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  • 1
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of neurochemistry 27 (1976), S. 0 
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract— Endogenous rat brain folates were identified using column chromatography for folate separation, authentic folate standards, and microbiological assay. The total folate content of rat brain was 360 ng per gram brain (wet wt) and consisted of tetrahydropteroylpentaglutamate (H4 PteGlu5, 29%), H4 PteGlu6 (14%), H4PteGlu7 (7%), 5-CH3-H4PteGlu4 (7%), 5-CH3-H4PteGlu5 (13%), and small amounts of formyl-, methyl-, and H4PteGlu1-6 (~25%) and non-methylated folates having a glutamate chain over seven glutamates long (4%). Overall folate oxidation state and one carbon forms were H4PteGlun (58%), 5-CH3-H4PteGlun (18%), 5- and 10-CHO-H4PteGlun (16%), and H2 PteGlun (8%). No PteGlun was detected.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    Analytical chemistry 33 (1961), S. 1220-1222 
    ISSN: 1520-6882
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    Analytical chemistry 34 (1962), S. 1164-1166 
    ISSN: 1520-6882
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 65 (1987), S. 925-925 
    ISSN: 1432-1440
    Keywords: Fabry's disease ; Priapism ; Testosterone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 71 (1993), S. 115-118 
    ISSN: 1432-1440
    Keywords: Fructose bisphosphatase deficiency ; Hypoglycemia lactic acidosis ; Leukocyte FBPase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In the past 5 years we have discovered 8 boys and 3 girls who suffer from fructose-1,6-bisphosphatase deficiency. Although they all showed the typical symptoms of the deficiency such as frequent vomiting, hypoglycemia, lactic acidosis, and hepatomegaly, the age at diagnosis varied from 2 months to 4 years. All the boys revealed the deficient enzyme activity in leukocytes but none of the girls. The liver biopsy was investigated in six patients to confirm the diagnosis. These results suggest the existence of tissue-specific isoenzymes for fructose-1,6-bisphosphatase possibly with a different gene origin.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-2307
    Keywords: Phosphorylase b kinase deficiency ; Glycogen storage disease ; Hypertrophic cardiomyopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe here a male infant with a rare form of glycogenosis caused by deficiency of heart specific phosphorylase b kinase. The disease phenotype was characterized by severe glycogenosis restricted to the heart muscle with secondary rapidly progressive hypertrophic cardiomyopathy causing death at the age of 47 days.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-0533
    Keywords: Amylo-1,4-1,6 transglucosidase ; Branching enzyme ; Myopathy ; Type IV glycogenosis ; Polyglucosan
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Polyglucosan body diseases in adults, contrary to infantile cases (Andersen's disease or type IV glycogenosis or amylopectinosis), are usually not associated with a significant deficiency of the branching enzyme (=amylo-1,4-1,6 transglucosidase). We, therefore, report on a 19-year-old male with complete branching enzyme deficiency presenting with severe myopathy, dilative cardiomyopathy, heart failure, dysmorphic features, and subclinical neuropathy. His 14-year-old brother had similar symptoms and was erroneously classified by a previous muscle biopsy as having central core disease but could later be identified as also having polyglucosan body myopathy. The skeletal muscle, endomyocardiac, and sural nerve biopsies as well as the autopsy revealed extraordinarily severe deposits of polyglucosan bodies not only in striated and smooth muscle fibers, but also in histiocytes, fibroblasts, perineurial cells, axons and astrocytes. Occasional paracrystalline mitochondrial inclusions were also noted. Thus, this patient represents to our knowledge the first juvenile, familial case of polyglucosan body disease with total branching enzyme deficiency and extensive polyglucosan body storage.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-0428
