Winter, R M <br/><br/>
Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case.  [electronic resource] 

 -  Clinical genetics  Sep 1980 
 - 203-10 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0009-9163 
<br/><br/><label>Standard No.: </label>10.1111/j.1399-0004.1980.tb00873.x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnostic imaging<br/>Adult<br/>Consanguinity<br/>Fibroblasts--enzymology<br/>Gangliosidoses--enzymology<br/>Humans<br/>Intellectual Disability--enzymology<br/>Male<br/>Neuraminidase--deficiency<br/>Oligosaccharides--urine<br/>Radiography