Neuropathological and ocular changes in the cerebrohepatorenal syndrome
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چکیده
منابع مشابه
Peroxisomal organization in normal and cerebrohepatorenal (Zellweger) syndrome fibroblasts.
The reported absence of morphologically detectable peroxisomes in liver and kidney tissue cells from patients affected by the autosomic recessive, inherited metabolic disease known as cerebrohepatorenal, or Zellweger, syndrome was studied in fibroblasts, assuming it to be a generalized defect. Normal cultured fibroblasts were shown to contain peroxisomes according to morphological, biochemical,...
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THE Bloch-Sulzberger syndrome is a familial condition consisting chiefly of ectodermal defects, of which changes in the skin, nails, hair, teeth, central nervous system, and eyes are the most common. The final dermal phase "incontinentia pigmenti" has received the most attention. This disease can be described as a rare and peculiar abnormality of development found almost exclusively in females ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1971
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197108000-00010