scholarly journals Schindler disease

2019 ◽  
Author(s):  
Yusra Sheikh
Keyword(s):  
Schindler Disease

A case of Schindler disease in the setting of familial cardiomyopathy

2018 ◽  
Vol 123 (2) ◽  
pp. S111
Author(s):  
Damara Ortiz ◽  
Nadene Henderson ◽  
Roxanne Acquaro ◽  
Taraka Donti ◽  
Sara Cathey ◽  
...  
Keyword(s):  
Familial Cardiomyopathy ◽  
Schindler Disease

scholarly journals A New Case of Schindler Disease

2019 ◽  
Vol 6 (11) ◽  
pp. 1
Author(s):  
Rubén García Castro ◽  
Ana María González Pérez ◽  
María Concepción Román Curto ◽  
Javier Cañueto Álvarez ◽  
Alberto Conde Ferreirós ◽  
...  
Keyword(s):  
Schindler Disease

scholarly journals Mutations in PLA2G6 and the riddle of Schindler disease

2006 ◽  
Vol 44 (1) ◽  
pp. e64-e64 ◽  
Author(s):  
S K Westaway ◽  
A Gregory ◽  
S J Hayflick
Keyword(s):  
Schindler Disease

Synthesis of 4-methylumbelliferyl glycosides for the detection of α- and β-D-galactopyranosaminidases

1989 ◽  
Vol 67 (9) ◽  
pp. 1388-1391 ◽  
Author(s):  
R. Szweda ◽  
U. Spohr ◽  
R. U. Lemieux ◽  
D. Schindler ◽  
D. F. Bishop ◽  
...  
Keyword(s):  
Room Temperature ◽  
Equimolar Amount ◽  
Azido Group ◽  
Human Tissues ◽  
Fluorimetric Detection ◽  
Highly Sensitive ◽  
Twofold Excess ◽  
Schindler Disease ◽  
Enzymatic Defect

Reaction at room temperature of either 3,4,6-tri-O-acetyl-2-azido-2-deoxy-α- or -β-D-galactopyranosyl chloride with a twofold excess of 4-methylumbelliferone and silver trifluoromethanesulfonate in dichloromethane containing an equimolar amount of.sym-collidine yielded 4-methylumbelliferyl tri-O-acetyl-2-azido-2-deoxy-α-D-galactopyranoside in 33% yield. The β anomer was formed in 20 and 10% yields, respectively. Reduction of the azido group, acetylation followed by de-O-acetylation, provided the desired 4-methylumbelliferyl 2-acetamido-2-deoxy-α- and -β-D-galactopyranosides (N-acetyl-α- and -β-D-galactopyranosaminides). The α-glycoside proved to be an effective substrate for the highly sensitive fluorimetric detection of N-acetyl-α-D-galactopyranosaminidase activity in human tissues and was used to examine the deficiency of this activity, which is the enzymatic defect in Schindler disease. Keywords: synthesis of 4-methylumbelliferyl N-acetyl-α- and -β-D-galactopyranosaminides, N-acetyl-α-D-galactosaminidase deficiency (Schindler disease).

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