Résultat(s) 1 - 20 résultats de 28 pour la requête 'Gu, Xue-Fan', Temps de recherche: 0,91s Affiner les résultats
  1. 1
    Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  2. 2
    Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  3. 3
    Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  4. 4
    Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  5. 5
    GLB1 gene mutation and clinical characteristics of a patient with mucopolysaccharidosis type IVB
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  6. 6
    Primary carnitine deficiency in 17 patients diagnosis, treatment and follow up
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  7. 7
    Comparison and clinical application of two methods for determination of plasma chitotriosidase activity
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  8. 8
    Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  9. 9
    Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  10. 10
    Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  11. 11
    Enzymatic diagnosis of 47 cases with mucopolysaccharidosis
    Autres auteurs: “...Gu, Xue-Fan...”
    Article

  12. 12
    Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  13. 13
    Clinical and mutational study of a Chinese infant with isovaleric acidemia
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  14. 14
    Present status and trends of prevention and treatment of lysosomal storage diseases
    Article

  15. 15
    Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  16. 16
    Gene mutation analysis in patients with propionic acidemia
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  17. 17
    Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  18. 18
    Prenatal diagnosis of congenital adrenal hyperplasia in a case
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  19. 19
    Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test
    Autres auteurs: “...Gu, Xue-fan...”
    Article

  20. 20
    Effect of phenylalanine on genes expression of Rho GTPases possible relevance to neuron damage induced by phenylalanine
    Autres auteurs: “...Gu, Xue-fan...”
    Article

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