Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.
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Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan diseaseClinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathwaysLesch-Nyhan Syndrome in an Indian Child.The renal phenotype of allopurinol-treated HPRT-deficient mouse.Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.HPRT deficiency in Spain: what have we learned in the past 30 years (1984-2013)?Onychotillomania: Diagnosis and Management.Impairment of adenylyl cyclase 2 function and expression in hypoxanthine phosphoribosyltransferase-deficient rat B103 neuroblastoma cells as model for Lesch-Nyhan disease: BODIPY-forskolin as pharmacological tool.Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome.Uric acid, an important screening tool to detect inborn errors of metabolism: a case series.New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.Late diagnosis of Lesch-Nyhan disease variant.Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype Correlation.Onychotillomania: clinicopathologic correlations.Molecular characterization and structure analysis of HPRT in a Chinese patient with Lesch-Nyhan disease.Skewed X inactivation in Lesch-Nyhan disease carrier females.Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
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P2860
Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.
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2012 nî lūn-bûn
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2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
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2012年學術文章
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name
Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.
@ast
Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.
@en
type
label
Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.
@ast
Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.
@en
prefLabel
Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.
@ast
Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.
@en
P2093
P2860
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P1476
Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.
@en
P2093
H A Jinnah
Juan G Puig
Rosa J Torres
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P2888
P304
P356
10.1007/S11926-011-0231-5
P577
2012-04-01T00:00:00Z