Pages that link to "Q67366247"

The following pages link to The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency (Q67366247):

Displaying 19 items.

• Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice (Q28511355) (← links)
• Sialidosis: a review of human neuraminidase deficiency (Q33898281) (← links)
• Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex (Q33940580) (← links)
• Molecular pathology of NEU1 gene in sialidosis (Q34266127) (← links)
• Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology (Q34364491) (← links)
• Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis (Q34418454) (← links)
• Genetics of epilepsy: current status and perspectives. (Q34804508) (← links)
• Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides (Q35203742) (← links)
• Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings (Q36995243) (← links)
• Progressive myoclonus epilepsy. A variant with probable X-linked inheritance (Q39677198) (← links)
• Neuraminidase activity in liver and brain from patients with i-cell disease (Q39682355) (← links)
• Neuraminidase deficiency: case report and review of the phenotype (Q39772950) (← links)
• Prenatal diagnosis of inherited metabolic diseases; principles, pitfalls, and prospects. (Q40245324) (← links)
• Neuraminidase deficiency in the original patient with the Goldberg Syndrome (Q44925622) (← links)
• Neuraminidase activity in the mucolipidoses (types I, II and III) and the cherry-red spot myoclonus syndrome (Q45130639) (← links)
• The simple detection of neuraminic acid-containing urinary oligosaccharides in patients with glycoprotein storage diseases (Q70467704) (← links)
• A severe infantile sialidosis: clinical, biochemical, and microscopic features (Q71144793) (← links)
• Deficiency of neuraminidase in the sialidoses and the mucolipidoses (Q71185005) (← links)
• Peripheral neuropathy in the cherry-red spot?myoclonus syndrome (Sialidosis type I) (Q72857906) (← links)