Nephrosialidosis
National Institutes of Health
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We report an unusual case of cerebral aneurysmal subarachnoid hemorrage (SAH) with Fabry's disease. A 42-year-old woman presented…
Nephrosialidosis is a rare subgroup of sialidosis characterized by a progressive and fatal course of nephropathy. The authors…
SummaryThe neuropathological findings in a Japanese male with nephrosialidosis are reported. Clinically, coarse face, psychomotor…
SummaryA 56-day-old infant with α-neuraminidase deficiency, whose clinical features included severe edema of extremities and…
were observed in the right internal capsule and in both the coronae radiatae. The periventricular white matter, particularly in…
A 56-day-old infant with alpha-neuraminidase deficiency, whose clinical features included severe edema of extremities and ascites…
We observed a 3-month-old Japanese female infant with severe psychomotor retardation, coarse facial appearance…
Clinical, histological and ultrastructural findings are described in a male infant presenting a peculiar type of mucolipidosis…
The term nephrosialidosis is proposed to describe a type of oligosaccharidosis in which a glomerular nephropathy develops early…
The anatomical, macroscopical, histological, histochemical and ultrastructural findings in nephrosialidosis have certain…