[HTML][HTML] PNPO deficiency
B Plecko, P Mills - 2022 - europepmc.org
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Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
PB Mills, SSM Camuzeaux, EJ Footitt, KA Mills… - Brain, 2014 - academic.oup.com
The first described patients with pyridox (am) ine 5'-phosphate oxidase deficiency all had
neonatal onset seizures that did not respond to treatment with pyridoxine but responded to …
neonatal onset seizures that did not respond to treatment with pyridoxine but responded to …
[HTML][HTML] 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 …
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment
TL Ware, J Earl, GS Salomons… - … Medicine & Child …, 2014 - Wiley Online Library
Pyridox (am) ine phosphate oxidase (PNPO) deficiency causes severe early infantile
epileptic encephalopathy and has been characterized as responding to pyridoxal‐5 …
epileptic encephalopathy and has been characterized as responding to pyridoxal‐5 …
Partial pyridoxine responsiveness in PNPO deficiency
Objective: Autosomal-recessive pyridox (am) ine phosphate oxidase (PNPO) deficiency
causes pyridoxal-5-phosphate (PLP)-dependent epilepsy. We describe partial PNPO …
causes pyridoxal-5-phosphate (PLP)-dependent epilepsy. We describe partial PNPO …
Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined …
Y Sasaki, M Iseki, S Yamaguchi, Y Kurosawa… - Human genetics, 1998 - Springer
Purine nucleoside phosphorylase (PNP) deficiency is a rare immunodeficiency disease
involving a T-lymphocyte-dysfunction that is fatal unless bone marrow transplantation is …
involving a T-lymphocyte-dysfunction that is fatal unless bone marrow transplantation is …
Successful HLA‐identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency
S Delicou, V Kitra‐Roussou, J Peristeri… - Pediatric …, 2007 - Wiley Online Library
PNP deficiency is an autosomal recessive metabolic disorder characterized by severe
combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of …
combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of …
Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients
A Alangari, A Al-Harbi, A Al-Ghonaium… - Annals of Saudi …, 2009 - annsaudimed.net
Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic
disorder that results in combined immunodeficiency, neurologic dysfunction and …
disorder that results in combined immunodeficiency, neurologic dysfunction and …
Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C. 347g> A (P.· Arg116gln) mutation
Abstract Background Pyridoxal-5′-phosphate oxidase (PNPO) deficiency presents as a
severe neonatal encephalopathy responsive to pyridoxal-5′-phosphate (PLP) or …
severe neonatal encephalopathy responsive to pyridoxal-5′-phosphate (PLP) or …
Novel genetic mutations in the first Swedish patient with purine nucleoside phosphorylase deficiency and clinical outcome after hematopoietic stem cell …
N Brodszki, M Svensson, ABP van Kuilenburg… - JIMD Reports, Volume …, 2015 - Springer
Purine nucleoside phosphorylase (PNP) is an enzyme active in the purine salvage pathway.
PNP deficiency caused by autosomal recessive mutations in the PNP gene leads to severe …
PNP deficiency caused by autosomal recessive mutations in the PNP gene leads to severe …