Purine Nucleoside Phosphorylase Deficiency: A New Case Report and Identification of Two Novel Mutations (Gly156A1a and Val217Ile), Only One of Which (Gly156A1a) is Deleterious

2002 ◽  
Vol 105 (1) ◽  
pp. 75-80 ◽  
Author(s):  
Hamid Jack Moallem ◽  
Gladys Taningo ◽  
C.K. Jiang ◽  
Rochelle Hirschhorn ◽  
Senih Fikrig
Keyword(s):  
Case Report ◽  
Purine Nucleoside Phosphorylase ◽  
Purine Nucleoside ◽  
Novel Mutations ◽  
Nucleoside Phosphorylase ◽  
Purine Nucleoside Phosphorylase Deficiency

Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency

2008 ◽  
Vol 41 (4-5) ◽  
pp. 350-352 ◽  
Author(s):  
Nima Parvaneh ◽  
Shahram Teimourian ◽  
Gabriella Jacomelli ◽  
Mohsen Badalzadeh ◽  
Matteo Bertelli ◽  
...  
Keyword(s):  
Purine Nucleoside Phosphorylase ◽  
Purine Nucleoside ◽  
Novel Mutations ◽  
Nucleoside Phosphorylase ◽  
Purine Nucleoside Phosphorylase Deficiency

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
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