|1.||Pshezhetsky, A V: 2 articles (05/2001 - 01/2001)|
|2.||Lukong, K E: 2 articles (05/2001 - 01/2001)|
|3.||Rieder, Carlos Roberto de Mello: 1 article (06/2011)|
|4.||Vedolin, Leonardo: 1 article (06/2011)|
|5.||Bragatti, José Augusto: 1 article (06/2011)|
|6.||Netto, Cristina Brinckmann Oliveira: 1 article (06/2011)|
|7.||Bianchin, Marino Muxfeldt: 1 article (06/2011)|
|8.||Schwartz, Ida Vanessa Doederlein: 1 article (06/2011)|
|9.||Torres, Carolina Machado: 1 article (06/2011)|
|10.||Garzon, Eliana: 1 article (06/2011)|
01/01/1986 - "Pathological study on a severe sialidosis (alpha-neuraminidase deficiency)."
10/01/1980 - "Biochemical study showed an alpha-neuraminidase deficiency in cultured fibroblasts: the decrease in this enzyme activity was compared to that found in a patient affected by mucolipidosis III."
10/01/1980 - "Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult."
05/18/2001 - "Transgenic expression of mutants followed by density gradient centrifugation of cellular extracts confirmed this hypothesis and showed that sialidase deficiency in some sialidosis patients results from disruption of the lysosomal multienzyme complex."
08/01/1998 - "The existence of naturally-occurring animal models for sialidase deficiency (SM/J mouse) and the phosphotransferase deficiency (mucolipidosis III cat) provide opportunities to develop new therapeutic approaches."
|2.||Status Epilepticus (Complex Partial Status Epilepticus)
|4.||GM1 Gangliosidosis (Gangliosidosis GM1)
05/01/1981 - "This is the only known patient with chronic GM1 gangliosidosis in whom abnormal accumulation of GM1 ganglioside has been demonstrated in affected tissue and sialidase deficiency has been excluded as the primary genetic defect."
05/09/1980 - "Although the normosomatic type may be an incomplete form of the dysmorphic type from the standpoint of sialidase deficiency, the dysmorphic type also has a beta-galactosidase deficiency. "
01/04/1983 - "Lysosomal sialidase deficiency in sialidosis with partial beta-galactosidase deficiency."
05/01/1982 - "Neuraminidase deficiency has been demonstrated in cultured skin fibroblasts of patients who have adult type sialidosis with partial beta-galactosidase deficiency. "
05/01/1982 - "Neuraminidase deficiency and accumulation of sialic acid in lymphocytes in adult type sialidosis with partial beta-galactosidase deficiency."
|5.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/01/1977 - "Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease."
07/01/1978 - "The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency."
04/21/1982 - "Enhanced proteolytic degradation of normal beta-galactosidase in the lysosomal storage disease with combined beta-galactosidase and neuraminidase deficiency."
01/01/2001 - "Congenital sialidosis is a rare lysosomal storage disease caused by a primary neuraminidase deficiency which results from defects in the neuraminidase gene on chromosome 6p. "
07/01/1981 - "The levels of these eight lysosomal enzymes were measured in lymphoblastoid cells from 11 patients with hereditary lysosomal storage diseases--GMI-gangliosidosis, a variant of beta-galactosidase deficiency (sialidase deficiency with a partial beta-galactosidase deficiency), Tay-Sachs disease, Gaucher disease, Hurler syndrome, Scheie syndrome and I-cell disease--and from 20 of their obligate heterozygotes. "
|1.||5-Hydroxytryptophan (5 Hydroxytryptophan)
|5.||Neuraminidase deficiency with beta-galactosidase deficiency
|6.||N-Acetylneuraminic Acid (Sialic Acid)
|9.||Complementary DNA (cDNA)
|10.||Steroid 21-Hydroxylase (21 Hydroxylase)