Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria
✍ Scribed by E. Pospíšilová; L. Mrázová; J. Hrdá; O. Martincová; J. Zeman
- Book ID
- 111548803
- Publisher
- Springer
- Year
- 2003
- Tongue
- English
- Weight
- 112 KB
- Volume
- 26
- 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
A girl suffering from marked muscular hypotonia, severe statomotor and mental retardation, bilateral optic atrophy with chorioretinal degeneration, convulsions and a moderate compensated metabolic acidosis is described. Screening for metabolic disorders revealed massive 3-methylglutaconic with 3meth