H K Park

Duke University Medical Center, Durham, NC, United States

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Publications (2)4.45 Total impact

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    ABSTRACT: Uncultured trophoblasts obtained from chorionic villus biopsy during the gestation period of 8-12 weeks were assayed for alpha-glucosidase activity using maltose as the substrate. Only one major form of maltase activity with a pH optimum at 4.0 was demonstrated. Using this method, we performed prenatal diagnosis on three pregnancies at risk for the infantile form of type II glycogen storage disease. Two affected fetuses and one unaffected fetus were predicted and the diagnosis was subsequently confirmed. The maltose assay offered a direct, simple, and sensitive method for prenatal diagnosis of Pompe's disease in the first trimester.
    Prenatal Diagnosis 04/1992; 12(3):169-73. · 2.68 Impact Factor
  • H K Park, S G Kahler, Y T Chen
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    ABSTRACT: Neutropenia, neutrophil dysfunction, and recurrent infections are important manifestations of glycogen storage disease type Ib. We report here a child who has had adequate metabolic control, but developed brain abscess, an infection not previously described in this disease. This case provides further evidence that the neutrophil anomaly is related to the basic enzyme defect, not secondary to the metabolic derangement.
    Acta paediatrica 12/1991; 80(11):1103-6. · 1.77 Impact Factor