Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1993-2-1
|
| pubmed:abstractText |
Two patients, a 13-year-old boy and his 24-year-old sister, were diagnosed as mannosidosis type II cases, on the basis of both presenting extremely reduced plasma and white blood cell acid-alpha-mannosidase are reported. With the exception of mental retardation and neurosensory deafness the two siblings manifested a wide phenotypic variability. The boy had several facial features indicating a lysosomal storage disorder, as well as spondylolisthesis. His sister, apart from heavy eyebrows and lower jaw prognathism appeared normal.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1015-8146
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
3
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
195-9
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:1472354-Adolescent,
pubmed-meshheading:1472354-Adult,
pubmed-meshheading:1472354-Female,
pubmed-meshheading:1472354-Humans,
pubmed-meshheading:1472354-Intellectual Disability,
pubmed-meshheading:1472354-Lumbar Vertebrae,
pubmed-meshheading:1472354-Male,
pubmed-meshheading:1472354-Mannosidases,
pubmed-meshheading:1472354-Phenotype,
pubmed-meshheading:1472354-Spondylolisthesis,
pubmed-meshheading:1472354-alpha-Mannosidase,
pubmed-meshheading:1472354-alpha-Mannosidosis
|
| pubmed:year |
1992
|
| pubmed:articleTitle |
Phenotypic variability of mannosidosis type II: report of two Greek siblings.
|
| pubmed:affiliation |
Department of Enzymology and Cell Function, P. & A. Kyriakou Children's Hospital, Athens, Greece.
|
| pubmed:publicationType |
Journal Article
|