Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.
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Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan diseaseIn Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.Brain white matter volume abnormalities in Lesch-Nyhan disease and its variantsLoss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.The human β-amyloid precursor protein: biomolecular and epigenetic aspects.The Use of Perinatal 6-Hydroxydopamine to Produce a Rodent Model of Lesch-Nyhan Disease.Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan disease.Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome.New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen.Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
P2860
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P2860
Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on December 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Regional brain volume abnormal ...... ants: a cross-sectional study.
@en
Regional brain volume abnormal ...... ants: a cross-sectional study.
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Regional brain volume abnormal ...... ants: a cross-sectional study.
@en
Regional brain volume abnormal ...... ants: a cross-sectional study.
@nl
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Regional brain volume abnormal ...... ants: a cross-sectional study.
@en
Regional brain volume abnormal ...... ants: a cross-sectional study.
@nl
P2093
P2860
P1433
P1476
Regional brain volume abnormal ...... ants: a cross-sectional study.
@en
P2093
Barry Gordon
David J Schretlen
H A Jinnah
James C Harris
Mark Varvaris
Tiffany E Ho
Tracy D Vannorsdall
P2860
P304
P356
10.1016/S1474-4422(13)70238-2
P577
2013-12-01T00:00:00Z