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3-Hydroxy-3-methylglutaric aciduria in Portuguese population

✍ Scribed by L. Vilarinho; M. L. Cardoso; D. Rabier; M. O. Rolland


Publisher
Springer
Year
1993
Tongue
English
Weight
129 KB
Volume
16
Category
Article
ISSN
0141-8955

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A 4-month-old infant with hypotonia and macrocephaly was diagnosed as having 3-hydroxy-3-methylglutaric aciduria, using gas chromatography and mass spectrometry and confirmatory enzyme studies. The same diagnosis was made on his asymptomatic non-identical twin. Examination of the pedigree is consist