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  • 1
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    Journal of the American Chemical Society 95 (1973), S. 3017-3018 
    ISSN: 1520-5126
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Zeitschrift für Lebensmittel-Untersuchung und -Forschung 204 (1997), S. 345-350 
    ISSN: 1431-4630
    Keywords: Key words Spinach (Spinacia oleracea) ; Chlorophyll ; Degradation ; HPLC
    Source: Springer Online Journal Archives 1860-2000
    Topics: Process Engineering, Biotechnology, Nutrition Technology
    Notes: Abstract  An HPLC procedure is described which enables both identification and quantitation of chlorophyll a and chlorophyll b and their major degradation products which can occur during solvent extraction of chloropigments from green plant leaves or during storage and canning of green vegetables. The method has been applied to visualize enzymatic as well as chemical degradation of chloropigments from spinach. Complex mixtures of phytyl esters of chlorophyllides, pheophorbides, pyrochlorophyllides, and pyropheophorbides and their respective hydrolysis products were separated, identified and quantitated in the presence of carotenoids in a process lasting less than 40 min.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Marine biology 68 (1982), S. 109-116 
    ISSN: 1432-1793
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Mytilus edulis collected from Tomales Bay, California, USA, during mid-winter 1979 were exposed to increased concentrations of dissolved copper under controlled laboratory conditions. A dose-dependent reduction in the latency of lysosomal hexosaminidase activity in digestive cells was induced after a 30 d exposure to copper. The half-time of the hexosaminidase staining reaction in sections of digestive gland from control mussels was 15.5 min; for mussels exposed to 25, 50, and 75 μg Cu l-1 it was 11.8, 8.5 and 5.5 min, respectively. In addition, the dyecoupled reaction product was seen earlier in sections from individuals exposed to 50 and 75 μg Cu l-1 (after 30 s) and 25 μg Cu l-1 (1 min) than in sections from control individuals (2.5 min). Copper accumulations were demonstrated histochemically to have the same distribution as the hexosaminidase reaction product, indicating that copper is sequestered in lysosomes. Copper concentrations in digestive gland tissue, were related to the concentrations of copper in the water to which the mussels were exposed.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Fresenius' journal of analytical chemistry 360 (1998), S. 830-832 
    ISSN: 1432-1130
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Notes: Abstract The incubation of 13-hydroperoxy-9Z,11E,15Z-octadecatrienoic acid (13-HPOT) with a hydroperoxide lyase containing extract of mung bean seedlings (Phaseolus radiatus L.) led not only to the formation of 2E-hexenal, but also to the generation of several non-volatile by-products (oxylipins). These oxylipins, generated by the catalysis of other 13-HPOT metabolizing enzymes, were analyzed by high performance liquid chromatography (HPLC) without time-comsuming derivatization procedures, which would be necessary for their volatilization and stabilization during gaschromatography (GC). Different detection systems such as an evaporative light-scattering detector (ELSD), diode-array detector (DAD), and particle beam-mass spectrometry (PB-MS) were applied. The utilization of an ELSD represented an improvement of sensitivity compared to a DAD, especially in the case of substances with low UV-activity.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The complete fumarylacetoacetate hydrolase (FAH) genotype of probands of thirteen unrelated families with hereditary tyrosinemia type 1 (HT 1) was established. The screening was performed by analysis of exons 2–14 of the FAH gene by using the polymerase chain reaction (PCR) and of the mRNA by reverse transcription/PCR. Nine different mutations were identified, of which six are novel. Three mutations involve consensus sequences for correct splicing, viz. IVS 6-1 (g-t), IVS 7-1 (g-a) and IVS 12+5 (g-a). Two missense mutations (C193R and G369V) and three nonsense mutations (R237X, E357X and E364X) were found. One silent mutation N232N was associated with the skipping of exon 8 from the FAH mRNA. Analysis of the effect of the respective mutations on the FAH mRNA showed a strong reduction of FAH mRNA levels in association with the nonsense mutations, and normal levels with the missense mutations. The splice consensus mutations give deletions of complete or small parts of exon sequences from the FAH mRNA. Data suggest a founder effect for several of the mutations, with a frequency for both the IVS 6-1 (g-t) and IVS 12+5 (g-a) mutations of approximately 30% in the HT 1 probands. No strict correlation between genotype and phenotype, i.e. the acute, subacute or chronic form of HT 1, was evident.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two members of the human zinc finger Krüppel family, ZNF 12 (KOX 3) and ZNF 26 (KOX 20), have been localized by somatic cell hybrid analysis and in situ chromosomal hybridization. The presence of individual human zinc finger genes in mouse-human hybrid DNAs was correlated with the presence of specific human chromosomes or regions of chromosomes in the corresponding cell hybrids. Analysis of such mouse-human hybrid DNAs allowed the assignment of the ZNF 12 (KOX 3) gene to chromosome region 7p. The ZNF 26 (KOX 20) gene segregated with chromosome region 12q13-qter. The zinc finger genes ZNF 12 (KOX 3) and ZNF 26 (KOX 20) were localized by in situ chromosomal hybridization to human chromosome regions 7p22-21 and 12q24.33, respectively. These genes and the previously mapped ZNF 24 (KOX 17) and ZNF 29 (KOX 26) genes, are found near fragile sites.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1076
