High Performance Liquid Chromatography for the Detection of Homozygotes and Heterozygotes of Niemann-Pick Disease

Jungalwala, Firoze B.; Milunsky, Aubrey

doi:10.1203/00006450-197805000-00008

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2009

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Cited by 6 publications

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“…Yatziv et al have remarked on a similar discrepancy between the liver and fibroblast enzyme levels in other cases (8). Differences have also been described in the isoelectric pattern of the sphingomyelinase isozymes in Niemann-Pick type C cases but this finding is also variable and not present in every case (6,7,9,10).…”

Section: Discussionmentioning

confidence: 87%

Niemann‐Pick Variant Lipidosis Presenting as “Neonatal Hepatitis”

Semeraro,

Riely,

Kolodny

et al. 1986

J. pediatr. gastroenterol. nutr.

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Summary: Neonatal hepatitis is a nonspecific term that may include a variety of disease entities. Two patients are presented who developed jaundice in the neonatal period and progressive hepatosplenomegaly. The infants were initially felt to have “neonatal hepatitis” but were subsequently found to have Niemann‐Pick disease. Biochemical investigation revealed normal levels of sphingomyelinase activity in leukocytes and liver but diminished levels in cultured skin fibroblasts, compatible with Niemann‐Pick type C.

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