scholarly journals Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India

2011 ◽  
Vol 2011 (dec08 1) ◽  
pp. bcr0920114804-bcr0920114804 ◽  
Author(s):  
M. R. Madkaikar ◽  
S. Kulkarni ◽  
P. Utage ◽  
L. Fairbanks ◽  
K. Ghosh ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Purine Nucleoside Phosphorylase ◽  
Purine Nucleoside ◽  
Nucleoside Phosphorylase ◽  
First Case ◽  
Purine Nucleoside Phosphorylase Deficiency

Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency

2007 ◽  
Vol 29 (2) ◽  
pp. 124-126 ◽  
Author(s):  
Nima Parvaneh ◽  
Mahmoud-Reza Ashrafi ◽  
Mehdi Yeganeh ◽  
Nima Pouladi ◽  
Fatemeh Sayarifar ◽  
...  
Keyword(s):  
Progressive Multifocal Leukoencephalopathy ◽  
Purine Nucleoside Phosphorylase ◽  
Purine Nucleoside ◽  
Nucleoside Phosphorylase ◽  
Purine Nucleoside Phosphorylase Deficiency

Purine Nucleoside Phosphorylase Deficiency in a Patient With Spastic Paraplegia and Recurrent Infections

2007 ◽  
Vol 22 (6) ◽  
pp. 741-743 ◽  
Author(s):  
Ferda Ozkinay ◽  
Sacide Pehlivan ◽  
Huseyin Onay ◽  
Paul van den Berg ◽  
Fadil Vardar ◽  
...  
Keyword(s):  
Purine Nucleoside Phosphorylase ◽  
Purine Nucleoside ◽  
Recurrent Infections ◽  
Spastic Paraplegia ◽  
Nucleoside Phosphorylase ◽  
Purine Nucleoside Phosphorylase Deficiency
Sign in / Sign up

Export Citation Format

Share Document