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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1980-11-20
|
| pubmed:abstractText |
Clinical, radiological and biochemical findings are described in a male newborn with mucolipidosis II (I-cell disease). At birth a characteristic somatic picture, skeletal anomalies, vacuolated lymphocytes in peripheral blood, typical signs of a metabolic disorder, were present. The daily excretion of urinary mucopolysaccharides was within normal range, nevertheless an anomalous pattern consisting in a high amount of dermatan sulfate was found. The excretion of urinary sialyl oligosaccharidases was increased. Cultured skin fibroblasts showed the typical "I-cell" phenomenon. The activities of serveral lysosomal enzymes were strikingly increased in serum, but not in leucocytes. No significant variations of acid hydrolase activities were found in the patient's relatives.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0018-022X
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
35
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
85-95
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading | |
| pubmed:year |
1980
|
| pubmed:articleTitle |
Neonatal mucolipidosis II (I-cell disease): clinical, radiological and biochemical studies in a case.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|