Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Mutation analysis in the diagnosis of cystic fibrosis (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 909-911 
    Details
    ISSN: 1432-1076
    Keywords: Cystic fibrosis ; Mutation frequency ; Polymerase chain reaction ; Molecular genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Since the characterization of the gene encoding the cystic fibrosis transmembrane conductance regulator protein and identification of its main mutation, ΔF508, causing cystic fibrosis (CF), more than 150 mutations in this gene have been reported, most of them only in a few or even single CF patients. Attempts to use mutation analysis in genetic counselling or for the diagnosis of CF depends on prevalence data of certain mutations in the respective population, and considerable ethnic differences have been reported. In this study we determined the prevalence of the mutations ΔF508, G551D, R553X, and G542X and of genotypes defined by these mutations in 239 CF patients (444 independent CF chromosomes) seen in our clinic. The analysis for those four mutations alone now permits identification of approximately 75% of all mutations in our CF patients. The complete genotype can be resolved in approximately 63% of patients. This represents the diagnostic sensitivity which can be achieved by mutation analysis in patients without a family history of CF. We conclude that in situations where conventional diagnostic tests are not feasible or difficult to interpret, mutation analysis using a limited set of mutations can contribute significantly to an early and specific diagnosis of CF.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957528
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Interferon alpha-2a therapy of consumptive coagulopathy in Kasabach-Merritt syndrome (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 919-919 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954133
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Fetal alcohol syndrome and malignant disease (1984)
    Springer
    European journal of pediatrics 143 (1984), S. 160-161 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445810
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 665-668 
    Details
    ISSN: 1432-1076
    Keywords: Vitamin D resistant rickets ; Extramedullary haematopoiesis ; Intravenous calcium ; Neutrophil chemotaxis ; Lipid A antibodies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We present a new patient with vitamin D dependent rickets type II. A 20-month-old Arabian boy whose parents are first cousins showed florid rickets, myelofibrosis and recurrent septicaemia. In addition to absent specific binding for 1,25-dihydroxyvitamin D3 (1,25(OH)2D3). 25-Hydroxyvitamin D3-24-hydroxylase activity could not be induced in cultured fibroblasts. The patient did not respond to 99 μg 1,25(OH)2D3 per day, but skeletal and haematological abnormalities improved with daily infusion of 100 mg/kg calcium, as serum parathyroid hormone levels fell to normal values. At the age of 7 years, he died from pneumonia. The improvement of haematological abnormalities with calcium infusions but not with 1.25(OH)2D3 suggests a pathogenetic relationship of myelofibrosis and hyperparathyroidism. Having antilipid A IgM antibody titres up to 1∶10.000 after Gram negative septicaemias, the patient never produced corresponding IgG antibodies. His neutrophil chemotaxis was persistently reduced to 57%±3% of age-matched controls (P〈0.028). The patient showed two pathological immune functions considered to contribute to the well-known susceptibility to infection in rickets.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072630
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 665-670 
    Details
    ISSN: 1432-1076
    Keywords: 3-Methylglutaconic aciduria ; 3-Methylglutaconyl-CoA hydratase ; Cardiac hypertrophy ; Complex I ; Cytochrome c oxidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a 4.5-month-old boy presenting with marked muscular hypotonia in the neonatal period, hepatomegaly, cardiac hypertrophy, recurrent hypoglycemia, metabolic acidosis, and secondary carnitine deficiency, there was a considerable urinary excretion of 3-methylglutaconic and 3-methylglutaric acid. Estimation of 3-methylglutaconyl-CoA hydratase, 3-hydroxy-3-methylglutaryl-CoA lyase and initial enzymatic steps of cholesterol biosynthesis in cultured fibroblasts and in different tissues postmortem revealed no enzyme deficiency. Analyses of the respiratory chain in postmortem tissues demonstrated severe impairment of complex I (NADH ubiquinone oxidoreductase) and complex IV (cytochrome c oxidase) activities in skeletal muscle and reduced complex IV activity in heart.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955244
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 6
    Electronic Resource
    Electronic Resource
    Hartnup syndrome, progressive encephalopathy and allo-albuminaemia (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 899-903 
    Details
    ISSN: 1432-1076
    Keywords: Aminoacidopathy ; Allo-albuminaemia ; Encephalopathy ; Hartnup syndrome ; Lethality
