FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4236062212> ?p ?o ?g. }

• W4236062212 endingPage "378" @default.
• W4236062212 startingPage "378" @default.
• W4236062212 abstract "We agree with Dr.Hartmann that an increased level of methylmalonic acid in urinary organic acids profile is an easy and non-invasive screening test of vitamin B12 deficiency in infants. High sensitivity of methylmalonic aciduria in infants with B12 deficiency is corroborated by the fact that all but one patient from our study 1 Honzik T. Adamovicova A. Smolka V. Magner M. Hruba E. Zeman J. Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency – what have we learned?. Eur J Pediatr Neurol. 2010; 14: 488-495 Abstract Full Text Full Text PDF PubMed Scopus (107) Google Scholar showed this finding. On the other hand, not all infants with methylmalonic aciduria have vitamin B12 deficiency. For example, in a selective screening program for metabolic disorders carried out in the Czech Republic between January 2010 and November 2010, we analysed urinary organic acids profile in 1216 infants from all regions of the country with birth rate 116 000. Increased excretion of methylmalonic acid was found in 96 samples (8%) (the median 30 mg/g creatinine, range 16–5746 mg/g creatinine, controls <15 mg/g; patients with known methylmalonyl-CoA mutase deficiency were excluded). All 96 infants were recommended for B12 analyses by their district paediatricians. However, only six of 16 infants monitored at our out-patient clinic actually had vitamin B12 deficiency. In remaining 10 infants, the methylmalonic aciduria was transitory and could not be explained by vitamin B12 deficiency (all infants had vitamin B12 and holotranscobalamin levels at reference range). In addition, the cost of organic acids measurement is three times higher than the vitamin B12 analysis. Furthermore, the B12 analysis is available in most biochemical laboratories across the country, while the organic acids profile is available in the Czech Republic only in three laboratories. This impedes the use of organic acids analysis as a routine screening method for vitamin B12 deficient infants. Finally, infants with failure to thrive or developmental delay usually undergo laboratory work-up, so adding blood vitamin B12 to the list of biochemical tests does not increase invasiveness. Re: Honzik T, Adamovicova A, Smolka V, Magner M, Hruba E, Zeman J. Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency – What have we learned? Eur Jour Ped Neurol 14 (2010) 488–495European Journal of Paediatric NeurologyVol. 15Issue 4PreviewThe observation that 40 breastfed infants and small toddlers out of approximately 5000 children referred to the participating centers with suspected metabolic disease had nutritional cobalamin deficiency, is highly interesting. The inclusion criteria were described as “low or borderline cobalamin level in serum in breastfed infants, causing high urinary-methylmalonic acid excretion and/or high plasma-homocysteine concentration, reversible on enteral cobalamin substitution”. They found that all but one infant had methylmalonic aciduria, and 80% had hyperhomocysteinemia. Full-Text PDF" @default.
• W4236062212 created "2022-05-12" @default.
• W4236062212 creator A5034969299 @default.
• W4236062212 creator A5048137178 @default.
• W4236062212 date "2011-07-01" @default.
• W4236062212 modified "2023-10-14" @default.
• W4236062212 title "Response to the ‘letter to the Editor’" @default.
• W4236062212 doi "https://doi.org/10.1016/j.ejpn.2011.01.003" @default.
• W4236062212 hasPublicationYear "2011" @default.
• W4236062212 type Work @default.
• W4236062212 citedByCount "0" @default.
• W4236062212 crossrefType "journal-article" @default.
• W4236062212 hasAuthorship W4236062212A5034969299 @default.
• W4236062212 hasAuthorship W4236062212A5048137178 @default.
• W4236062212 hasConcept C126322002 @default.
• W4236062212 hasConcept C134018914 @default.
• W4236062212 hasConcept C187212893 @default.
• W4236062212 hasConcept C2779405478 @default.
• W4236062212 hasConcept C2779750884 @default.
• W4236062212 hasConcept C2779821038 @default.
• W4236062212 hasConcept C2780306776 @default.
• W4236062212 hasConcept C2910256814 @default.
• W4236062212 hasConcept C71924100 @default.
• W4236062212 hasConcept C90924648 @default.
• W4236062212 hasConceptScore W4236062212C126322002 @default.
• W4236062212 hasConceptScore W4236062212C134018914 @default.
• W4236062212 hasConceptScore W4236062212C187212893 @default.
• W4236062212 hasConceptScore W4236062212C2779405478 @default.
• W4236062212 hasConceptScore W4236062212C2779750884 @default.
• W4236062212 hasConceptScore W4236062212C2779821038 @default.
• W4236062212 hasConceptScore W4236062212C2780306776 @default.
• W4236062212 hasConceptScore W4236062212C2910256814 @default.
• W4236062212 hasConceptScore W4236062212C71924100 @default.
• W4236062212 hasConceptScore W4236062212C90924648 @default.
• W4236062212 hasIssue "4" @default.
• W4236062212 hasLocation W42360622121 @default.
• W4236062212 hasOpenAccess W4236062212 @default.
• W4236062212 hasPrimaryLocation W42360622121 @default.
• W4236062212 hasRelatedWork W1518783485 @default.
• W4236062212 hasRelatedWork W1867235306 @default.
• W4236062212 hasRelatedWork W1990010981 @default.
• W4236062212 hasRelatedWork W2006522951 @default.
• W4236062212 hasRelatedWork W2053318698 @default.
• W4236062212 hasRelatedWork W2072453059 @default.
• W4236062212 hasRelatedWork W2082917734 @default.
• W4236062212 hasRelatedWork W2322295556 @default.
• W4236062212 hasRelatedWork W2377324333 @default.
• W4236062212 hasRelatedWork W3029548570 @default.
• W4236062212 hasVolume "15" @default.
• W4236062212 isParatext "false" @default.
• W4236062212 isRetracted "false" @default.
• W4236062212 workType "article" @default.