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Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
British Library Online Contents | 1995| -
Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid
British Library Online Contents | 1993| -
Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluid by isotope-dilution gas chromatography/mass spectrometry
British Library Online Contents | 1993| -
Preliminary Evidence for a Cognitive Phenotype in Barth Syndrome
British Library Online Contents | 2001| -
A Novel Disease with Deficiency of Mitochondrial Very-Long-Chain Acyl-CoA Dehydrogenase
British Library Online Contents | 1993| -
Smith-Lemli-Opitz Syndrome: Prenatal Diagnosis by Quantification of Cholesterol Precursors in Amniotic Fluid
British Library Online Contents | 1995| -
Mouse Td^h^o abnormality results from double point mutations of the emopamil binding protein gene (Ebp)
British Library Online Contents | 2001| -
Temperature-dependence of the superconducting condensate and gap in Bi~2Sr~2Ca~1Cu~2O~8~+~x
British Library Conference Proceedings | 1994|
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