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Clinical, biochemical, neuropathological and neurochemical findings in a case of Hartnup syndrome are reported. After initially normal development, the affected girl suffered progressive neuropsychiatric decline with statomotor and mental retardation and intractable seizures and died at the age of 2 years. Postmortem neuropathological and neurochemical investigations showed a combination of extensive neuronal degeneration and cerebral dysmyelination. Pathogenetic hypotheses and the relationship between neuropsychiatric disease and Hartnup syndrome are discussed. Additionally, a fast type bisalbuminaemia present in the girl and her mother is described.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954126
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 7
    Electronic Resource
    Electronic Resource
    Bemerkungen über die jodometrischen Verfahren zur Bestimmung der Peroxydzahl in Speiseölen (1956)
    Springer
    European food research and technology 104 (1956), S. 316-323 
    Details
    ISSN: 1438-2385
    Source: Springer Online Journal Archives 1860-2000
    Topics: Process Engineering, Biotechnology, Nutrition Technology
    Notes: Zusammenfassung Die vonFranzke kritisierte MethodeHadorn undJungkunz zur Bestimmung der Peroxydzahl wurde überprüft und mit der MethodeSully sowie mit der MethodeWheeler verglichen. Bei handelsüblichen Ölen mit einer Peroxydzahl bis etwa 20 werden nach allen Methoden gut übereinstimmende Werte gefunden. Bei extrem hohen Peroxydzahlen liefert die MethodeHadorn undJungkunz tatsächlich etwas zu niedrige Resultate. Es wurde gezeigt, daß es nicht in erster Linie die Kaliumjodidmenge ist, welche die Resultate stark beeinflußt, sondern die Korngröße des verwendeten Kaliumjodids. Mit feinst pulverisiertem Kaliumjodid erhält man fast ausnahmslos annähernd richtige Werte, auch wenn die Kaliumjodidmenge von 1 g auf 0,1 g herabgesetzt wird. Mittelfein pulverisiertes Kaliumjodid dagegen gibt viel zu niedrige Werte. An Stelle der Methoden, bei welchen das Reaktionsgemisch zum Sieden erhitzt wird (Lea, Täufel undRothe; Hadorn undJungkunz; Sully), wird die etwas abgeänderte MethodeWheeler empfohlen. Die Ausführung ist sehr einfach und rasch durchführbar. Man arbeitet bei Zimmertemperatur und erhält gut reproduzierbare Resultato, welche mit den nach andern Methoden gefundenon gut überein-stimmen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01683805
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 8
    Electronic Resource
    Electronic Resource
    Zur entwicklungsphysiologischen Wirkungsanalyse von antimitotischen Stoffen (1945)
    Springer
    Cellular and molecular life sciences 1 (1945), S. 232-233 
    Details
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The cleavage mitoses of eggs of the fresh-water oligochete Tubifex may be irreversibly blocked, if treated during a relatively short time by solutions of certain antimitotic substances (benzoquinone, naphthoquinone or colchicine). It is also possible to inhibit tail regeneration in tadpoles of Rana or Xenopus by a single colchicine treatment during only 30 to 60 minutes. It is discussed whether this is due to irreversible loss of regeneration capacity or simply to an inhibition of the first regeneration processes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02153418
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 9
    Electronic Resource
    Electronic Resource
    MRI of primary meningeal sarcomas in two children: differential diagnostic considerations (1997)
    Springer
    Neuroradiology 39 (1997), S. 225-228 
    Details
    ISSN: 1432-1920
    Keywords: Key words Sarcoma ; meningeal ; Magnetic resonance imaging ; Tumours ; intracranial ; children
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Meningeal sarcomas are very rare, highly aggressive tumours affecting children more frequently than adults. The clinical course and MRI of meningeal sarcomas in two cases are discussed with special regard to possible misinterpretation. In one case MRI demonstrated a circumscribed mass in contact with the meninges, with central areas of haemorrhage. In the other, a case of primary leptomeningeal sarcomatosis, several MRI examinations over the course of almost a year were unhelpful, despite severe neurological complaints. Then MRI revealed meningeal contrast enhancement all over the brain and spinal canal, together with cerebral infarcts. MRI of meningeal sarcomas has not been discussed in the literature. MRI did not permit specific diagnosis, but enabled visualisation of the extent of the tumour and/or meningeal involvement. Early histological diagnosis is indispensable for adequate treatment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002340050399
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 10
    Electronic Resource
    Electronic Resource
    Bone marrow transplantation in Lesch-Nyhan disease (1991)
    Springer
    Journal of inherited metabolic disease 14 (1991), S. 270-271 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01800605
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...