Résultat(s) 1 - 14 résultats de 14 pour la requête 'Qiu, W J', Temps de recherche: 0,17s Affiner les résultats
  1. 1
    Clinical characteristics and efficacy of glyceryl phenylbutyrate treatment in 20 pediatric patients with urea cycle disorder

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  2. 2
    Analysis of the regional distribution differences of common variations of the MMACHC gene in cblC methylmalonic acidemia patients
    Autres auteurs: “...Qiu, W J...”

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  3. 3
    Clinical characteristics of 111 cases with mucopolysaccharidosis ⅣA
    Autres auteurs: “...Qiu, W J...”

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  4. 4
    Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids
    Autres auteurs: “...Qiu, W J...”

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  5. 5
    Clinical and StAR genetic characteristics of 33 children with congenital lipoid adrenal hyperplasia
    Autres auteurs: “...Qiu, W J...”

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  6. 6
    Analysis of six children with 3-methylglutaconic aciduria
    Autres auteurs: “...Qiu, W J...”

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  7. 7
    Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia
    Autres auteurs: “...Qiu, W J...”

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  8. 8
    Crohn's disease in glycogen storage disease type I b a case report
    Autres auteurs: “...Qiu, W J...”

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  9. 9
    Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy
    Autres auteurs: “...Qiu, W J...”

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  10. 10
    Mass spectrometry combined with gene analysis for prenatal diagnosis of glutaric acidemia type Ⅰ
    Autres auteurs: “...Qiu, W J...”

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  11. 11
    Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C
    Autres auteurs: “...Qiu, W J...”

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  12. 12
    Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening
    Autres auteurs: “...Qiu, W J...”

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  13. 13
    Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency
    Autres auteurs: “...Qiu, W J...”

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  14. 14
    Clinical and genetic analysis of an infant with isolated 17, 20-lyase deficiency
    Autres auteurs: “...Qiu, W J...”

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