R. W. E. Watts

TL;DR: A patient with protein-losing gastroenteropathy and egg allergy has been shown to have a previously unrecognized organic aciduria,d-2-hydroxyglutarate dehydrogenase, consistent with an inherited metabolic disorder in the catabolism of 5-aminolaevulinate.

TL;DR: Screening for organic acidurias on the basis of the broad criteria which was originally specified is unproductive and not cost-effective and that screening should be confined to acutely ill neonates and young children who have been systematically evaluated biochemically by other means.

TL;DR: Two patients with Type 1 Gaucher's disease and major skeletal involvement with multiple fractures have been treated with the second generation bisphosphonate pamidronate for extensive periods and there was evidence of an immediate reduction in bone resorption, with increased calcium absorption, improved calcium balance and maintained or improved bone density indices in the axial and peripheral skeleton.

TL;DR: It is estimated that use of the protocol would allow the detection of about one-half of the known inborn errors of metabolism, including the aminoacidopathies, the organic acidurias, the hyperammonaemias, and several disorders of carbohydrate metabolism, many of which present acutely in the neonate and infant.

TL;DR: The mass spectra of the methyl-, ethyl- and benzyl-oxime trimethylsilyl ester derivatives of sixteen oxocarboxylic acids are reported and several applications where these derivatives have proved of value are presented.