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*In 1967, Guido Fanconi, a Swiss pediatrician, described Fanconi anemia (FA) findings as separate entity than pernicious anemia.<ref name="pmid15345865">{{cite journal| author=Akkari Y, Olson S| title=Fanconi Anemia: A Decade of Discoveries. | journal=J Assoc Genet Technol | year= 2004 | volume= 30 | issue= 2 | pages= 48-53 | pmid=15345865 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15345865 }}</ref> | *In 1967, Guido Fanconi, a Swiss pediatrician, described Fanconi anemia (FA) findings as separate entity than pernicious anemia.<ref name="pmid15345865">{{cite journal| author=Akkari Y, Olson S| title=Fanconi Anemia: A Decade of Discoveries. | journal=J Assoc Genet Technol | year= 2004 | volume= 30 | issue= 2 | pages= 48-53 | pmid=15345865 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15345865 }}</ref> | ||
*In 1931, Otto Naegeli, a Swiss hematologist introduced the name ‘Fanconi's Anaemia'<ref name="pmid18587688">{{cite journal| author=Scheidegger D| title=Otto Naegeli Prize awarded to Pierre-Alain Clavien. | journal=Swiss Med Wkly | year= 2008 | volume= 138 | issue= 25-26 | pages= 359-60 | pmid=18587688 | doi=2008/25/smw-12354 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18587688 }}</ref> | *In 1931, Otto Naegeli, a Swiss hematologist introduced the name ‘Fanconi's Anaemia'<ref name="pmid18587688">{{cite journal| author=Scheidegger D| title=Otto Naegeli Prize awarded to Pierre-Alain Clavien. | journal=Swiss Med Wkly | year= 2008 | volume= 138 | issue= 25-26 | pages= 359-60 | pmid=18587688 | doi=2008/25/smw-12354 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18587688 }}</ref> | ||
*In 1937, Guido Fanconi, described the renal fanconi syndrome based on observation of de Toni and Debre, characterized by growth retardation, aminoaciduria, glycosuria and hypophosphataemic rickets. <ref name="pmid26182478">{{cite journal| author=Fanconi A| title=Guido Fanconi, MD, 1892 - 1979 Swiss Pediatrician Life and Performance. | journal=Pediatr Endocrinol Rev | year= 2015 | volume= 12 | issue= 4 | pages= 343-6 | pmid=26182478 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26182478 }}</ref> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Historical Perspective
Discovery
- In 1927, Guido Fanconi, a Swiss pediatrician published his observations ‘Familiäre, infantile, perniziosaartige Anämie’{Familial, infantile, pernicious anemia}.
- In 1931, Erwin Uehlinger, a German Pathologist, published article showing that findings of Guido Fanconi are different from pernicious anemia this type of constitutional anaemia was often associated with pancytopenia and that congenital malformations.[1]
- In 1967, Guido Fanconi, a Swiss pediatrician, described Fanconi anemia (FA) findings as separate entity than pernicious anemia.[2]
- In 1931, Otto Naegeli, a Swiss hematologist introduced the name ‘Fanconi's Anaemia'[3]
- In 1937, Guido Fanconi, described the renal fanconi syndrome based on observation of de Toni and Debre, characterized by growth retardation, aminoaciduria, glycosuria and hypophosphataemic rickets. [4]
References
- ↑ Adler CP (1981). "[In Memoriam: Erwin Uehlinger (8. August 1899 - 18. April 1980)]". Pathol Res Pract. 171 (3–4): 281–4. doi:10.1016/S0344-0338(81)80100-8. PMID 7024952.
- ↑ Akkari Y, Olson S (2004). "Fanconi Anemia: A Decade of Discoveries". J Assoc Genet Technol. 30 (2): 48–53. PMID 15345865.
- ↑ Scheidegger D (2008). "Otto Naegeli Prize awarded to Pierre-Alain Clavien". Swiss Med Wkly. 138 (25–26): 359–60. doi:2008/25/smw-12354 Check
|doi=value (help). PMID 18587688. - ↑ Fanconi A (2015). "Guido Fanconi, MD, 1892 - 1979 Swiss Pediatrician Life and Performance". Pediatr Endocrinol Rev. 12 (4): 343–6. PMID 26182478.