rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
3
|
pubmed:dateCreated |
1985-12-13
|
pubmed:abstractText |
A patient is described who has Morquio syndrome (MPS IVA). He is a member of the Hutterite Brethren and genealogic analysis discloses a high inbreeding coefficient for the proband. The proband's sibship is segregating two autosomal recessive disorders, ie, MPS IVA and infantile hypophosphatasia. Two other families each have one or the other of these diseases but not both. The three families are distantly related.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Nov
|
pubmed:issn |
0148-7299
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
22
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
463-75
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:3933344-Cartilage,
pubmed-meshheading:3933344-Chondroitinases and Chondroitin Lyases,
pubmed-meshheading:3933344-Chondroitinsulfatases,
pubmed-meshheading:3933344-Consanguinity,
pubmed-meshheading:3933344-Ethnic Groups,
pubmed-meshheading:3933344-Genetics, Population,
pubmed-meshheading:3933344-Glycosaminoglycans,
pubmed-meshheading:3933344-Humans,
pubmed-meshheading:3933344-Hypophosphatemia, Familial,
pubmed-meshheading:3933344-Male,
pubmed-meshheading:3933344-Mucopolysaccharidosis IV,
pubmed-meshheading:3933344-Pedigree,
pubmed-meshheading:3933344-Religion,
pubmed-meshheading:3933344-Syndrome
|
pubmed:year |
1985
|
pubmed:articleTitle |
Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred.
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|