Treffer 1 - 20 von 22 für Suche 'Han, Lian-shu', Suchdauer: 3,42s Treffer weiter einschränken
  1. 1
    Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  2. 2
    Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  3. 3
    Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1
    Aufsatz

  4. 4
    Clinical presentation and therapeutic outcomes of carnitine deficiency-induced cardiomyopathy
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  5. 5
    Primary carnitine deficiency in 17 patients diagnosis, treatment and follow up
    Aufsatz

  6. 6
    Comparison and clinical application of two methods for determination of plasma chitotriosidase activity
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  7. 7
    GLB1 gene mutation and clinical characteristics of a patient with mucopolysaccharidosis type IVB
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  8. 8
    Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  9. 9
    Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  10. 10
    Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  11. 11
    Enzymatic diagnosis of 47 cases with mucopolysaccharidosis
    Weitere Verfasser: “...Han, Lian-Shu...”
    Aufsatz

  12. 12
    Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  13. 13
    Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  14. 14
    Gene mutation analysis in patients with propionic acidemia
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  15. 15
    Clinical and mutational study of a Chinese infant with isovaleric acidemia
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  16. 16
    Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  17. 17
    Application of tandem mass spectrometry in diagnosis of organic acidemias
    Aufsatz

  18. 18
    Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  19. 19
    Both social and economic benefits should be considered simultaneously in prevention and treatment of hereditary metabolic diseases
    Weitere Verfasser: “...Han, Lian-shu...”
    Aufsatz

  20. 20
    Molecular genetic analysis of congenital lipoid adrenal hyperplasia
    Weitere Verfasser: “...Han, Lian-Shu...”
    Aufsatz

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