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  • 1
    Electronic Resource
    Electronic Resource
    Cataract in a fetus at risk for oculo-cerebro-renal syndrome (lowe) (1977)
    Springer
    Journal of molecular medicine 55 (1977), S. 141-144 
    Details
    ISSN: 1432-1440
    Keywords: Oculo-cerebro-renales Syndrom (Lowe) ; Katarakt ; Fetus ; Oculo-cerebro-renal syndrome (Lowe) ; Cataract ; Fetus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A high-risk pregnancy for X-linked recessive inherited Lowe's syndrome was terminated due to a male karyotype in the cultured amniotic fluid cells. The eyes of the male fetus showed specific cataracteous changes of the lens. A posterior lenticonus was due to a defect of the lens capsule. The lenses were of normal size. Loss of lens material through a lens capsule defect could account for the small discoid lens usually seen in Lowe's syndrome. Amino acids in amniotic fluid had normal concentrations except lysine and proline which were markedly elevated.
    Notes: Zusammenfassung Bei einer Schwangeren, die bereits einen Jungen mit Lowe-Syndrom hat, wurde eine Amniocentese durchgeführt. Die Schwangerschaft wurde unterbrochen, nachdem sich in den kultivierten Zellen der Amnionflüssigkeit ein männlicher Karyotyp zeigte und damit eine Wahrscheinlichkeit von 50% für die Geburt eines weiteren Kindes mit dieser X-chromosomal rezessiv erblichen Erkrankung bestand. Der männliche Fet bot die für das Lowe-Syndrom charakteristischen Linsentrübungen. Es bestand ein Lenticonus posterior mit Defekt der hinteren Linsenkapsel; die bisher bekannte kleine, discoide Linse des Lowe-Syndroms entsteht somit möglicherweise durch Verlust von Linsenmaterial bei defekter hinterer Linsenkapsel. Die Aminosäurenkonzentrationen im Fruchtwasser waren mit Ausnahme von deutlichen Erhöhungen von Lysin und Prolin normal.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01490242
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  • 2
    Electronic Resource
    Electronic Resource
    Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance (1979)
    Springer
    European journal of pediatrics 131 (1979), S. 33-41 
    Details
    ISSN: 1432-1076
    Keywords: Hyperdibasicaminoaciduria ; Lysinuric protein intolerance ; Loading tests ; Lysine ; Alanine ; Arginine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The first patient of Turkish descent with hyperdibasicaminoaciduria is described. Recurrent diarrhea was observed only during the first three months of life. The infant exhibited low plasma levels of ornithine and arginine. Intestinal absorption of lysine was decreased. Hyperammonemia was noticed only after an i.v. alanine load. It was prevented by addition of arginine.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442783
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  • 3
    Electronic Resource
    Electronic Resource
    The treatment of intractable diarrhea by the method of “Baustein” principle using a casein hydrolisate (1977)
    Springer
    European journal of pediatrics 124 (1977), S. 89-100 
    Details
    ISSN: 1432-1076
    Keywords: Intractable diarrhea ; Celiac disease ; Treatment ; Casein hydrolisate ; Amino acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Ten infants with intractable diarrhea, celiac disease and small bowel resection were treated with a special dietetic regimen called “Baustein” principle. The three major food constituents were added to the formula stepwise: first glucose and maltodextrin followed by protein and vegetable oil or MCT oil. The protein source was a newly developed casein hydrolisate also containing minerals, trace elements and vitamins.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00477544
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  • 4
    Electronic Resource
    Electronic Resource
    Isolated defect of peroxisomal β-oxidation in a 16-year-old patient (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 339-342 
    Details
    ISSN: 1432-1076
    Keywords: Peroxisomes ; Inborn error ; Hepatosplenomegaly ; Psychomotor retardation ; Fatty acid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a 16-year-old boy suffering from psychomotor retardation, sensorineuronal hearing impairment, peripheral neuropathy, hepatosplenomegaly, short stature and delayed puberty. Postnatally, muscular hypotonia, mild facial dysmorphism and delayed fontanelle closure had been noticed. At the time of our examination, adrenal cortical function was normal. Biochemical analysis revealed accumulation of very long (〉C22) chain fatty acids in plasma and fibroblasts. Furthermore, elevated levels of intermediates of bile acid synthesis and phytanic acid were detectable. These findings are consistent with a defect in the peroxisomal β-oxidation system. A generalised defect of peroxisomal function was excluded by normal plasmalogen levels in erythrocytes and normal plasmalogen de novo synthesis in fibroblasts. Immunoblotting of the peroxisomal β-oxidation enzymes gave normal results suggesting retained immunoreactivity but catalytic inactivity of one of the enzymes involved, probably either the trifunctional protein or the peroxisomal ketothiolase. This case markedly differs clinically from the few published reports on isolated deficiencies of peroxisomal β-oxidation. Among the patients with comparable biochemical findings, this is the first report of survival into adolescence.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01956749
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  • 5
    Electronic Resource
    Electronic Resource
    Faecal excretion in infants (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 452-454 
    Details
    ISSN: 1432-1076
    Keywords: Infant Nutrition ; Faecal excretion ; Gastro-intestinal passage time
