Treffer 1 - 20 von 28 für Suche 'Gu, Xue-fan', Suchdauer: 0,78s Treffer weiter einschränken
  1. 1
    Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

  2. 2
    Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

  3. 3
    Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

  4. 4
    GLB1 gene mutation and clinical characteristics of a patient with mucopolysaccharidosis type IVB
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

  5. 5
    Primary carnitine deficiency in 17 patients diagnosis, treatment and follow up
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

  6. 6
    Comparison and clinical application of two methods for determination of plasma chitotriosidase activity
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

  7. 7
    Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

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

  9. 9
    Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

  10. 10
    Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

  11. 11
    Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

  12. 12
    Enzymatic diagnosis of 47 cases with mucopolysaccharidosis
    Weitere Verfasser: “...Gu, Xue-Fan...”
    Aufsatz

  13. 13
    Present status and trends of prevention and treatment of lysosomal storage diseases
    Aufsatz

  14. 14
    Clinical and mutational study of a Chinese infant with isovaleric acidemia
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

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

  16. 16
    Gene mutation analysis in patients with propionic acidemia
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

  17. 17
    Prenatal diagnosis of congenital adrenal hyperplasia in a case
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

  18. 18
    Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

  19. 19
    History and prospect of the neonatal screening program for inborn errors of metabolism
    Aufsatz

  20. 20
    Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test
    Weitere Verfasser: “...Gu, Xue-fan...”
    Aufsatz

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