Zobrazeno 1 - 10
of 41
pro vyhledávání: '"D E, Hale"'
Publikováno v:
The Journal of clinical endocrinology and metabolism. 85(12)
The objective of this study was to assess the spectrum of growth abnormalities in children with 18q deletions. The growth axis of 50 individuals with a cytogenetically and molecularly confirmed 18q deletion was investigated by determining height, gro
Autor:
J D, Cody, P D, Ghidoni, B R, DuPont, D E, Hale, S G, Hilsenbeck, R F, Stratton, D S, Hoffman, S, Muller, R L, Schaub, R J, Leach, C I, Kaye
Publikováno v:
American journal of medical genetics. 85(5)
Deletions of chromosome 18q are among the most common segmental aneusomies compatible with life. The estimated frequency is approximately 1/40,000 live births [Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. 1997. Am. J. Med.
Stability of long-chain and short-chain 3-hydroxyacyl-CoA dehydrogenase activity in postmortem liver
Publikováno v:
Clinical chemistry. 43(2)
Inherited enzyme defects in mitochondrial fatty acid oxidation (FAO) are associated with acute metabolic crisis and sudden death. Necropsy findings may be subtle, yielding no diagnosis and precluding genetic counseling. Preliminary identification of
Autor:
W R, Treem, M E, Shoup, D E, Hale, M J, Bennett, P, Rinaldo, D S, Millington, C A, Stanley, C A, Riely, J S, Hyams
Publikováno v:
The American journal of gastroenterology. 91(11)
The similarity of the hepatic pathology in acute fatty liver of pregnancy (AFLP) to that seen in children with inherited disorders of intramitochondrial fatty acid oxidation (FAO) suggests that there may be a genetic basis for some cases of AFLP.The
Autor:
M J, Bennett, D E, Hale
Publikováno v:
New Jersey medicine : the journal of the Medical Society of New Jersey. 89(9)
Medium chain acyl-coenzyme A dehydrogenase deficiency (MCADD) was the first metabolic disorder found to be associated with sudden infant death syndrome. This review covers recent advances in the biochemical and molecular understanding of MCADD.
Publikováno v:
The New England journal of medicine. 327(1)
Publikováno v:
Clinical chemistry. 38(2)
Urinary excretion of 3-phenylpropionylglycine (PPG) is a diagnostic marker for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. PPG is derived from 3-phenylpropionic acid (PPA), a product of anaerobic bacterial metabolism in the gut. To determi
Publikováno v:
Progress in clinical and biological research. 375
Publikováno v:
Progress in clinical and biological research. 375
Publikováno v:
American journal of human genetics. 49(6)
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty-acid oxidation that is characterized by fasting intolerance and recurrent episodes of hypoglycemic coma which can be fatal. Its incidence is one of the highest among ge