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NIEMANN‐PICK DISEASE AND GIANT CELL TRANSFORMATION OF THE LIVER
Author(s) -
ASHKENAZI A.,
YAROM R.,
GUTMAN A.,
ABRAHAMOV A.,
RUSSELL A.
Publication year - 1971
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1971.tb06658.x
Subject(s) - medicine , niemann–pick disease , jaundice , disease , sphingomyelin , autopsy , transformation (genetics) , pathology , pediatrics , genetics , biology , gene , cholesterol
Summary This report presents three siblings with neonatal jaundice who died before the age of three months. They were shown on autopsy to be suffering from Niemann‐Pick disease together with a giant cell transformation of the liver. The resemblance of these cases to previously reported examples of the above mentioned double condition is stressed, and a suggestion is made that this variant of the Niemann‐Pick disease presents a special genotypic syndrome within the group with the biochemical disorder broadly classified as sphingomyelin lipidosis.