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  • 1
    Electronic Resource
    Electronic Resource
    Starch gel electrophoresis for galactose-1-phosphate uridylyl-transferase applied to dried filter paper blood specimens
    Amsterdam : Elsevier
    Clinica Chimica Acta 77 (1977), S. 295-299 
    Details
    ISSN: 0009-8981
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0009-8981(77)90232-7
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  • 2
    Electronic Resource
    Electronic Resource
    Comparison of galactose-1-phosphate uridyl transferase in fetal and adult tissues
    Amsterdam : Elsevier
    Clinica Chimica Acta 60 (1975), S. 281-284 
    Details
    ISSN: 0009-8981
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0009-8981(75)90068-6
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  • 3
    Electronic Resource
    Electronic Resource
    Einfluß der Natriumkonzentration auf die Reninabgabe aus Nierenrindenschnitten und isolierten Glomerula (1971)
    Springer
    Pflügers Archiv 328 (1971), S. 344-355 
    Details
    ISSN: 1432-2013
    Keywords: Glomeruli ; Juxtaglomerular Apparatus ; Kidney Cortex Slices ; Macula Densa ; Renin Release ; Sodium Concentration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In experiments with kidney cortex slices of rats and pigs and isolated glomeruli of pig kidneys the extracellular sodium concentration was varied in vitro. For the preparation of the glomeruli a method of Wahlet al. [29] was modified. Elevation of the extracellular sodium concentration caused an increase of renin release by the slices where the macula densa was still intact, as well as by the glomeruli without macula densa. These results suggest that the sodium concentration surrounding the epitheloid cells is a main factor in renin secretion both in vitro and in vivo. In this case the effective sodium concentration around the epitheloid cells would be influenced by the luminal sodium in the distal tubulus essentially only by sodium reabsorption and not by chemoreceptor activity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00586836
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  • 4
    Electronic Resource
    Electronic Resource
    Maple syrup urine disease: Treatment of the acutely ill newborn (1978)
    Springer
    European journal of pediatrics 129 (1978), S. 157-165 
    Details
    ISSN: 1432-1076
    Keywords: Maple syrup urine disease ; emergency treatment ; Exchange transfusion ; Neonatal period ; Calorie intake
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three patients with maple syrup urine disease were treated during the acute neonatal stage. Multiple exchange transfusions proved to be a satisfactory means of achieving rapid clinical and biochemical improvement during this phase. On the other hand, evidence is provided suggesting that in addition to exchange transfusions, a high calorie intake above 150 Cal/kg body weight/day is necessary to lower the plasma concentration of the branched chain amino acids to near-normal levels. As long as this calorie intake was not provided, further exchange transfusions failed to lower the plasma leucine concentration to below 17 mg/100 ml in one patient. It is assumed that this high calorie intake is necessary to prevent the breakdown of endogenous protein. Treatment of acute episodes in maple syrup urine disease should therefore not only eliminate the elevated alpha-keto acids and branched chain amino acids quickly (i.e. by multiple exchange transfusions or peritoneal dialysis), but in addition should provide a high calorie intake.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442159
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  • 5
    Electronic Resource
    Electronic Resource
    Oculo-neural involvement in an enzymatically proven case of Niemann-Pick disease type B (1979)
    Springer
    European journal of pediatrics 132 (1979), S. 77-84 
    Details
    ISSN: 1432-1076
    Keywords: Niemann-Pick disease type B ; Oculo-neural involvement ; Cherry-red spot ; Neurovisceral lipidosis ; Spingomyelinase deficiency ; Hepatosplenomegaly ; Interstitial lung infiltrations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Niemann-Pick disease type B was diagnosed clinically and enzymatically in a 4 years old girl presenting with hepatosplenomegaly, diffuse interstitial infiltrations of both lungs on chest roentgenograms, and foam cells in the bone marrow aspirate. Intelligence and neurological examinations were normal. Spingomyelinase activity was almost totally deficient in leukocytes and cultured skin fibroblasts. Unexpectedly, fundoscopy revealed oculoneural involvement with a reddish-brown spot of the macula comparable to but differing in some respects from the classic cherry-red spot found in neurolipidoses. By definition patients with type B Niemann-Pick disease should have no cerebral or oculo-neural involvement. Two comparable cases have been described in the literature. The prognosis of this special type is not yet known. For classification—and especially for genetic counselling—it seems important to include the possibility of oculo-neural involvement in the diagnosis of Niemann-Pick disease type B.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00447373
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  • 6
    Electronic Resource
    Electronic Resource
    Improved prenatal diagnosis of methylmalonic acidemia: Mass fragmentography of methylmalonic acid in amniotic fluid and maternal urine (1981)
    Springer
    European journal of pediatrics 137 (1981), S. 261-266 
    Details
    ISSN: 1432-1076
