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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1995-2-16
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pubmed:abstractText |
A three-generation family with members affected by angiokeratoma corporis diffusum (ACD) and arteriovenous fistulas of the legs is described. Our purpose was to investigate possible lysosomal storage defects previously described in association with ACD.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0003-987X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
131
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
57-62
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pubmed:dateRevised |
2008-3-17
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pubmed:meshHeading |
pubmed-meshheading:7826098-Adolescent,
pubmed-meshheading:7826098-Adult,
pubmed-meshheading:7826098-Aged,
pubmed-meshheading:7826098-Aged, 80 and over,
pubmed-meshheading:7826098-Arteriovenous Fistula,
pubmed-meshheading:7826098-Case-Control Studies,
pubmed-meshheading:7826098-Fabry Disease,
pubmed-meshheading:7826098-Female,
pubmed-meshheading:7826098-Fibroblasts,
pubmed-meshheading:7826098-Genes, Dominant,
pubmed-meshheading:7826098-Humans,
pubmed-meshheading:7826098-Hypertrophy,
pubmed-meshheading:7826098-Leg,
pubmed-meshheading:7826098-Leukocytes,
pubmed-meshheading:7826098-Lysosomes,
pubmed-meshheading:7826098-Male,
pubmed-meshheading:7826098-Middle Aged,
pubmed-meshheading:7826098-Neuraminidase,
pubmed-meshheading:7826098-Pedigree,
pubmed-meshheading:7826098-Skin,
pubmed-meshheading:7826098-alpha-Galactosidase,
pubmed-meshheading:7826098-alpha-L-Fucosidase,
pubmed-meshheading:7826098-beta-Galactosidase
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pubmed:year |
1995
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pubmed:articleTitle |
Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders.
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pubmed:affiliation |
Department of Dermatology, Brescia University Hospital, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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