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Molecular basis of 3-hydroxy-3-methylglutaric aciduria

✍ Scribed by J. Pie; N. Casals; B. Puisac; F. G. Hegardt


Publisher
Springer
Year
2003
Tongue
English
Weight
857 KB
Volume
59
Category
Article
ISSN
1138-7548

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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