Purine nucleoside phosphorylases: properties, functions, and clinical aspects
A Bzowska, E Kulikowska, D Shugar - Pharmacology & therapeutics, 2000 - Elsevier
The ubiquitous purine nucleoside phosphorylases (PNPs) play a key role in the purine
salvage pathway, and PNP deficiency in humans leads to an impairment of T-cell function …
salvage pathway, and PNP deficiency in humans leads to an impairment of T-cell function …
Inborn errors of purine metabolism: clinical update and therapies
S Balasubramaniam, JA Duley… - Journal of inherited …, 2014 - Springer
Inborn errors of purine metabolism exhibit broad neurological, immunological,
haematological and renal manifestations. Limited awareness of the phenotypic spectrum …
haematological and renal manifestations. Limited awareness of the phenotypic spectrum …
The neonate
DJ Atherton, AR Gennery, AJ Cant - Rook's textbook of …, 2004 - books.google.com
The neonatal or newborn period is the first 4 weeks of extrauterine life, whereas infancy is
the whole first year. Infants born alive before the 37th week of gestation (ie 37 weeks after …
the whole first year. Infants born alive before the 37th week of gestation (ie 37 weeks after …
Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood …
LA Myers, MS Hershfield, WT Neale, M Escolar… - The Journal of …, 2004 - Elsevier
Purine nucleoside phosphorylase deficiency is a primary immunodeficiency syndrome
characterized by the triad of recurrent infection, neurologic dysfunction, and autoimmunity …
characterized by the triad of recurrent infection, neurologic dysfunction, and autoimmunity …
Partial purine nucleoside phosphorylase deficiency helps determine minimal activity required for immune and neurological development
E Grunebaum, N Campbell, M Leon-Ponte… - Frontiers in …, 2020 - frontiersin.org
Introduction: Complete or near complete absence of the purine nucleoside phosphorylase
(PNP) enzyme causes a profound T cell immunodeficiency and neurological abnormalities …
(PNP) enzyme causes a profound T cell immunodeficiency and neurological abnormalities …
Bone marrow transplantation for primary immunodeficiency diseases
P Szabolcs, M Cavazzana-Calvo, A Fischer… - Pediatric …, 2010 - pediatric.theclinics.com
Hematopoietic stem cell transplantation (HSCT) has emerged over the past 50 years as a
life-saving therapy for many human diseases. Most recipients of allogeneic HSCT suffer from …
life-saving therapy for many human diseases. Most recipients of allogeneic HSCT suffer from …
A historical review of bone marrow transplantation for immunodeficiencies
RH Buckley - Journal of allergy and clinical immunology, 2004 - jacionline.org
Except for infants with complete DiGeorge syndrome, who have no HLA-identical donors
and who therefore need a cultured allogeneic thymic transplantation, 19 all infants and …
and who therefore need a cultured allogeneic thymic transplantation, 19 all infants and …
Purine and pyrimidine metabolism
N Kamatani, HA Jinnah, RCM Hennekam… - Emery and Rimoin's …, 2021 - Elsevier
Purine and pyrimidine nucleotides are essential for a vast number of biological processes
such as RNA and DNA synthesis and as a component of high-energy nucleotides, eg …
such as RNA and DNA synthesis and as a component of high-energy nucleotides, eg …
Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency
C Baguette, C Vermylen, B Brichard… - Journal of pediatric …, 2002 - journals.lww.com
A 10-month-old girl with a history of recurrent candidiasis, developmental delay, and a
fulminant varicella infection is described. The diagnosis of purine nucleoside phosphorylase …
fulminant varicella infection is described. The diagnosis of purine nucleoside phosphorylase …
Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology
Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive metabolic
disorder characterized by severe combined immunodeficiency and by complex neurologic …
disorder characterized by severe combined immunodeficiency and by complex neurologic …