Birth Disorder Information Directory - X List of Sites. Xanthoma Tuberosum See BroadBetalipoproteinemia. XanthomatosisCerebrotendinous (Cerebral Cholesterinosis, Sterol 27-Hydroxylase Deficiency) http://www.bdid.com/defectx.htm
Extractions: HOME X-Linked Lymphoproliferative Disease X-Linked Mental Retardation X-Linked Progressive Combined Variable Immunodeficiency X-Linked Severe Combined Immunodeficiency Xanthelasmoidea Xanthinuria (Xanthic Urolithiasis) Xanthoma Tuberosum Xanthomatosis Cerebrotendinous (Cerebral Cholesterinosis, Sterol 27-Hydroxylase Deficiency) Xeroderma with Talipes and Enamel Defects Xerodermic Idiocy of De Sanctic and Cacchione XK (Aprosencephaly) Syndrome (Aprosencephaly Syndrome, Aprosencephaly-Stelencephaly Syndrome, Atelencephalic Microcephaly Syndrome, Garcia Lurie Syndrome) XLP XTC Syndrome (Moynahan's Syndrome III, Xeroderma with Talipes and Enamel Defects) XX Male Syndrome XXY XY Gonadal Agenesis Syndrome Xylitol Dehydrogenase Deficiency
CNR-PFI UO FEDERICO Antonio CerebrotendinousXanthomatosis pathophysiological study on bone metabolism, J. Neurol. http://www.aging.cnr.it/uo/uo2_071.htm
Extractions: sottoprogetto Studio Epidemiologico Longitudinale linea Modificazioni del sistema nervoso durante l'invecchiamento e loro correlati patologici obiettivo Studi sperimentali e clinici sulla farmaco-cinetica, l'efficacia terapeutica e la valutazione degli effetti collaterali dei farmaci attivi sul sistema nervoso nell'anziano. Tema della ricerca Effetto collaterale di farmaci sul metabolismo mitocondriale. Studio in vitro su linee cellulari ed in vivo su popolazioni. Presenza di sintomi clinici minori negli eterozigoti per malattie neurogenetiche dismetaboliche. Parole chiave mitocondri lisosomi eterozigoti demenze mitochondria lysosomes carrier dementias note scientifiche: Si è contribuito alla migliore conoscenza delle basi patogenetiche e delle manifestazioni cliniche di alcune malattie neurometaboliche ad esordio tardivo.
List Of Tests Cholest 8(9) en3ß-ol (Chondrodysplasia Punctata). Cholestanol (Cerebrotendinousxanthomatosis). Sitosterol (Sitosterolemia, Phytosterolemia). http://www.genetics.kennedykrieger.org/TestList.htm
Extractions: If you wish to print all test forms at once please use the following link: All Forms Clinical Mass Spectrometry Section Organic acid gas chromatography/mass spectrometry N-acetyl-l-aspartic acid (Canavan disease) Canavan disease - prenatal diagnosis 3-Methylglutaconic acid ... Mevalonic Acid Peroxisomal Diseases Section Plasma Very Long Chain Fatty Acids: Includes Phytanic Acid (screening test for peroxisomal disorders) Red Blood Cell Plasmalogen Content (screening test for rhizomelic chondrodysplasia punctata) Plasma Total Lipid Fatty Acid Profile: Includes C8 to C26 saturated, monounsaturated, polyunsaturated, trans and branched chain fatty acids Red Blood Cell Total Lipid Fatty Acid Profile: Includes C8 to C26 saturated, monounsaturated, polyunsaturated fatty acids and plasmalogens ...
