Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case.

Winter, R M

Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case. [electronic resource] - Clinical genetics Sep 1980 - 203-10 p. digital

Publication Type: Case Reports; Journal Article

0009-9163

10.1111/j.1399-0004.1980.tb00873.x doi


Abnormalities, Multiple--diagnostic imaging
Adult
Consanguinity
Fibroblasts--enzymology
Gangliosidoses--enzymology
Humans
Intellectual Disability--enzymology
Male
Neuraminidase--deficiency
Oligosaccharides--urine
Radiography