Pediatric neurological syndromes and inborn errors of purine metabolism.
about
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorderPrenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.Nucleotide salvage deficiencies, DNA damage and neurodegenerationInborn errors in purine metabolism: role of 5'-nucleotidases and their involvement in the etiology of neurological impairments.Metabolic disorders of purine metabolism affecting the nervous system.Consequences of impaired purine recycling on the proteome in a cellular model of Lesch-Nyhan disease.NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.Purine metabolism during neuronal differentiation: the relevance of purine synthesis and recycling.Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients.Xanthine Oxidoreductase in Drug Metabolism: Beyond a Role as a Detoxifying Enzyme.Primary immunodeficiency diseases associated with neurologic manifestations.Regulation of adenosine levels during cerebral ischemia.Inborn errors of metabolism underlying primary immunodeficiencies.Mitochondrial Damage and Apoptosis Induced by Adenosine Deaminase Inhibition and Deoxyadenosine in Human Neuroblastoma Cell Lines.Neurological basis of AMP-dependent thermoregulation and its relevance to central and peripheral hyperthermia.A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.Biochemical and Pharmacological Role of A1 Adenosine Receptors and Their Modulation as Novel Therapeutic Strategy.Neurological Manifestations of Primary Immunodeficiency Diseases.Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.The Inside Story of Adenosine.Inborn errors of purine metabolism: clinical update and therapies.
P2860
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P2860
Pediatric neurological syndromes and inborn errors of purine metabolism.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 11 December 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Pediatric neurological syndromes and inborn errors of purine metabolism.
@en
Pediatric neurological syndromes and inborn errors of purine metabolism.
@nl
type
label
Pediatric neurological syndromes and inborn errors of purine metabolism.
@en
Pediatric neurological syndromes and inborn errors of purine metabolism.
@nl
prefLabel
Pediatric neurological syndromes and inborn errors of purine metabolism.
@en
Pediatric neurological syndromes and inborn errors of purine metabolism.
@nl
P2093
P1476
Pediatric neurological syndromes and inborn errors of purine metabolism
@en
P2093
Marcella Camici
Piero Luigi Ipata
Vanna Micheli
P304
P356
10.1016/J.NEUINT.2009.12.003
P577
2009-12-11T00:00:00Z