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Data on normal defaecation patterns in relation to diet during the first months of infancy are very limited. We therefore investigated in a prospective study faecal weight and gastro-intestinal passage time of breast fed (n=12) and formula fed (n=14) male infants. These were studied in 72 h collecting periods at the age of 17, 35, 57, 87 and 113 (±4) days. Breast fed infants had a significantly lower daily dry faecal weight than formula fed infants in all periods investigated (median at the age of 113 days: 0.28 (0.17–0.75) g/kg and 0.81 (0.22–1.2) g/kg, respectively). Breast fed infants showed a large variation of gastro-intestinal passage time (6.79 h [range: 1.79–13.38 h] at the age of 17 days, 21.84 h [range: 5.41–75 h] at the age of 113 days). Comparable values of formula red infants were 13.75 h (range: 7.13–35.25 h) and 17.42 h (range: 5.38–36.5 h). Despite the efforts of approximation of infant formula to breast milk, differences of defaecation patterns in relation to diet are still relevant at this age and have to be considered in clinical practice.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955910
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  • 6
    Electronic Resource
    Electronic Resource
    Comparison of umbilical arterial versus umbilical venous blood PH correlated with arterio-venous glucose difference and cardiotocographic score (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 840-843 
    Details
    ISSN: 1432-1076
    Keywords: Perinatal asphyxia ; Umbilical blood pH ; Umbilical arterio-venous glucose difference ; Cardiotocography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The value of clinical parameters and umbilical arterial blood pH as indicator of prenatal hypoxia is disputed. In a prospective study of 86 vaginally delivered full-term infants, cardiotocographic (CTG) findings obtained 0–30 min and 30–60 min before birth were compared to pH values, O2 and CO2 partial pressures and glucose difference in umbilical arterial and venous blood. CTG findings were expressed as a score, higher values indicating fetal hypoxia. The venous but not the arterial blood pH was significantly related to the later (0–30 min) CTG score. The arterio-venous glucose difference was significantly related to both CTG scores. There was a significant statistical relationship between glucose difference and venous but not arterial blood pH. The later CTG score (0–30 min) also correlated significantly with O2 and CO2 partial pressures and base excess in the umbilical vein of all vaginally born infants. If CTG is accepted as an objective indicator of fetal hypoxia before birth, the arterio-venous glucose difference, and in the investigated range of pH-values, umbilical venous blood pH are more suitable than the arterial blood pH to ascertain the peripartal situation of the newborn.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02073383
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  • 7
    Electronic Resource
    Electronic Resource
    Characteristics of galactokinase and galactose-1-phosphate uridyltransferase in cultivated fibroblasts and amniotic fluid cells (1979)
    Springer
    Human genetics 〈Berlin〉 48 (1979), S. 31-37 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The kinetic characteristics of galactose-1-phosphate uridyltransferase and galactokinase in cultivated fibroblasts and amniotic fluid cells were investigated. The K m values of galactokinase for galactose at 2.0 mM ATP are 0.34 mM in amniotic fluid cells and 0.48 mM in fibroblasts. The K m values for ATP at 0.5 mM galactose are 1.25 mM and 2.10 mM. Transferase and galactokinase activities and protein content increase logarithmically during the growth of cultivated cells. The specific activity of both enzymes also increases and reaches a maximum level 10–15 days after subculture. The specific activity of transferase increases faster than that of galactokinase in the case of amniotic fluid cells. In the case of fibroblasts the specific activity of galactokinase increases faster than that of transferase.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273271
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  • 8
    Electronic Resource
    Electronic Resource
    Buchbesprechungen (1975)
    Springer
    Infection 3 (1975), S. 61-61 
    Details
    ISSN: 1439-0973
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01641289
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  • 9
    Electronic Resource
    Electronic Resource
    Trace element excess in PKU diets? (1990)
    Springer
    Journal of inherited metabolic disease 13 (1990), S. 897-905 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Knowledge of trace element requirements of infants with phenylketonuria (PKU) fed a semisynthetic diet is limited. Three infants with PKU detected early were studied longitudinally in classical balance studies for 72 h, under domestic conditions, at the ages of 2, 5, 8, 12 and 16 weeks. Iron, copper and manganese concentrations in the diet and faeces were determined by atomic absorption spectroscopy. The median concentrations in the diet (4.8 mg Fe/L, 1.7 mg Cu/L, 0.43 mg Mn/L) exceed those in human milk. This is mainly due to supplementation of the amino acid preparation used. The increased intake led to a significantly higher daily retention of Cu and Mn from the PKU-diet fed, with a median of 0.17 mg Cu/kg and 6.4 µg Mn/kg body weight; the median retention of Fe was 0.24 mg Fe/kg. Our results confirmed the doubts about the suitability of the present trace element supplementation in formula for infants with PKU during the first four months of life.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01800217
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  • 10
    Electronic Resource
    Electronic Resource
    Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease (1994)
    Springer
    Journal of inherited metabolic disease 17 (1994), S. 636-637 
    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/BF00711609
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