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Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Orphanet J Rare Dis. 2012 Aug 28;7:56. doi: 10.1186/1750-1172-7-56.
Orphanet J Rare Dis. 2012.
PMID: 22929189
Free PMC article.
Hereditary intrinsic factor deficiency in chaldeans.
Sturm AC, Baack EC, Armstrong MB, Schiff D, Zia A, Savasan S, de la Chapelle A, Tanner SM.
Sturm AC, et al. Among authors: baack ec.
JIMD Rep. 2013;7:13-8. doi: 10.1007/8904_2012_133. Epub 2012 Mar 18.
JIMD Rep. 2013.
PMID: 23430489
Free PMC article.
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Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred.
Efebera YA, Sturm A, Baack EC, Hofmeister CC, Satoskar A, Nadasdy T, Nadasdy G, Benson DM, Gillmore JD, Hawkins PN, Rowczenio D.
Efebera YA, et al. Among authors: baack ec.
Amyloid. 2014 Jun;21(2):110-2. doi: 10.3109/13506129.2014.891502. Epub 2014 Mar 6.
Amyloid. 2014.
PMID: 24601799
Free PMC article.
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