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  • 1
    Electronic Resource
    Electronic Resource
    Die Transkutane-Elektro-Nerven-Stimulation (TENS) (1985)
    Springer
    Archives of gynecology and obstetrics 238 (1985), S. 350-351 
    Details
    ISSN: 1432-0711
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02430013
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  • 2
    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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  • 3
    Electronic Resource
    Electronic Resource
    Rett syndrome revisited: A patient with biotin dependency (1986)
    Springer
    European journal of pediatrics 144 (1986), S. 563-566 
    Details
    ISSN: 1432-1076
    Keywords: Rett syndrome ; Hyperammonemia ; Multiple carboxylases ; Holocarboxylase synthetase ; Biotinidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with Rett syndrome (cerebral atrophy associated with hyperammonemia) was studied. Primary defects of urea cycle enzymes were excluded as causes of the disorder. The analysis of urinary organic acids showed a moderate increase of lactate, methylcitrate, tiglylglycine and 3-hydroxisovalerate, indicating an abnormality of multiple carboxylases. Biotin supplementation reversed the urinary abnormalities. In fibroblasts grown with a low biotin medium propionylCoA and 3-methylcrotonylCoA carboxylase activities were reduced. Holocarboxylase synthetase activity was normal (V max and Km). Surprisingly the biotinidase in fibroblasts was not decreased. The data indicate that some patients with Rett syndrome might suffer from a biotin-dependent defect of unknown nature.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00496036
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  • 4
    Electronic Resource
    Electronic Resource
    Glycogen storage disease: recommendations for treatment (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 226-228 
    Details
    ISSN: 1432-1076
    Keywords: Glycogen storage disease ; Glucose-6-phosphatase ; Glucose-6-phosphate translocase ; Debranching enzyme ; Phosphorylase-6-kinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A workshop was held on “Aspects of treatment of patients with glycogen storage disease” within the framework of the Concerted Action “Inborn errors of metabolism” of the European Communities. Consensus was reached on the main issues of treatment of patients with deficiency of glucose-6-phosphatase, glucose-6-phosphate translocase, debranching enzyme, liver phosphorylase and phosphorylase-b-kinase. The resulting recommendations are reported.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442683
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  • 5
    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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  • 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
    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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  • 8
    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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  • 9
    Electronic Resource
    Electronic Resource
    Application of gas chromatography/mass spectroscopy to the investigation of metabolic pathways of trace elements using stable isotopes as tracers (1988)
    Springer
    Fresenius' Zeitschrift für analytische Chemie 331 (1988), S. 202-204 
    Details
    ISSN: 1618-2650
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Notes: Summary Zinc and copper metabolism became easier to study after science provided two research ways [1]: Isotope tracer technique and atomic absorption spectroscopy. Using stable isotopes is advantageous in humans because exposure to radioactivity is avoided and therefore the method can be used safely in infants and pregnant women. According to Ehrenkranz et al. [2, 3] zinc absorption in premature infants is 60%. Ziegler and coworkers report a lower absorption of zinc in infants (20%–44%) [8]. The copper intestinal uptake has been reported to be 68% in adults [3, 4]. We have investigated the bioavailability of zinc in a group of premature infants and one term infant weighing 1850 to 5630 g and the copper absorption in a man and an adolescent with M. Wilson (a copper storage disease) and discuss the accurate isotope analysis of human feces in relation to mineral bioavailability studies of premature infants. It is shown that for the determination of bioavailability of zinc and copper, the method of chelate-gas chromatography/mass spectrometry (GC/MS) is valuable for routine application to clinical experiments; the human fecal samples resulting from diet suitably enriched with isotopes68Zn,70Zn or65Cu can be routinely analysed with a precision of about 1% for these stable isotopes [2]. The total zinc in feces was determined by atomic absorption spectroscopy and the70Zn/64Zn ratio by chelate-GC/MS (EI). We have found different absorption values between 3% to 70% for zinc in a group of different infants including twins, triplets and preterms. The copper uptake was determined to be 79.7% and 49.9%.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01105167
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