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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 15 (1972), S. 271-273 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung An einem Untersuchungsgut von 2638 Blutproben von schweizerischen Erwachsenen wurde die Verteilung der Phosphoglucomutase(PGM1)-Gruppen untersucht. Die gefundene Verteilung ist in ausgezeichneter Übereinstimmung mit dem Hardy-Weinberg-Gesetz. Die Frequenzen stimmen mit denen anderer kaukasischer Bevölkerungen überein (PGM 1 1 =0,7586, PGM 2 1 -0,2414). In 942 Mutter/Kind-Paaren wurden keine theoretisch unmögliche Kombination gefunden. Es bestand keine signifikante Differenz zwischen den Genfrequenzen von Frauen und Männern. Bei 3 nichtverwandten Personen (1 Frau, 2 Männer) wurde ein seltener Phänotyp (wahrscheinlich 3-1) beobachtet. Der gleiche Typ wurde bei 2 Kindern gefunden (eines war das Kind der Frau, das andere dasjenige von einem der Männer).
    Notes: Summary The distribution of the phosphoglucomutase(PGM1)-groups was studied on blood samples obtained from 2638 Swiss adults. The distribution was found to be in excellent agreement with the Hardy-Weinberg equilibrium. The obtained gene frequencies were similar to those observed in other Caucasian populations (PGM 1 1 =0.7586, PGM 1 2 =0.2414). In 942 mother/child pairs no theoretical “impossible” combinations were found. No significant difference was observed between the gene frequencies of men and of women. An unusual phenotype, probably 3-1, was found in blood samples from 3 unrelated adults (1 woman and 2 men). In addition 2 children (a child of the woman and a child of one of the men) were found to have this rare phenotype.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 12 (1971), S. 167-169 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The distribution of the adenylate kinase groups was studied on blood samples obtained from 2270 Swiss individuals. The distribution was found to be in excellent agreement with the Hardy-Weinberg equilibrium. The obtained gene frequencies were similar to those observed in other Caucasian populations (AK1=0.957, AK2=0.043). In 335 mother/childpairs no theoretically “impossible” combinations were found. No significant difference was observed between the gene-frequencies of men and women. Among the blood samples investigated an “unusual” phenotype was found in one mother and her child.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 8 (1970), S. 354-356 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The distribution of the red cell acid phosphatase groups was studied on 1365 blood samples of Swiss individuals. The distribution is in agreement with the Hardy-Weinberg equilibrium. Gene frequencies similar to those observed in other Caucasian populations were obtained (PA=0.345, PB=0.607, PC=0.049). In 331 mother/child-combinations, we found no theoretically “impossible” combinations.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 116 (1974), S. 213-222 
    ISSN: 1432-1076
    Keywords: Hyperlipoproteinemia ; Hyperchylomicronemia ; Lipaemia retinalis ; A low-fat diet
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über einen 4 Wochen alten Säugling mit einer essentiellen Hyperlipämie Grütz-Bürger berichtet, die zufällig bei der Untersuchung eines Unterlidhämangioms entdeckt wurde. Die Stoffwechseluntersuchungen ergaben exzessiv erhöhte Neutralfette. Die Augenhintergrunduntersuchung ergab das Bild einer Lipaemia retinalis. Ausführlich wird auf die diätetische fettarme Behandlung eingegangen, die gute Erfolge brachte und das normale Gedeihen des Kindes gewährleistet. Gute häusliche Verhätnisse machten eine ambulante Behandlung und Überwachung möglich.
    Notes: Abstract Grütz-Bürger essential hyperlipemia type I has been diagnosed in a 4-week-old infant suffering from a hemangioma of the lower left eyelid. Metabolic investigations showed excessively increased serum fat levels. Funduscopy was consistent with lipemia retinalis. By reducing the fat intake to a maximum of 5 g/day, serum levels returned to normal. Further observation over 1 year has shown normal development of the child.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Graefe's archive for clinical and experimental ophthalmology 192 (1974), S. 141-150 
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bei Normalpersonen und Patienten mit Keratoconjunctivitis sicca wurden mit einer Fluoreszeinverdünnungsmethode Tränenvolumenmessungen durchgeführt. Der Mittelwert des Tränenvolumens lag in der Vergleichsgruppe bei 6,5±0,3μl (σx) mit einem Bereich von 3,4–10,7μl. Bei 16 Augen mit Keratoconjunctivitis sicca waren die meisten Werte mäßig erniedrigt mit einem Mittelwert von 4,8±0,4μl und einem Bereich von 2,9–8,0μl. Diese Erniedrigung scheint sich in erster Linie als eine Reduktion des Tränenmeniscus zu manifestieren. Bei den Patienten mit Keratoconjunctivitis sicca bestand keine Beziehung zwischen den Tränenvolumenwerten und den Ergebnissen des Schirmertests oder dem Ausmaß der Bengalrot-Färbung. Auf der Grundlage durchschnittlicher Schirmertestwerte für die nicht stimulierte Tränensekretion („basale Sekretion“) wurde die Tränensekretionsrate geschätzt; sie liegt hiernach beim normalen Auge zwischen 0,6 und 1,1μl/min, beim Patienten mit Keratoconjuctivitis sicca zwischen praktisch Null und 0,2μl/min.
    Notes: Summary Tear volume measurements were made in normal individuals and in patients with keratoconjunctivitis sicca using a fluorescein dilution method. The mean tear volume in normals was found to be 6.5±0.3μl (S.E.M.) with a range of 3.4 to 10.7 μl. In sixteen eyes with keratoconjunctivitis sicca most of the values were moderately decreased with a mean of 4.8±0.4μl and a range of 2.9 to 8.0μl. This decrease seems to manifest itself primarily as a reduction of the tear meniscus. Among the keratoconjunctivitis sicca patients there was no correlation between the values of volume and the results of the Schirmer test or the degree of Rose bengal staining. On the basis of average Schirmer test values for unstimulated tear secretion (“basic secretion”), the tear secretion rate was estimated to range from 0.6 to 1.1μl/min in normals, and from virtually zero to 0.2μl/min in the patients with keratoconjunctivitis sicca.
    Type of Medium: Electronic Resource
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