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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.

Mutagenesis, Site-Directed

Your search returns 2 documents

• 1.   Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase

  This case report 2 mutations, E255- and G291D, identified in the nicotinamide adenine dinucleotide -binding lobe of cytb(5)r in previously reported patients, and detection of a further novel mutation, D239G, in this lobe in two unrelated Irish families

  

  Abstract:

  Type I recessive congenital methaemoglobinaemia (RCM), caused by the reduced form of nicotinamide adenine dinucleotide (NADH)-cytochrome b(5) reductase (cytb(5)r) deficiency, manifests clinically as cyanosis without neurological dysfunction. Two mutations, E255- and G291D, have been identified in the NADH-binding lobe of cytb(5)r in previously reported patients, and we have detected a more...

  International Classification:

  Congenital malformations, deformations and chromosomal abnormalities - Report

  Categories:

  mutations of the nicotinamide adenine dinucleotide -binding lobe of cytb(5)r

  Geography:

  Northern Ireland

  Br J Haematol, Vol: 129 Page: 847-53 June 2005
  M. J. Percy; L. J. Crowley; C. A. Davis; M. F. McMullin; G. Savage; J. Hughes; C. McMahon; R. J. Quinn; O. Smith; M. J. Barber; T. R. Lappin

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• 2.   The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive

  This study aimed to examined the temperature sensitive of Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based (mass spectometry ) newborn screening

  

  Abstract:

  Medium-chain acyl-CoA dehydrogenase (MCAD) is a homotetrameric flavoprotein which catalyses the initial step of the beta-oxidation of medium-chain fatty acids. Mutations in MCAD may cause disease in humans. A Y42H mutation is frequently found in babies identified by newborn screening with MS/MS, yet there are no reports of patients presenting clinically with this mutation. As a basis more...

  International Classification:

  Effectiveness of measurement tool - temperature sensitive of Y42H mutation in medium-chain acyl-CoA dehydrogenase

  Geography:

  Republic of Ireland

  Eur J Biochem, Vol: 271 Page: 4053-63 October 2004
  L. O'Reilly; P. Bross; T. J. Corydon; S. E. Olpin; J. Hansen; J. M. Kenney; S. E. McCandless; D. M. Frazier; V. Winter; N. Gregersen; P. C. Engel; B. S. Andresen

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