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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 148 (1988), S. 132-135 
    ISSN: 1432-1076
    Keywords: Menkes syndrome ; Genetic heterogeneity ; Copper therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Six patients with Menkes syndrome are described, who differ from patients with the classical form of Menkes syndrome because of their longer survival; some of them also exhibited a milder manifestation of symptoms. Based on the present data and a summary of seven case reports describing Menkes patients with long survival, it may be possible to divide these patients into two subgroups:one group of severely affected patients with long survival and another group of very mildly affected patients with late onset of symptoms. Perhaps only the latter represents a true subgroup of Menkes syndrome. The possible benefits of copper therapy are discussed.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Attention ; Dopamine ; PKU ; Serotonin ; Tyrosine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Seven phenylketonuria (PKU) patients aged 15–24 years were allowed unrestricted diet for 3 weeks. Three of these patients performed well on unrestricted diet according to visual reaction time variability (RTv 50–100 ms) and did not show significant changes when returning to the phenylalanine-restricted diet (RTv 70–100 ms). Neither did the concentrations of homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF) change significantly. Four of the patients, however, performed rather poorly (RTv 120–220 ms) on unrestricted diet and improved significantly (P〈0.03) when the diet was restored (RTv 70–150 ms). The improvements were accompanied by significant (P〈0.01 and P〈0.02) increases (mean 52% and 109%) in CSF levels of HVA and 5-HIAA. Five PKU patients aged 15–23 years were allowed unrestricted diet or unrestricted diet supplemented with various amounts of tyrosine (106–194 mg/kg per 24 h). Two of these patients performed very well on unrestricted diet (RTv 60 ms) and showed little change when the unrestricted diet was supplemented with tyrosine (RTv 70 ms and 80 ms). The three other patients, who performed rather poorly (RTv 120–220 ms), improved significantly (P〈0.03) when the unrestricted diet was supplemented with tyrosine (RTv 70–140 ms). HVA in CSF increased significantly (P〈0.01) with the tyrosine supplement when the amount exceeded a threshold of approximately 80 mg/kg per 24 h. The simultaneous increase in CSF level of 5-HIAA showed a positive correlation (r=0.90; P〈0.02) with the increase in HVA concentration suggesting a functional interrelation between the dopaminergic and the serotoninergic nervous systems.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease 1181 (1993), S. 135-140 
    ISSN: 0925-4439
    Keywords: Down's syndrome ; Gene dosage ; α-Interferon receptor
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine , Physics
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Basic research in cardiology 84 (1989), S. 247-258 
    ISSN: 1435-1803
    Keywords: cardiac hypertrophy ; aortic constriction ; isolatedmyocytes ; regional differences ; population distribution
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Regional changes in cardiac myocyte size and population distribution were examined in Sprague Dawley rats receiving an abdominal aortic constriction at five days of age. At specific time intervals post-constriction, hearts were recovered from constricted animals and weight-matched controls and isolated myocytes were obtained from right and left ventricles using retrograde coronary perfusion with collagenase. Cell volume and cardiac myocyte population distribution curves were determined using a Coulter Channelyzer system. Cell length was measured directly using a Bioquant Image Analysis system. Myocyte cross-sectional area was calculated from cell volume/length. By three months of age, heart weight and heart weight-body weight ratio in constricted animals had increased by approximately 115% (p〈0.001) in females and 85% (p〈0.001) in males compared to controls. Between 15 and 90 days of age, the growth response, as indicated by increased cell volume, was approximately 4× greater in constricted females and 2.5× greater in constricted males compared to corresponding controls. This increase was manifested by a shift in the mean size of the myocyte population to the right and a substantial widening of the distribution. Most of the enlargement was due to increased cross-sectional area, with only a moderate contribution from increased cell length. Significant increases in size were seen in both left and riggt ventricles. By three months of age, a significant interaction was apparent between aortic constriction and sex. The capacity for hypertrophy was greater in the smaller myocytes in female rats of similar age compared to males. The final degree of hypertrophy was similar formale and female rats, possibly indicating a critical upper limit in cell size for cardiac myocytes.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 11 (1988), S. 219-220 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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