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6 Result(s)

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  1. No Access

    Article

    A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

    Male to female sex reversal has been observed in individuals with duplications of the short arm of the X chromosome. Here we demonstrate that sex reversal results from the presence of two active copies of an X...

    B. Bardoni, E. Zanaria, S. Guioli, G. Floridia, K. C. Worley, G. Tonini… in Nature Genetics (1994)

  2. No Access

    Article

    The management of breast feeding among infants with phenylketonuria

    Treatment for phenylketonuria (PKU) involves using low phenylalanine or phenylalanine-free formulas and supplementation with sufficient phenylalanine for normal growth and development. Eighteen infants with ph...

    L. McCabe, A. E. Ernest, M. R. Neifert… in Journal of Inherited Metabolic Disease (1989)

  3. No Access

    Article

    Galactosaemia with fatal cerebral oedema

    B. Perelmuter, S. I. Goodman, E. R. B. McCabe in Journal of Inherited Metabolic Disease (1989)

  4. No Access

    Article

    Biochemical and nutritional status of children with hyperphenylalaninaemia

    A. M. Nord, L. McCabe, E. R. B. McCabe in Journal of Inherited Metabolic Disease (1988)

  5. No Access

    Article

    Human glycerol kinase deficiency: Enzyme kinetics and fibroblast hybridization

    Glycerol kinase deficiency has been associated with neuromuscular, skeletal and adrenal abnormalities and has also been seen in individuals without these clinical findings. Examination of residual enzyme activ...

    E. R. B. McCabe, D. Sadava, W. W. Bullen… in Journal of Inherited Metabolic Disease (1982)

  6. No Access

    Article

    Zinc status and growth of children undergoing treatment for phenylketonuria

    Children with phenylketonuria (PKU) are treated with semi-synthetic diets restricted in phenylalanine. Low-phenylalanine or phenylalanine-free formulae provide the majority of protein and energy in the diet wh...

    Dr. P. B. Acosta, P. M. Fernhoff, H. S. Warshaw… in Journal of Inherited Metabolic Disease (1982)