Clinical, biochemical and enzymatic studies in @entity10076 associated with XXXX .

@entity1 @entity1032 @entity410 @entity1521 @entity10076 @entity2008
A severe @entity1032 @entity1 with @entity10076 associated with @entity2008 is reported. The @entity1 had a characteristic facial appearance of @entity10076 and suffered from @entity410 after the age of 10 months. The @entity1 developed severe @entity1032 . The karyotype of the @entity1 revealed partial duplication of the short arm in chromosome 10 using G banding techniques. The @entity1 and her mother showed a fasting @entity10076 and an abnormal clearance curve after the @entity1521 load in the serum. The @entity1521 oxidase activities of the liver tissues obtained by biopsy in the @entity1 was about 9% of those of controls. Kinetic studies and mixed experiments of the enzyme were with normal limits. Restriction of dietary @entity1521 at the age of 12 months revealed a prompt fall of the plasma levels of @entity1521 to the normal range, and a low @entity1521 diet was continued until the present time. During the period of dietary treatment, growth was satisfactory, but her mental development did not improve. From the developmental patterns of @entity1521 oxidase activities postnataldy, we speculated that restriction of dietary @entity1521 intake should be relieved with age.
