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Irish Child Health Database - Peer Reviewed Papers

Database Search

How to use this database.

• Method 1- uses a free natural language approach.

  After choosing the object of the search – by ticking title, abstract, aims and objective, or author - enter a term, word or name in the ‘Search’ box to return references answering your research question.

• Method 2 - utilises key words.

  Those key words assigned from thesauruses of controlled vocabulary by the trained coders of international bibliographic databases.
  The controlled vocabularies key word are listed alphanumerically under 'Bibliographic database keywords' .
  Use the drop down menu to identity which 'key words' you are interested in to return references to answer your research question.

• Method 3 - is based on the indexing system

  developed by the researchers who compiled this database.
  It adopts a thematic approach to mapping Irish child health research. The themed areas represent outcomes mapped to the International Classification of Disease version 10 (ICD-10) or one of 23 other health-related themed outcomes. Themes are defined in Tables 5 to 7 (of the study report).
  Use the alphabetic drop down menu under ‘ICD-10 or themed health-related outcomes’ to identity which themed areas you are interested in to select references to answer your research question.

• Method 4 – allows papers to be searched by Study type.

  Indexing by study type offers a valuable insight into understanding the population impact of the topic of interest. More than 20 study types were identified across the 2,152 study papers. These are defined in Table 3 (of the study report). Within 'Study type' papers are further stratification by geographical region (Table 49), topic area of interest and study aims and objectives.
  Click on 'Study type' to select the type of study of interest, progressively select sub-categories by topic area or other sub-classification of interest to answer your research question.

The complete background, methods and findings from this mapping exercise are detailed in the study report.

Glutaryl-CoA Dehydrogenase

Your search returns 4 documents

• 1.   Glutaric aciduria type I: outcome in the Republic of Ireland

  The aim of this study was to examine glutaric aciduria type I in the Republic of Ireland

  

  Abstract:

  Twenty-one patients have been diagnosed with glutaric aciduria type I over a 16-year period in the Republic of Ireland, 11 following clinical presentation and 10 following a high-risk screen. Nineteen have been managed with diet. Eight patients have died, of whom 7 were diagnosed clinically. Six had dystonic and one spastic cerebral palsy. Of the 11 patients who did not have cerebral more...

  International Classification:

  Endocrine, nutritional and metabolic diseases - Metabolic disorders - glutaric aciduria type 1

  Categories:

  glutaric aciduria type I:

  Geography:

  Republic of Ireland

  J Inherit Metab Dis, Vol: 27 Page: 917-20 2004
  E. R. Naughten; P. D. Mayne; A. A. Monavari; S. I. Goodman; G. Sulaiman; D. T. Croke

  [Preview] [Read]

• 2.   Neuroimaging findings in glutaric aciduria type 1

  This study reviewed the imaging features of glutaric aciduria type 1, and to document the findings not previously reported and compare our findings with the imaging characteristics of GA-1 previously reported

  

  Abstract:

  OBJECTIVE: To review the imaging features of glutaric aciduria type 1 (GA-1) in a group of 20 patients, the largest published series to date. To document the findings not previously reported and compare our findings with the imaging characteristics of GA-1 previously reported in the literature. MATERIALS AND METHODS: For 14 patients the original scans were examined and in the remaining more...

  International Classification:

  Diseases of the digestive system - Diseases of appendix - appendicoliths

  Categories:

  glutaric aciduria type 1

  Geography:

  Republic of Ireland

  Pediatr Radiol, Vol: 33 Page: 823-30 December 2003
  E. L. Twomey; E. R. Naughten; V. B. Donoghue; S. Ryan

  [Preview] [Read]

• 3.   Ocular findings in glutaric aciduria type 1

  This study determines the nature and course of ocular abnormalities in glutaric aciduria (acidemia) type 1 (GA1).

  

  Abstract:

  PURPOSE: To determine the nature and course of ocular abnormalities in glutaric aciduria (acidemia) type 1 (GA1). METHODS: Fifteen children with GA1 have been studied in the Republic of Ireland. A retrospective review of the records of the 6 children who died during their illness and prospective clinical examination of 9 survivors were performed. RESULTS: Seven of the 15 children had more...

  International Classification:

  Endocrine, nutritional and metabolic diseases - Metabolic disorders - glutaric aciduria type 1

  Categories:

  ocular abnormalities in glutaric aciduria

  Geography:

  Republic of Ireland

  J Pediatr Ophthalmol Strabismus, Vol: 37 Page: 289-93 2000 Sep-Oct
  N. A. Kafil-Hussain; A. Monavari; R. Bowell; P. Thornton; E. Naughten; M. O'Keefe

  [Preview] [Read]

• 4.   Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype

  This case report discusses profound neurological presentation resulting from homozygosity - for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype

  

  International Classification:

  Neurological

  Categories:

  neurological abnormalities

  Geography:

  Republic of Ireland

  J Inherit Metab Dis, Vol: 26 Page: 72-4 2003
  E. P. Treacy; A. Lee-Chong; G. Roche; B. Lynch; S. Ryan; S. Goodman

  [Preview] [Read]