We have measured the bile acids in human serum as methyl ester-trimethylsilyl ethers by gas chromatography-mass spectrometry (GC-MS) using an electron ionization procedure. The overall method was validated and the detection limit (0.4 mumol/l), linearity (2-30 mumol/l), intra-day and inter-day precision, accuracy and recovery (96.2% for nor-23-deoxycholic acid as internal standard) were measure...

South African Journal of Occupational Therapy — Volume 43, Number 3, December 2013 36. Curran A & Jardine P. The Floppy Infant. Current Paediatrics,1998;8:37-42. 37. Walton JN. The Floppy Infant. Cerebral Palsy Bulletin,1960;2:10-18. 38. Lisi EC & Cohn RD. Genetic Evaluation Of The Pediatric Patient With Hypotonia: Perspective From A Hypotonia Specialty Clinic And Review Of The Literature. Deve...

The car1 gene of the filamentous fungus Podospora anserina was cloned by complementation of a mutant defective for caryogamy (nuclear fusion), a process required for sexual sporulation. This gene encodes a protein that shows similarity to the mammalian PAF1 protein (Zellweger syndrome). Besides sequence similarity, the two proteins share a transmembrane domain and the same type of zinc finger m...

Twin brothers were born with clinical symptoms indicating that they were suffering from Zellweger syndrome. However, instead of a generalized peroxisomal dysfunction, only very long-chain fatty acids and the pristanic acid/phytanic acid ratio were elevated in plasma and decreased oxidation of very long-chain fatty acids and pristanic acid was the only impairment found in fibroblasts. The other ...