    Keywords: Keywords Diabetes mellitus ; glucose ; ICAM-1 ; mesangial cells ; PKC-NF-ϰB.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstracts Aims/hypothesis. Infiltration of mononuclear cells and glomerular enlargement accompanied by glomerular cell proliferation are very early characteristics of the pathophysiology of diabetes. To clarify the mechanism of early diabetic nephropathy, we measured [3H]-thymidine incorporation and cell numbers to show the influence of a high ambient glucose concentration and the osmotic effect on rat mesangial cell proliferation. We also measured the effect of high glucose on the expression of intercellular adhesion molecule-1 and vascular adhesion molecule-1 by flow cytometry and semiquantitative RT-PCR in mesangial cells and the adhesion of leukocytes to mesangial cells. Methods/results. Cells exposed to high d-glucose (30 mmol/l) caused an increase in [3H]-thymidine incorporation and cell numbers at 24 and 48 h and normalized at 72 h (p 〈 0.05), whereas these changes were not found in high mannitol (30 mmol/l), IL-1β, or TNFα-stimulated mesangial cells. Cells exposed to high-glucose (15, 30, or 60 mmol/l) or osmotic agents (l-glucose, raffinose and mannitol) showed that intercellular adhesion molecule-1 expression began to increase after 24 h, reached its maximum at 24 and 48 h and gradually decreased afterwards. The stimulatory effects of high glucose and high mannitol on mRNA expression were observed as early as 6 h and reached its maximum at 12 h. Up-regulation of ICAM-1 protein and mRNA was also found in IL-1-β and TNF-α-stimulated mesangial cells. Neither vascular adhesion molecule-1 protein nor mRNA expression was, however, affected by high glucose and high mannitol. Notably, the protein kinase C inhibitors calphostin C and staurosporine reduced high glucose- or high mannitol-induced intercellular adhesion molecule-1 mRNA expression and high glucose-induced proliferation. Furthermore, the NF-ϰB inhibitor N-tosyl-l-phenylalanine chloromethyl ketone reduced high glucose- or high mannitol-induced intercellular adhesion molecule-1 mRNA expression and high glucose-induced proliferation. Results showed that high glucose (15, 30 mmol/l) or high concentrations of osmotic agents remarkably increased the number of adherent leukocytes to mesangial cells (p 〈 0.01) compared with control cells (5 mmol/l d-glucose). Functional blocking of intercellular adhesion molecule-1 on mesangial cells with rat intercellular adhesion molecule-1 monoclonal antibody, calphostin C, staurosporine, or N-tosyl-l-phenylalanine chloromethyl ketone significantly inhibited high glucose- or high mannitol-induced increase in leukocyte adhesion (p 〈 〈 0.05). Conclusion/interpretation. These results suggest that high glucose can upregulate intercellular adhesion molecule-1 protein and mRNA expression but not vascular adhesion molecule-1 expression in mesangial cells and promote leukocyte adhesion through up-regulation of intercellular adhesion molecule-1 through osmotic effect, possibly depending on the protein kinase C nuclear factor-kappa B (PKC-NF-ϰB) pathway. High glucose itself can also promote mesangial cell proliferation through the PKC-NF-ϰB pathways. We conclude that hyperglycaemia in itself seems to be an important factor in the development of early diabetic nephropathy. [Diabetologia (2000) 43: 1544–1553]
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 699-699 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 145 (1986), S. 413-417 
    ISSN: 1432-1076
    Keywords: Galactosaemia ; Neurological abnormalities ; Basal ganglia structures
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Progressive cerebellar and extrapyramidal motor disturbances are described in two 16-year-old female twins with classical galctosaemia. The neurological disturbances, characterized by hyper- and dysmetric movements and bilateral intention tremor with choreatic, atactic and even ballistic motor storms, appeared at 12 years of age. Computerized tomography demonstrates cerebral atrophy in cerebellar, brain stem and basal ganglia structures. The central conduction times, determined by somatosensible evoked potentials, are grossly prolonged; the peripheral nerve conduction velocities are normal. The neurological sequelae described are considered a distinct entity in the course of galactosaemia.
    Type of Medium: Electronic Resource
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