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  • 1
    Electronic Resource
    Electronic Resource
    Cerebral abnormalities in thanatophoric dysplasia (1991)
    Springer
    Child's nervous system 7 (1991), S. 21-26 
    Details
    ISSN: 1433-0350
    Keywords: Thanatophoric dysplasia ; Dwarfism ; Chondrodystrophy ; Cerebral anomalies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Neuropathologic evaluation of two infants with thanatophoric dysplasra displayed typical gross morphologic characteristics and a distinct pattern of brain malformations, including anomalies of the temporal lobe gyri and hippocampus, neuroglial heterotopias, fiber tract hypoplasia, and dysplasia of deep nuclei. Increased numbers of horizontal cells of Cajal-Retzius were striking in frequency and distrbution. The pattern of abnormalities suggests arrest of cerebral cortical ontogeny late in development. As with the mucopolysaccharidoses, a shared common metabolic pathway is a potential mechanism for development of widespread bony and somatic abnormalities and associated central nervous system anomalies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00263828
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Einbau von15N-Glyzin in VLDL und LDL: In-vivo-Synthese von Apolipoprotein B beim Menschen postabsorptiv und im Fastenzustand (1989)
    Springer
    Journal of molecular medicine 67 (1989), S. 280-285 
    Details
    ISSN: 1432-1440
    Keywords: 15N-Glycine ; Apolipoprotein-B-Synthesis ; Low density lipoprotein ; Very low density lipoprotein
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In vivo synthesis of apolipoprotein B 100 (ApoB) was recently determined in man using stable isotopes. With this procedure we analyzed (1) the effect of fasting on synthesis of ApoB from very low density lipoprotein (VLDL) and (2) tracer enrichment in low density lipoprotein (LDL). After a 36-hour fasting period and in the post-absorptive state 4 healthy subjects were given a priming dose (8.7 µmol/kg) of15N glycine followed by a constant infusion (10 µmol/kg/h for 8 h) to achieve 5% tracer enrichment in the plasma pool of glycine. The K-values, i.e. fractional synthetic rates/hr of ApoB from VLDL were 0.53±0.26 vs. 0.43±0.16 (p〉0.05). Tracer enrichment in ApoB from LDL at the end of the infusions was 0.19% vs. 1.46% in ApoB from VLDL. The results indicate that (1) in young healthy postabsorptive individuals about 40% of ApoB from VLDL in plasma is synthesized per hour, (2) fasting does not materially affect fractional ApoB synthesis and (3) at 5%15N enrichment in plasma glycine, tracer enrichment in ApoB from LDL is at the lower limit of detection for the procedure employed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01892895
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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