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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 159 (2000), S. 412-415 
    ISSN: 1432-1076
    Keywords: Key words Malignant infantile osteopetrosis ; Rickets ; Neonate ; Vitamin D deficiency ; Abbreviations25OHD 25-Hydroxyvitamin D ; 1,25(OH)2D 1,25-Dihydroxyvitamin D ; PTH Parathyroid hormone ; ALP Alkaline phosphatase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A neonate presented with clinical, biochemical, endocrine and radiographic features consistent with vitamin D deficiency rickets of maternal origin. Persistent hypocalcemia and subsequent development of pancytopenia, hemolysis and hepatosplenomegaly prompted further studies that led to the diagnosis of infantile osteopetrosis. Conclusion Osteopetrosis is an important differential diagnosis of neonatal rickets and is not excluded by low vitamin D levels.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1573-4986
    Keywords: colon carcinoma associated mucins ; sialyl-Lex ; fucosyltransferases ; AM-3
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Notes: Abstract The potential contribution of fucosyltransferases to the overexpression of sialyl-Lex antigen was investigated in the colon carcinoma cell line HT-29 and in human colon carcinoma tissue. In HT-29 cells as well as in normal or malignant colonic tissues Fuc-TIII, Fuc-TIV, Fuc-TVI but not Fuc-TV nor Fuc-TVII were detectable after RT-PCR. Sodium butyrate treatment of HT-29 cells increased (to about 200%) and DMSO treatment decreased (to about 20%) the expression of sialyl-Lex. This modulation of sialyl-Lex was concomitant with the analogous increase/decrease of mRNA of Fuc-TIII but not Fuc-TIV. Fuc-TVI was not detectable by Northern blotting in HT-29 cells. In six human colon carcinomas which exhibited strong overexpression of sialyl-Lex, the expression of Fuc-TIII-mRNA was the same or lower than in the corresponding normal colonic tissue. Thus Fuc-TIII expression may be affecting the expression of the sialyl-Lex moiety in HT-29 cells but not in human colon carcinoma tissue.
    Type of Medium: Electronic Resource
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