ABSTRACT: Acylcarnitine profiling from blood or plasma samples by electrospray tandem
mass spectrometry (ESI-MS/MS) has been recognized recently as a useful tool in the …

Metabolic profiling of amino acids and acylcarnitines from blood spots by automated electrospray
tandem mass spectrometry (ESI-MS/MS) is a powerful diagnostic tool for inborn errors …

Cultured mammalian cells have two primary mechanisms for obtaining energy necessary
for growth: carbohydrate metabolism to lactate and glutamine oxidation to CO2. In tissue …

Biotin-responsive basal ganglia disease (BBGD) is a recessive disorder with childhood onset
that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, …

We describe a novel, biotin-responsive basal ganglia disease in 10 patients. At onset, it
appears as a subacute encephalopathy, with confusion, dysarthria and dysphagia with …

Human diploid fibroblasts utilize both glucose and glutamine as energy sources. The utilization
of glutamine by fibroblasts is regulated by glucose, and vice versa. This conclusion is …

PURPOSE To identify a pattern of findings on CT or MR of the brain in glutaric acidemia type
I typical enough to permit a correct diagnosis. METHODS Clinical history and findings and …

PURPOSE To present the CT and MR findings in children with propionic and methylmalonic
acidemia. METHODS Twenty-three new patients with methylmalonic and 20 with propionic …

Human diploid fibroblasts metabolize up to 13% of the glutamine in tissue culture medium
to lactate. Four μCi of glutamine‐U‐ 14 C were added to media containing 5 mM or 65 μM …

For the past 30 years, neonatal screening programs have been performed largely by using
the bacterial inhibition assays developed by Dr Robert Guthrie. These programs focused on a …