Résultat(s) 1 - 20 résultats de 22 pour la requête 'Han, Lian-Shu', Temps de recherche: 0,18s Affiner les résultats
  1. 1
    Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA
    Autres auteurs: “...Han, Lian-shu...”
    Article

  2. 2
    Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment
    Autres auteurs: “...Han, Lian-shu...”
    Article

  3. 3
    Clinical presentation and therapeutic outcomes of carnitine deficiency-induced cardiomyopathy
    Autres auteurs: “...Han, Lian-shu...”
    Article

  4. 4
    Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1
    Article

  5. 5
    GLB1 gene mutation and clinical characteristics of a patient with mucopolysaccharidosis type IVB
    Autres auteurs: “...Han, Lian-shu...”
    Article

  6. 6
    Primary carnitine deficiency in 17 patients diagnosis, treatment and follow up
    Article

  7. 7
    Comparison and clinical application of two methods for determination of plasma chitotriosidase activity
    Autres auteurs: “...Han, Lian-shu...”
    Article

  8. 8
    Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia
    Autres auteurs: “...Han, Lian-shu...”
    Article

  9. 9
    Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity
    Autres auteurs: “...Han, Lian-shu...”
    Article

  10. 10
    Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia
    Autres auteurs: “...Han, Lian-shu...”
    Article

  11. 11
    Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III
    Autres auteurs: “...Han, Lian-shu...”
    Article

  12. 12
    Enzymatic diagnosis of 47 cases with mucopolysaccharidosis
    Autres auteurs: “...Han, Lian-Shu...”
    Article

  13. 13
    Clinical and mutational study of a Chinese infant with isovaleric acidemia
    Autres auteurs: “...Han, Lian-shu...”
    Article

  14. 14
    Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China
    Autres auteurs: “...Han, Lian-shu...”
    Article

  15. 15
    Gene mutation analysis in patients with propionic acidemia
    Autres auteurs: “...Han, Lian-shu...”
    Article

  16. 16
    Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation
    Autres auteurs: “...Han, Lian-shu...”
    Article

  17. 17
    Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test
    Autres auteurs: “...Han, Lian-shu...”
    Article

  18. 18
    Both social and economic benefits should be considered simultaneously in prevention and treatment of hereditary metabolic diseases
    Autres auteurs: “...Han, Lian-shu...”
    Article

  19. 19
    Application of tandem mass spectrometry in diagnosis of organic acidemias
    Article

  20. 20
    A discussion on risk factors of final height in 21-hydroxylase deficiency patients
    Autres auteurs: “...Han, Lian-shu...”
    Article

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