Linked Life Data

2515372

Source:http://linkedlifedata.com/resource/pubmed/id/2515372

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1990-3-5
pubmed:abstractText
We report on the long-term medical and neurodevelopmental follow-up of a patient with the rare and potentially lethal disease, holocarboxylase synthetase deficiency. He was originally treated prenatally with biotin megatherapy and for 9 years with 6 mg/day since his only episode of fulminant acidosis at 3 months of age. While growth and general health have been normal, the patient has exhibited signs of minimal brain dysfunction. However, evaluation of unaffected siblings suggests that this may be unrelated to his metabolic disease. A review of the literature and recommendations for optimal treatment are provided.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
312-6
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature.
pubmed:affiliation
Division of Biochemical Development and Molecular Diseases, Children's Hospital of Philadelphia, PA.
pubmed:publicationType
Journal Article, Comparative Study, Review, Case Reports