Mitochondrial cytopathies, phenotypic heterogeneity and a high incidence.

Hdl Handle:
http://hdl.handle.net/10147/128347
Title:
Mitochondrial cytopathies, phenotypic heterogeneity and a high incidence.
Authors:
Ryan, E; King, M D; Rustin, P; Mayne, P D; Brown, G K; Monavari, A A; Walsh, R; Treacy, E P
Affiliation:
National Centre for Inherited Metabolic Disorders, The Children's University Hospital, Temple St, Dublin, Ireland. eileen.treacy@tsch.ie
Citation:
Mitochondrial cytopathies, phenotypic heterogeneity and a high incidence. 2006, 99 (9):262-4 Ir Med J
Journal:
Irish medical journal
Issue Date:
Oct-2006
URI:
http://hdl.handle.net/10147/128347
PubMed ID:
17144232
Abstract:
Mitochondrial respiratory chain disorders account for significant and varied presentations in paediatric practice. The true prevalence of these disorders in the paediatric population is still not well documented with predicted geographic variation. We report a retrospective analysis over a seven year period of cases presenting to a tertiary care centre and associated clinical features. The overall prevalence of mitochondrial disorders in our population is higher than expected (1/9,000 births), explained in part by multiple presentations in a consanguineous subgroup of the population (Irish travellers).
Item Type:
Article
Language:
en
MeSH:
Humans; Incidence; Ireland; Mitochondrial Diseases; Phenotype
ISSN:
0332-3102
Sponsors:
Reproduced with permission from the Irish Medical Journal

Full metadata record

DC FieldValue Language
dc.contributor.authorRyan, Een
dc.contributor.authorKing, M Den
dc.contributor.authorRustin, Pen
dc.contributor.authorMayne, P Den
dc.contributor.authorBrown, G Ken
dc.contributor.authorMonavari, A Aen
dc.contributor.authorWalsh, Ren
dc.contributor.authorTreacy, E Pen
dc.date.accessioned2011-04-19T11:34:15Z-
dc.date.available2011-04-19T11:34:15Z-
dc.date.issued2006-10-
dc.identifier.citationMitochondrial cytopathies, phenotypic heterogeneity and a high incidence. 2006, 99 (9):262-4 Ir Med Jen
dc.identifier.issn0332-3102-
dc.identifier.pmid17144232-
dc.identifier.urihttp://hdl.handle.net/10147/128347-
dc.description.abstractMitochondrial respiratory chain disorders account for significant and varied presentations in paediatric practice. The true prevalence of these disorders in the paediatric population is still not well documented with predicted geographic variation. We report a retrospective analysis over a seven year period of cases presenting to a tertiary care centre and associated clinical features. The overall prevalence of mitochondrial disorders in our population is higher than expected (1/9,000 births), explained in part by multiple presentations in a consanguineous subgroup of the population (Irish travellers).-
dc.description.sponsorshipReproduced with permission from the Irish Medical Journalen
dc.language.isoenen
dc.subject.meshHumans-
dc.subject.meshIncidence-
dc.subject.meshIreland-
dc.subject.meshMitochondrial Diseases-
dc.subject.meshPhenotype-
dc.titleMitochondrial cytopathies, phenotypic heterogeneity and a high incidence.en
dc.typeArticleen
dc.contributor.departmentNational Centre for Inherited Metabolic Disorders, The Children's University Hospital, Temple St, Dublin, Ireland. eileen.treacy@tsch.ieen
dc.identifier.journalIrish medical journalen
dc.description.provinceLeinster-

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