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
    Genetic testing (1993)
    [s.l.] : Nature Publishing Group
    Nature 364 (1993), S. 754-754 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] SIR - I oppose Ron M. Kagan's letter headed "Justice is not egalitarian" (Nature 363, 578; 1993). Increasing use of genetic screening will demonstrate that everybody carries some genetic disability. If, according to Kagan's optimistic model, all these people would acquire "special skills in high ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/364754e0
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Absence of a significant renal threshold for two aromatic acids in phenylketonuric children over two years of age (1980)
    Springer
    European journal of pediatrics 134 (1980), S. 115-118 
    Details
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Phenylpyruvic acid ; Phenylacetates ; Gas chromatography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract There is a steady and nonlinear relationship between the levels of both phenylpyruvic acid (PPA) and o-hydroxyphenylacetic acid (oOPAA) in urine and the plasma levels of phenylalanine (phe) in children more than two years of age with phenylketonuria (PKU). If phe levels in blood rise above 0.35 mM (5.8 mg/100 ml) both aromatic acids are found regularly in urine. Typically, urinary concentrations of PPA are about 5 times higher than those of oOPAA. This report is based on the analysis of 94 samples from 51 children, on or off diet.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01846027
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Restriction fragment length polymorphisms at the human parathyroid hormone gene locus (1984)
    Springer
    Human genetics 〈Berlin〉 67 (1984), S. 428-431 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two common Pst I and Taq I restriction enzyme fragment length polymorphisms (RFLPs) were detected at the human parathyroid hormone (PTH) gene locus. The allele frequencies in a Northern German population were 0.578/0.422 (Pst I) and 0.628/0.372 (Taq I). The allele distributions follow Hardy-Weinberg expectations of equilibrium in the population. The Mendelian nature of the polymorphisms were confirmed in family studies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291404
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Detection of heterozygotes in maple syrup urin disease: Role of lymphocyte count (1968)
    Springer
    Human genetics 〈Berlin〉 6 (1968), S. 189-190 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary It is reported that the enzyme activity for oxydative decarboxylation of the α-keto acis derived from the branched chain amino acids valine, leucine and isoleucine in peripheral blood is located in the lymphocytes. The equation for the relationship of enzyme activity for these reactions and the relative lymphocyte count of the leukocyte suspension is given. Thus the possibility of faulty interpretation can be reduced. Further evidence for the existence of different oxidase proteins for the catabolism of the three branched chain α-keto acids is given.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00297728
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Crigler-Najjar syndrome type II (1995)
    Springer
    Digestive diseases and sciences 40 (1995), S. 28-32 
    Details
    ISSN: 1573-2568
    Keywords: Crigler-Najjar type II ; autosomal recessive inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The inheritance of Crigler-Najjar syndrome type II (CNS II) is still unclear. Both autosomal dominant transmission with variable penetrance and autosomal recessive transmission have been reported. We describe the diagnosis of CNS II in an adult patient with unconjugated serum bilirubin levels up to 19.6 mg/dl and no detectable activity of bilirubin UDP-glucuronosyltransferase in the liver biopsy. Serum bilirubin levels decreased markedly on phenobarbital treatment. The parents of our patient are first cousins. The mother and three of the patient's five sibs were jaundiced within a few days of birth. Our patient and her jaundiced siblings have 11 children, all healthy and anicteric. We conclude from these data that the inheritance of this very rare disease follows an autosomal recessive pattern, with pseudodominance in this family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02063937
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 6
    Electronic Resource
    Electronic Resource
    Blaue-Sklera-Syndrom und Keratoglobus (1977)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 204 (1977), S. 235-246 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bei 2 auf Kreta geborenen Kindern von blutsverwandten Eltern bestanden die klinischen Symptome des oculären Types des Ehlers-Danlos-Syndroms: blaue Skleren, Keratoglobus und Hornhautruptur nach Bagatelltrauma. In kultivierten Fibroblasten eines der Kinder wurde kein Defekt der Lysin-Hydroxylierung festgestellt. Der mögliche Zusammenhang unseres Falles mit dem kürzlich von Judisch et al. (1976) mitgeteilten wird besprochen. Der oculäre Typ des Ehlers-Danlos-Syndroms scheint genetisch heterogen zu sein. Für Fälle mit normaler Lysin-Hydroxylierung in vitro wird die provisorische Bezeichnung „Typ VIII des Ehlers-Danlos-Syndroms“ vorgeschlagen.
    Notes: Summary Two children born on Crete of consanguinous parents presented the following manifestations of the ocular type of Ehlers-Danlos syndrome (EDS): blue sclerae, keratoglobus and rupture of cornea following minor trauma. In cultivated fibroblasts of one of the patients there was no evidence of defective lysine hydroxylation. The possible relation of our case to a recent similar report by Judisch et al. (1976) is discussed. The ocular type of EDS may be genetically heterogenous. Provisionally, we propose for cases with normal lysyl hydroxylation in vitro the term ‘type VIII of EDS’.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00415317
    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...