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Hypersarcosinemia: an inborn error of metabolism.
The identification of homocystine in the urine.
TLDR
During biochemical investigations of children with congenital anomalies, mental retardation and failure to thrive, several significant abnormalities in the pattern of the sulfur amino acid excretion were observed in a one year old male infant. Expand
On the isolation and identification of homocitrulline from urine.
Metabolism of Glycine in the Nonketotic Form of Hyperglycinemia
TLDR
The data obtained indicate that patients with nonketotic hyperglycinemia are unable in vivo to convert the first carbon of glycine directly to CO2 and the second carbon of glucose to the third carbon of serine, consistent with a genetic defect in an enzyme which catalyzes decarboxylation and formation of hydroxymethyltetrahydrofolate from glycine. Expand
α-Aminoadipic aciduria, a non-deleterious inborn metabolic defect
SummaryA new inborn defect of amino acid metabolism, α-aminoadipic aciduria, which is probably situated in the metabolic breakdown pathway of lysine, is reported in 2 brothers. One of them was ofExpand
On the determination of free amino acids in serum
Abstract A method for the determination of the free amino acids in serum and tissue extracts, in which only a small part of the soluble protein is removed before analysis, was shown to give reliableExpand
Identification of N-acylglycines by gas-liquid chromatography.
TLDR
Glycine conjugates of aliphatic carboxylic acids of clinical interest, and a series of structurally related compounds, were synthesized and the methylene unit values of the trimethylsilyl derivatives of these N-acylglycines are reported. Expand
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