Differentiating Galactosemia from other diseases: Difference between revisions
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==Overview== | |||
==Differentiating Galactosemia from other Diseases== | ==Differentiating Galactosemia from other Diseases== | ||
[[Galactosemia]] needs to differentiated from other [[diseases]] like: | |||
* [[Biliary]] [[atresia]] <ref name="pmid10876013">{{cite journal| author=Sakura N, Mizoguchi N, Ono H, Yamaoka H, Hamakawa M| title=Congenital biliary atresia detected as a result of galactosemia screening by the Beutler method. | journal=Clin Chim Acta | year= 2000 | volume= 298 | issue= 1-2 | pages= 175-9 | pmid=10876013 | doi=10.1016/s0009-8981(00)00220-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10876013 }} </ref> | |||
* [[Fanconi-Bickel]] [[syndrome]] <ref name="pmid9266402">{{cite journal| author=Müller D, Santer R, Krawinkel M, Christiansen B, Schaub J| title=Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. | journal=J Inherit Metab Dis | year= 1997 | volume= 20 | issue= 4 | pages= 607-8 | pmid=9266402 | doi=10.1023/a:1005375629820 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9266402 }} </ref> | |||
* [[Glucose-6-phosphate]] [[dehydrogenase]] [[deficiency]] <ref name="pmid28078493">{{cite journal| author=Stuhrman G, Perez Juanazo SJ, Crivelly K, Smith J, Andersson H, Morava E| title=False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. | journal=JIMD Rep | year= 2017 | volume= 36 | issue= | pages= 1-5 | pmid=28078493 | doi=10.1007/8904_2016_34 | pmc=5680284 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28078493 }} </ref> | |||
==References== | ==References== | ||
Revision as of 21:36, 27 May 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]
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Overview
Differentiating Galactosemia from other Diseases
Galactosemia needs to differentiated from other diseases like:
References
- ↑ Sakura N, Mizoguchi N, Ono H, Yamaoka H, Hamakawa M (2000). "Congenital biliary atresia detected as a result of galactosemia screening by the Beutler method". Clin Chim Acta. 298 (1–2): 175–9. doi:10.1016/s0009-8981(00)00220-5. PMID 10876013.
- ↑ Müller D, Santer R, Krawinkel M, Christiansen B, Schaub J (1997). "Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia". J Inherit Metab Dis. 20 (4): 607–8. doi:10.1023/a:1005375629820. PMID 9266402.
- ↑ Stuhrman G, Perez Juanazo SJ, Crivelly K, Smith J, Andersson H, Morava E (2017). "False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency". JIMD Rep. 36: 1–5. doi:10.1007/8904_2016_34. PMC 5680284. PMID 28078493.