
    LIVET, MO
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (03) : 505 - 507
  • [3] Duran M, 1980, J Inherit Metab Dis, V3, P109, DOI 10.1007/BF02312543