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  • 1
    Electronic Resource
    Electronic Resource
    Radiographic features of fucosidosis (1977)
    Springer
    Pediatric radiology 5 (1977), S. 204-208 
    Details
    ISSN: 1432-1998
    Keywords: Fucosidosis ; Lysosomal disease ; Skeletal dysplasia ; Dysostosis multiplex
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Fucosidosis is an uncommonly recognized lysosomal storage disease which presents with psychomotor deterioration and progressing in some cases to death. The roentgenographic findings in five boys from three families are described. Skeletal abnormalities of a dysostosis multiplex nature are present and though not diagnostic should direct the clinician to perform appropriate biochemical and tissue assay studies to establish the diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00972177
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  • 2
    Electronic Resource
    Electronic Resource
    Assignment of the gene for uridine diphosphate galactose-4-epimerase to human chromosome 1 by human-mouse somatic cell hybridization (1979)
    Springer
    Somatic cell and molecular genetics 5 (1979), S. 363-371 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Hybrid cell clones between mouse cells deficient in hypoxanthine phosphoribosyltransferase and human diploid cells were analyzed for the expression of human uridine diphosphate galactose-4-epimerase (UDPGal-4-epimerase, EC 5.1.3.2) and for the segregation of human chromosomes. Ten of the 18 independent hybrid clones analyzed were found to express human UDPGal-4-epimerase. Karyotype analysis of these hybrids showed concordant segregation of human UDPGal-4-epimerase with chromosome 1. Human UDPGal-4-epimerase is expressed as a dimeric structure demonstrated by the formation of an intermediate heterodimer migrating between the human and mouse forms in the cell hybrids. The gene specifying this enzyme was also observed to be syntenic with enolase-1. These results indicate that the structural gene for human UDPGal-4-epimerase is located on chromosome 1.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01538848
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Identification of a case of Y:18 translocation using a Y-specific repetitive DNA probe (1985)
    Springer
    Human genetics 〈Berlin〉 69 (1985), S. 102-105 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have used a recombinant DNA clone derived from the Y-specific 3,4-kb repeats for in situ chromosome hybridization and Southern blotting analysis to identify a case of de novo Y;18 translocation. The proband has a chromosome complement of 46,XY and a variant chromosome 18 with a Q-bright and C-positive short arm. The father has a normal male karyotype of 46,XY. The mother has a female karyotype of 46,XX and an unusually large Q-bright satellite on one chromosome 22. In situ hybridization with the 3,4-kb probe to the metaphase preparations of family members indicated that the additional Q-bright material in the proband's variant chromosome 18 derived from the Y chromosome of his father, and not from the variant chromosome 22 of his mother. On Southern hybridization, the proband had approximately twice the amount of 3,4-kb repeats per cell as his father. These observations suggest a de novo genetic rearrangement in the proband which probably occurred during the father's spermatogenesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00293276
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  • 4
    Electronic Resource
    Electronic Resource
    Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria (1983)
    Springer
    Journal of inherited metabolic disease 6 (1983), S. 89-94 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This report concerns a patient with severe congenital lacticacidosis associated with proximal renal tubular acidosis and cystinuria. Enzyme studies with cultured skin fibroblasts obtained from the patient revealed zero pyruvate carboxylase activity, but propionyl-CoA carboxylase activity was normal. Administration of various vitamins in large amounts did not improve the clinical condition. In contrast, the patient began to thrive when her diet was supplemented with aspartic acid, asparagine, glutamic acid, and glutamine. The particular dietary treatment used and the biochemical findings merit consideration for management of future cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01800731
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  • 5
    Electronic Resource
    Electronic Resource
    Biochemical studies of a human low-activity galactose-1-phosphate uridyl transferase variant (1978)
    Springer
    Journal of inherited metabolic disease 1 (1978), S. 145-151 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A low activity galactose-1-phosphate uridyl transferase (transferase) variant in a newborn infant has been demonstrated by biochemical studies in erythrocytes and cultured skin fibroblasts. The newborn infant was a galactosaemic suspect identified in a neonatal metabolic screening programme. On breast feeding, he did well without clinical symptoms of galactosaemia during the first 15 days of life. However, substantial amounts of erythrocyte galactose-1-phosphate and urinary galactitol corresponding to the levels in untreated galactosaemic patients, along with mild amino aciduria, were found. The transferase activity, as measured by a sensitive micro kinetic radioisotopic method, was about 7–10% of the normal. On starch gel electrophoresis, the enzyme from the haemolysate had similar mobility as the normal in Tris-glycine buffer, pH 8.8 and phosphate buffer, pH 7.0, but had a slower mobility than that of the normal in the histidine buffer, pH 7.8. The mobility difference was much clearer in a semipurified enzyme preparation. The transferase enzyme in the haemolysate appeared to be more heat labile.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01805583
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  • 6
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis and a case report of isovaleric acidaemia (1978)
    Springer
    Journal of inherited metabolic disease 1 (1978), S. 9-11 
    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/BF01805706
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    Paper (German National Licenses)
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  • 7
    Electronic Resource
    Electronic Resource
    Deficit of uridine diphosphate galactose in galactosaemia (1989)
    Springer
    Journal of inherited metabolic disease 12 (1989), S. 257-266 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF01799215
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  • 8
    Electronic Resource
    Electronic Resource
    Long-term prognosis in galactosaemia: Results of a survey of 350 cases (1990)
    Springer
    Journal of inherited metabolic disease 13 (1990), S. 802-818 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary An international survey of the long term results of treating galactosaemia has shown poor results. These do not seem to be related to any of the relevant variables studied, for example delayed diagnosis or poor dietary compliance.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01800204
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  • 9
    Electronic Resource
    Electronic Resource
    Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency (1989)
    Springer
    Journal of inherited metabolic disease 12 (1989), S. 445-450 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF01802040
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  • 10
    Electronic Resource
    Electronic Resource
    Immune functions in methylmalonicaciduria (1984)
    Springer
    Journal of inherited metabolic disease 7 (1984), S. 12-14 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A variety of phagocytic cell and lymphocyte assays were employed to evaluate the immune status of four patients with methylmalonicaciduria. One patient had a depressed absolute granulocyte count and two patients had depressed neutrophil and monocyte chemotactic responses. All subjects had normal neutrophil phagocytic and bactericidal activities. One patient had a decreased T-cell number; blastogenic responses to phytohaemagglutinin and pokeweed mitogen were normal in all subjects. B lymphocyte measurements were variably abnormal; two children had decreased B-cell numbers; two had marginally decreased IgG levels; a third had an undetectable rubella titre; and two had elevated serum IgE concentrations.In vitro exposure of normal cells to methylmalonic acid concentrations up to 50mg/100 ml did not affect chemotactic or lymphoproliferative responses. In conclusion, although B-cell function may be affected, no consistent abnormality of lymphocyte or phagocytic cell functions could be attributed to the metabolic disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01805612
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