Philip K Frykman

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Mice deficient in cholesterol 7alpha-hydroxylase, the rate-limiting enzyme of bile acid biosynthesis, were constructed by targeted disruption of the Cyp7 gene. The introduced mutation removed exons 3-5 of the gene and gave rise to a null allele that encoded no immunoreactive or enzymatically active protein. Heterozygous carriers of the disrupted gene(More)
BACKGROUND Infantile myofibromatosis is a rare mesenchymal disorder of infancy that can extensively involve the viscera including the gastrointestinal tract. CASE PRESENTATION In this report, an exceptional case of infantile myofibromatosis is described in which rectal prolapse and sigmoid colo-colonic intussusception were the initial presentations of(More)
CASE REPORT We present a case of a child born with a birthmark over the lumbar spine, which harbored a pinhole-sized opening. At 6 months of age the child presented with fever of unknown origin. Subsequent lower extremity pain resulted in imaging studies that revealed a spinal mass with extension into the posterior mediastinum. At operation, the child was(More)
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