Prenatal diagnosis of sialidosis with combined neuraminidase and ø-galactosidase deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1979.tb00851.x/fullpdf
Reference6 articles.
1. Enzymatic studies of a new variant of GMI-gangliosidosis in an older Child;Justice;Pediat. Res.,1977
2. Rapid prenatal diagnosis of GMi-gangliosidosis using microchemical methods;Kleijer;Hum. Genet.,1976
3. β-Galactosi-dase deficiency in an adult: A biochemical and somatic cell genetic study on a variant of GMi-gangliosidosis;Koster;Clin. Genet.,1976
4. O'Brien , J. S. 1978 An explanation for complementation in GMi-gangliosidosis Amsr. Soc. hum. Genet. 29th Ann. Meeting
5. Synthesis of 4-methylumbelliferyl-(2i)-α-D-N-acc-tylneuraminic acid and detection of skin fibroblast neurcmanidase in normal humans and sialidosis;Warner;Biochemistry,1979
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