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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 385-388 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Erythrocyte glucose-6-phosphate dehydrogenase (G6PD) was characterized in blood samples obtained from 97 randomly selected males with enzyme deficiency from various regions of Guangdong Province, China. Nine new variants (Gd Kaiping, Gd Boluo, Gd Huiyang, Gd Gaomin, Gd Qing-Baijiang, Gd Gaozhou, Gd Huazhou, Gd Nanhai, and Gd Guangzhou) were identified. Of the 31 variants found in this province, Gd Kaiping, Gd Taiwan-Hakka, Gd Haad Yai, Gd Haad Yai-like and Gd Huiyang occurred most frequently. The frequency of each variant was calculated. The results demonstrated that the genetic heterogeneity of G6PD deficiency was high in this area.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0932
    Keywords: Key words Odontoid process ; Spinal injuries ; Joint instability ; Spinal fusion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Fifty-seven consecutive patients treated surgically for nonunited fractures of the odontoid process were reviewed. All patients presented late, exhibiting neurological deficits subsequent to nonunion. Delay in presentation was between ¶6 and 120 months (mean 32 months) after the original injury, due to missed diagnosis or inappropriate management. Seven patients who were reduced in traction underwent a Gallie atlantoaxial fusion. In the remaining 50 patients who were unreducible, an occipitocervical arthrodesis was performed. They were followed up for a minimum of 2 years, except one who died from postoperative respiratory failure. All patients obtained a solid bony union, including two in whom nonunion occurred following atlantoaxial fusion, and occipitocervical fusion was added as a rescue. Thirty-eight patients achieved excellent neurological recovery, nine still had some disability, five retained their neurological deficits and two reported a deterioration. In two patients, a recurrence in a traumatic episode was experienced long after a resolution. Our findings demonstrate that occipitocervical arthrodesis is preferable for unreducible subluxation or instability of atlantoaxial articulation in nonunion of odontoid fractures.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 63 (1983), S. 280-282 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 12 (1989), S. 257-266 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The levels of uridine diphosphate galactose (UDPGal) and uridine diphosphate glucose (UDPGlc) have been determined in liver autopsy samples, erythrocytes and cultured skin fibroblasts from galactosaemic patients and compared to non-galactosaemic controls. In patients with undetectable erythrocyte galactose-1-phosphate uridyltransferase (transferase) activity, the levels of UDPGal were substantially lower than in controls. In patients with detectable transferase activity, even though in less than 1% of normal values, both UDPGal and UDPGlc levels were in the normal range. Incubation of erythrocytes from both galactosaemic patients and normal individuals with 10 mmol/L uridine increased UDPGal and UDPGlc levels several-fold, both in the presence or absence of galactose in the incubation medium. We hypothesize that a deficit of UDPGal is responsible for the late onset clinical manifestations in galactosaemia which include ovarian failure, speech defect and neurological abnormalities. We suggest that uridine administration may be of therapeutic value in raising the intracellular concentrations of UDPGal. We conclude that the transferase reaction, however small in activity, is essential for optimal UDPGal formation.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 12 (1989), S. 445-450 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The levels of UDPglucose and UDPgalactose (UDPGal) have been measured in erythrocytes of seven patients with galactokinase deficiency. Normal levels of UDPGal were found in all patients with galactokinase deficiency (McKusick 23020). This is in contrast with reduced values of UDPGal found in patients with classical galactosaemia who have complete absence of galactose-1-phosphate uridyl transferase activity. It was demonstrated that patients with galactokinase deficiency had an incomplete enzyme block in erythrocytes by direct enzyme assay, by14CO2 production from [1-14C]galactose, and by the appearance of labelled intermediates, notably galactose-1-phosphate and UDPhexose.
    Type of Medium: Electronic Resource
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