1964
DOI: 10.1159/000254765
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Angiokeratoma corporis diffusum Fabry (Thesaurismosis hereditaria Ruiter-Pompen-Wyers)

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1965
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Cited by 49 publications
(10 citation statements)
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“…One of us (R ) [13] stressed the diagnostic significance of demon strating the lipid storage by means of skin biopsies. The co-author [4] was able to confirm the value of this m ethod in several cases. Wise [17], however, believes th at this technique has not proved a reliable method of diagnosis.…”
Section: Polariscopic Examinationmentioning
confidence: 66%
“…One of us (R ) [13] stressed the diagnostic significance of demon strating the lipid storage by means of skin biopsies. The co-author [4] was able to confirm the value of this m ethod in several cases. Wise [17], however, believes th at this technique has not proved a reliable method of diagnosis.…”
Section: Polariscopic Examinationmentioning
confidence: 66%
“…Storage of Gb3 in cells of the reticuloendothelial system also occurs in AFD [1] and has been known since the original bone marrow aspirate and autopsy studies of patients with AFD demonstrated the presence of vacuolated or lipid-laden cells in the bone marrow, lymph nodes, spleen and liver [2,3]. Data on the histopathology of the spleen is limited to a few early studies of autopsy specimens [2] and of biopsies taken at laparotomy [4].…”
Section: Introductionmentioning
confidence: 99%
“…Sporadical ly, female carriers with renal involvement have been reported [13,14,[20][21][22][23][24][25][26][27][28][29][30][31][32][33], Most of them were character ized by either no or only minor degrees of renal failure, an atypical clinical course, and/or absence of biochemical diagnosis of the disease. Our female patient developed progressive renal failure with, as light microscopy re vealed, focal and segmental glomerulosclerosis, a Finding compatible with degenerative renal changes in Fabry dis ease [2,26].…”
Section: Discussionmentioning
confidence: 99%