    Keywords: Mevalonate kinase deficiency ; Mevalonic aciduria ; Heterozygote ; Autosomal-recessive inheritance ; Cholesterol bisoynthesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Family studies were carried out on the mother, the father and a sister, all of whom were clinically well. Mevalonate kinase activity in extracts of cultured skin fibroblasts and transformed lymphoblasts derived from the parents of the patient were 43%–52% of the mean control values. These data are consistent with an autosomal recessive mode of inheritance for mevalonate kinase deficiency.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1076
    Keywords: Diagnostic value ; Gliadin IgG, IgA, and IgE antibody determinations ; Coeliac disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The diagnostic value of gliadin IgG, IgA and IgE antibody (AB) determinations using the fluorescent immunosorbent test was examined in 586 children with malabsorptive disorders and/or failure to thrive. All patients underwent jejunal biopsy and were on a gluten-containing diet. IgG AB were found in all patients (331/331) with untreated coeliac disease (CD) in our study, but IgA AB in only 295/331 (89%). Therefore a screening test based only on IgA AB determinations is not recommended. By contrast, 203 (80%) of 255 children with other malabsorptive disorders had no gliadin AB, 43 (16.5%) had only IgG AB and only 9 (3.5%) had IgG and IgA AB. IgE AB proved to be of no additional value as a diagnostic tool because they were found in a quarter of the children without CD. Statistical evaluation of combined IgG and IgA AB determination showed at least 96% sensitivity and a specificity of 97%. The subjective (“Bayesian”) probability that an actual patient with a given AB test result has CD, is considered: a patient very probably has CD in the case of positive IgG and IgA AB, and no CD in the case of a negative AB result. In the case of negative IgA AB but positive IgG AB the physician's judgement (“prior probability”) influences the (“posterior”) probability of CD for an actual patient. In contrast to IgG AB, IgA AB decline rapidly after the introduction of a gluten-free diet and may be used for diet control after diagnosis. Antibodies against cow's milk proteins, though present in 72% of the 331 patients with CD, are of no therapeutic significance in CD and are of no value for its diagnosis.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1076
    Keywords: Liver glycogenosis ; Phosphorylase kinase ; Phosphorylase ; Longitudinal study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a longitudinal study of 41 patients with liver glycogenosis due to phosphorylase kinase deficiency. In their youth, patients displayed hepatomegaly (92%), growth retardation (68%), delayed motor development (52%), hypercholesterolaemia (76%), hypertriglyceridaemia (70%), elevation of glutamate pyruvate transaminase (56%) and fasting hyperketosis (44%). With age, these clinical and biochemical abnormalities gradually disappeared and most adult patients were asymptomatic.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 153 (1994), S. S27 
    ISSN: 1432-1076
    Keywords: Key words: Chromatographic methods – Amino acids – Organic acids – Purines/pyrimidines – Very long-chain fatty acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Selective screening for inherited metabolic disorders can be performed efficiently by chromatographic techniques. Each technique is suited for a well-defined group of substances present in urine, plasma and CSF. A comprehensive screening programme may involve the analysis of amino acids, organic acids, imidazoles, purines and pyrimidines, oligosaccharides and mucopolysaccharides in urine as well as very long-chain fatty acids in plasma. The experienced laboratory, in close co-operation with a specialized paediatrician, will make a positive diagnosis in 6% of the referred samples, provided a careful selection of the patients is made. Our experience of 10 years of screening revealed 100 different defects; 30% of these were so-called amino acid disorders, 50% organic acidurias and the remaining 20% miscellaneous defects. Chromatographic methods are well suited for the discovery of novel defects. In this respect group screening tests will remain of major importance for the study of inborn errors of metabolism.
    Type of Medium: Electronic Resource
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