Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Sialidosis: a review of human neuraminidase deficiency.

× No keyword cloud information.

60 in total

1. Km values of influenza virus neuraminidases for a new fluorogenic substrate, 4-methylumbelliferone N-acetyl neuraminic acid ketoside.

Authors: J J Thomas; E C Folger; D L Nist; B J Thomas; R H Jones
Journal: Anal Biochem Date: 1978-08-01 Impact factor: 3.365

2. Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies.

Authors: D A Wenger; T J Tarby; C Wharton
Journal: Biochem Biophys Res Commun Date: 1978-05-30 Impact factor: 3.575

3. Studies on brain cytosol neuraminadase. I. Isolation and partial characterization of two forms of the enzyme from pig brain.

Authors: B Venerando; G Tettamanti; B Cestaro; V Zambotti
Journal: Biochim Biophys Acta Date: 1975-10-22

4. Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis.

Authors: G Strecker; M C Peers; J C Michalski; T Hondi-Assah; B Fournet; G Spik; J Montreuil; J P Farriaux; P Maroteaux; P Durand
Journal: Eur J Biochem Date: 1977-05-16

5. Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types.

Authors: D M Derry; J S Fawcett; F Andermann; L S Wolfe
Journal: Neurology Date: 1968-04 Impact factor: 9.910

6. Acid hydrolase deficiencies and abnormal glycoproteins in mucolipidosis. 3 (pseudo-Hurler polydystrophy).

Authors: E R Berman; G Kohn; S Yatziv; H Stein
Journal: Clin Chim Acta Date: 1974-03 Impact factor: 3.786

7. Nature of the mutation in adult beta-galactosidase deficient patients.

Authors: J S O'Brien; A G Norden
Journal: Am J Hum Genet Date: 1977-03 Impact factor: 11.025

8. Demonstration of neuraminidase activity in human blood serum and human milk using a modified, radioactively labelled alpha1-glycoprotein as substrate.

Authors: R Schauer; R W Veh; M Wember
Journal: Hoppe Seylers Z Physiol Chem Date: 1976-04

9. Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia.

Authors: G H Thomas; R E Tipton; L T Ch'ien; L W Reynolds; C S Miller
Journal: Clin Genet Date: 1978-04 Impact factor: 4.438

10. Mucolipidosis I--a sialidosis.

Authors: J Sphranger; J Gehler; M Cantz
Journal: Am J Med Genet Date: 1977

74 in total

1. Galactosialidosis: neuropathological findings in a case of the late-infantile type.

Authors: K Oyanagi; E Ohama; K Miyashita; H Yoshino; T Miyatake; M Yamazaki; F Ikuta
Journal: Acta Neuropathol Date: 1991 Impact factor: 17.088

2. Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria.

Authors: K Harzer; M Cantz; A C Sewell; S S Dhareshwar; W Roggendorf; R W Heckl; O Schofer; R Thumler; J Peiffer; W Schlote
Journal: Hum Genet Date: 1986-11 Impact factor: 4.132

3. Neuraminidase-1 mediates skeletal muscle regeneration.

Authors: Juliana de Carvalho Neves; Vanessa Rodrigues Rizzato; Alan Fappi; Mariana Miranda Garcia; Gerson Chadi; Diantha van de Vlekkert; Alessandra d'Azzo; Edmar Zanoteli
Journal: Biochim Biophys Acta Date: 2015-05-19

4. Sialidosis Type 1: Giant SSEP and Novel Mutation.

Authors: Sanjeev Kumar Bhoi; Menka Jha; Suprava Naik; Gyatri Devi Palo
Journal: Indian J Pediatr Date: 2019-04-02 Impact factor: 1.967

5. Purification and characterization of sialic acid containing materials accumulated in cultured skin fibroblasts from a patient with type II sialidosis.

Authors: J R Scocca; G H Thomas; C Miller; L Reynolds
Journal: J Inherit Metab Dis Date: 1987 Impact factor: 4.982

Review 6. The map of chromosome 20.

Authors: N E Simpson
Journal: J Med Genet Date: 1988-12 Impact factor: 6.318

7. The simple detection of neuraminic acid-containing urinary oligosaccharides in patients with glycoprotein storage diseases.

Authors: A C Sewell
Journal: J Inherit Metab Dis Date: 1983 Impact factor: 4.982

Sialidosis: a review of human neuraminidase deficiency.