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  1. No Access

    Article

    Developmental expression of hexokinase 1 and 3 in rats

     Mammalian hexokinase types one and three (HK1 and HK3) are 100 kDa isozymes that phosphorylate glucose to glucose-6-phosphate. HK1 is present in most tissues but is especially prominent in brain and kidney. H...

    Katherine A. Coerver, S. M. Gray, James E. Barnes… in Histochemistry and Cell Biology (1997)

  2. 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)

  3. No Access

    Article

    DNA techniques for screening of inborn errors of metabolism

    Molecular genetic techniques are being used increasingly in newborn screening programs. Initial applications involved genotypic confirmation of positive screening tests by DNA microextraction or direct amplifi...

    E. R. B. McCabe in European Journal of Pediatrics (1994)

  4. No Access

    Chapter and Conference Paper

    Role of Porin-Kinase Interactions in Disease

    Hexokinase (ATP: D-hexose 6-phosphotransferase, EC2.7.1.1) and glycerol kinase (ATP: glycerol phosphotransferase, EC2.7.1.30) catalyze the phosphorylation of their respective hexose and triose substrates in or...

    V. Adams, E. R. B. McCabe in Molecular Biology of Mitochondrial Transport Systems (1994)

  5. 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)

  6. No Access

    Article

    Galactosaemia with fatal cerebral oedema

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

  7. 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)

  8. No Access

    Article

    Infantile glycerol kinase deficiency— a condition requiring prompt identification

    Infantile glycerol kinase deficiency (GKD) is an X-linked genetic disease characterized clinically by adrenal insufficiency and muscular dystrophy. The enzyme defect leads to increased levels of glycerol in bl...

    A. Kohlschütter, H. P. Willig, D. Schlamp, K. Kruse… in European Journal of Pediatrics (1987)

  9. Article

    AN AFFECTED FEMALE CARRIER OF DUCHENNE MUSCULAR DYSTROPHY WITH ASSOCIATED MITRAL VALVE PROLAPSE

    Mitral valve prolapse (MVP), cardiomyopathy (CM), and conduction disturbances have been associated with Duchenne muscular dystrophy (DMD), This X-linked disorder characteristically manifests symptoms in males ...

    J Towbin, E R B McCabe, J F Hejtmancik, D G McNamara, C T Caskey in Pediatric Research (1987)

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  10. Article

    THE EFFECTS OF PROPIONIC ACIDEMIA ON HEMATOPOIESIS

    We evaluated hematopoiesis in a 1 month-old infant with propionic acidemia who presented with pancytopenia. Her bone marrow (BM) showed dysmyelopoiesis and maturation arrest of all cell lines. Numerous mono- a...

    L C Stork, D R Ambruso, S F Wallner, J E Sambrano, E R B McCabe in Pediatric Research (1984)

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  11. Article

    MEASUREMENT OF 2, 3-DIPHOSPBOGLYCERATE (2, 3-DPG) AND ADENOSINE TRIPHOSPHATE (ATP) IN STORED BLOOD BY 31P NUCLEAR MAGNETIC RESONANCE (NMR) SPECTROSCOPY

    Adequate levels of ATP and 2,3-DPG in stored blood are important for in vivo survival and oxygen transport of red blood cells after transfusion. 31P NMR spectroscopy allows noninvasive measurement of these compou...

    D R Ambruso, B Hawkins, D L Johnson, A R Fritzberg… in Pediatric Research (1984)

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  12. 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)

  13. 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)