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Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey
SummaryEvery newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many ofExpand
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Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis
REFERENCES Irrevere, F., Mudd, S. H., Heizer, W. D. and Laster, L. Sulfite oxidase deficiency: studies of a patient with mental retardation, dislocated ocular lenses and abnormal urinary excretion ofExpand
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Medium-chain triglycerides: a pitfall in the assay of organic acids in cerebrospinal fluid
Some inborn errors of metabolism have been incriminated in the sudden infant death syndrome (SIDS). Urinary organic acid analysis is the most useful test to exclude a great number of inborn errors ofExpand
Organic acids in aqueous humour and plasma: Post mortem study in infants and diagnosis of enzymopathies
SummaryOrganic acids have been determined in aqueous humour and plasma by gas chromatography-mass spectrometry in 38 cases of infant death and 4 cases of inherited metabolic disease: one had aExpand
A new case of methylmalonic aciduria with unexplained negative urinary methylmalonic colorimetric test
upper limit of a 95% range. These increases were probably due to failure of the mother to metabolize hyp and xan transferred from the fetus. Xanthine oxidase deficiency is rare. We screened 47 420Expand