    Keywords: Methylmalonic acidemia ; Mass fragmentography ; Prenatal diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A sensitive and reliable method for trace analysis of methylmalonic acid in amniotic fluid and urine is described using deuterated methylmalonic acid as the internal standard and capillary gas chromatography/mass fragmentography. The application of the method for the prenatal diagnosis of methylmalonic acidemia is demonstrated in three pregnancies at risk. In two pregnancies the fetuses were affected by methylmalonyl-CoA-mutase deficiency. Correspondingly, the excretion of methylmalonic acid in the maternal urine was elevated as early as at the 12/13th week of gestation, reaching its highest level shortly before abortion at the 19/20th week: 157 and 173 μmol/24h (excretion in normal pregnancies: 39±8 μmol/24h, n=8). In addition, the concentration of methylmalonic acid in amniotic fluid at the 16th week (13.4 and 33.8 μmol/l, normal range 0.31±0.10μmol/l, n=8) strongly suggested that the fetuses were affected. In the third pregnancy no increase of the methylmalonic acid excretion in maternal urine at 11–17 weeks of gestation could be found (42±10 μmol/24h, n=5). The cultured amniotic cells of this fetus showed normal enzyme activity. Nevertheless abortion was initiated without further biochemical investigation because of an elevated a 1-fetoprotein value in the amniotic fluid. The fetus was anencephalic. The data suggest that it is possible to make a reliable prenatal diagnosis of methylmalonic acidemia even in those cases where cultured amniotic cells are not available.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00443254
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  • 7
    Electronic Resource
    Electronic Resource
    Group B streptococci: A new threat to the newborn (1977)
    Springer
    European journal of pediatrics 126 (1977), S. 189-197 
    Details
    ISSN: 1432-1076
    Keywords: Group B streptococci ; Septicaemia ; Respiratory distress ; Newborn ; Perinatal pneumonia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 8 newborns with early onset group B streptococcal infection and two patients with late onset meningitis were observed during a period of three years. Respiratory distress, early onset of apnoic spells, and roentgenographic signs of hyaline membrane disease or perinatal pneumonia may lead to early diagnosis, especially if shock develops. The fatal course can only be prevented by prompt antibiotic treatment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442201
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  • 8
    Electronic Resource
    Electronic Resource
    Neonatal mass screening for metabolic disorders (1981)
    Springer
    European journal of pediatrics 137 (1981), S. 133-139 
    Details
    ISSN: 1432-1076
    Keywords: Screening ; Neonatal mass screening ; Metabolic disorders ; Hypothyroidism ; Hyperphenylalaninaemia ; Galactosaemia ; Maple syrup urine disease ; Adrenogenital syndrome ; Cystic fibrosis ; Duchenne's muscular dystrophy ; Histidinaemia ; Hypermethioninaemia ; Tyrosinaemia ; Haemoglobinopathies ; Glucose-6-phosphate dehydrogenase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The present situation of neonatal mass screening for metabolic disorders in eleven European countries is presented. The only disease screened for on a population wide basis in almost all countries is phenylketonuria. Screening for congenital hypothyroidism has been started in most countries or is under active consideration. A priority list of disorders that should be screened for routinely in all newborns comprises congenital hypothyroidism, hyperphenylalaninaemia, galactosaemia and maple syrup urine disease. Other disorders, like adrenogenital syndrome, cystic fibrosis. Duchenne's muscular dystrophy, histidinaemia, or tyrosinaemia cannot be recommended for mass screening at present because of an unsatisfactory test procedure or lack of effective treatment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441305
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  • 9
    Electronic Resource
    Electronic Resource
    Overwhelming postsplenectomy infection with vaccine-typeStreptococcus pneumoniae in a 12-year-old girl despite vaccination and antibiotic prophylaxis (1997)
    Springer
    Infection 25 (1997), S. 368-371 
    Details
    ISSN: 1439-0973
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary This report describes a 12-year-old girl who developed vaccine-type pneumococcal septicemia (type 4, Danish nomenclature) 2 years after splenectomy for recurrent idiopathic thrombocytopenia despite vaccination with the 23-valent vaccine 4 weeks before surgery and antibiotic prophylaxis with penicillin V. The disease presented as high fever with shivering and vomiting followed by disseminated petechiae and a deteriorated general condition. Initial laboratory studies showed severe sepsis with leucocytopenia and thrombocytopenia, a markedly elevated CRP, and disseminated intravascular coagulation. Despite antibiotic treatment, which was initiated with clindamycin, cefotaxime and trimethoprim/sulfamethoxazole and was switched to cefotaxime and penicillin after the result of the blood culture had been obtained, the patient had to be ventilated, and hemofiltration became necessary because of acute renal insufficiency. Furthermore, she required amputation of all her toes because of severe necrosis. No type-specific pneumococcal antibody titers were detected during and after infection. It remains unclear whether the susceptibility toStreptococcus pneumoniae was due to primary failure of antibody production or a decline in antibody levels after vaccination. Patients and/or their relatives should be informed that neither vaccination nor continuous antibiotic prophylaxis can guarantee full protection against infection withS. pneumoniae in patients after splenectomy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01740820
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