TY  - GEN
AU  - Frézal,J
AU  - Amédée-Manesme,O
AU  - Mitchell,G
AU  - Heuertz,S
AU  - Rey,F
AU  - Rey,J
AU  - Saudubray,J M
TI  - Maple syrup urine disease: two different forms within a single family
SN  - 0340-6717
PY  - 1985///1017
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Decarboxylation
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Genetic Variation
KW  - Heterozygote
KW  - Humans
KW  - Leucine
KW  - Male
KW  - Maple Syrup Urine Disease
KW  - genetics
KW  - Pedigree
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/BF00295676
ER  -