Linked Life Data

8142230

Source:http://linkedlifedata.com/resource/pubmed/id/8142230

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1994-5-4
pubmed:abstractText
We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, cerebral calcification, mental retardation, band keratopathy, cataracts, glaucoma and short stature. Severe metabolic acidosis and hypokalaemia were linked to an abnormally low renal threshold for bicarbonate reabsorption (8 mmol/l). Maximal rates of urinary excretion of titratable acid and ammonium were normal; erythrocyte carbonic anhydrase II was normal. This rare case represents a systemic disease with a distinct clinical entity which may be transmitted by autosomal recessive inheritance.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0931-041X
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
70-1
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Persistent isolated proximal renal tubular acidosis--a systemic disease with a distinct clinical entity.
pubmed:affiliation
Department of Paediatrics, Faculty of Medicine, University of Tokyo, Japan.
pubmed:publicationType
Journal Article, Case Reports