PMC Links for OMIM (Select 261100) - PMC

Select item 67181171.

Profound vitamin D deficiency in four siblings with Imerslund‐Grasbeck syndrome with homozygous CUBN mutation

Jose I. R. Ciancio, Mark Furman, Siddharth Banka, Stephanie Grunewald

JIMD Rep. 2019 Sep; 49(1): 43–47. Published online 2019 Jul 26. doi: 10.1002/jmd2.12072

PMCID:: PMC6718117

Select item 38265502.

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

Tina Storm, Christina Zeitz, Olivier Cases, Sabine Amsellem, Pierre J Verroust, Mette Madsen, Jean-François Benoist, Sandrine Passemard, Sophie Lebon, Iben Møller Jønsson, Francesco Emma, Heidi Koldsø, Jens Michael Hertz, Rikke Nielsen, Erik I Christensen, Renata Kozyraki

BMC Med Genet. 2013; 14: 111. Published online 2013 Oct 24. doi: 10.1186/1471-2350-14-111

PMCID:: PMC3826550

Abstract Article PDF–1.8M

Select item 18015013.

Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.

M Aminoff, E Tahvanainen, R Gräsbeck, J Weissenbach, H Broch, A de la Chapelle

Am J Hum Genet. 1995 Oct; 57(4): 824–831.

PMCID:: PMC1801501

Summary Page Browse PDF–1.1M

Select item 15131944.

Imerslund-Gräsbeck syndrome (selective vitamin B₁₂malabsorption with proteinuria)

Ralph Gräsbeck

Orphanet J Rare Dis. 2006; 1: 17. Published online 2006 May 19. doi: 10.1186/1750-1172-1-17

PMCID:: PMC1513194

Abstract Article PDF–260K

Select item 14326345.

Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck syndrome (familial vitamin B12 malabsorption with proteinuria).

J F Burman, W J Jenkins, J A Walker-Smith, A D Phillips, N A Sourial, C B Williams, D L Mollin

Gut. 1985 Mar; 26(3): 311–314. doi: 10.1136/gut.26.3.311

PMCID:: PMC1432634

Summary Page Browse PDF–455K

Select item 5548216.

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

Stephan M. Tanner, Zhongyuan Li, James D. Perko, Cihan Öner, Mualla Çetin, Çiğdem Altay, Zekiye Yurtsever, Karen L. David, Laurence Faivre, Essam A. Ismail, Ralph Gräsbeck, Albert de la Chapelle

Proc Natl Acad Sci U S A. 2005 Mar 15; 102(11): 4130–4133. Published online 2005 Feb 28. doi: 10.1073/pnas.0500517102

PMCID:: PMC554821

Abstract Article PDF–189K

Select item 5021847.

Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12.

S H Lin, N A Sourial, K C Lu, E J Hsueh

J Clin Pathol. 1994 Oct; 47(10): 956–958. doi: 10.1136/jcp.47.10.956

PMCID:: PMC502184

Summary Page Browse PDF–916K

Select item 611388.

Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D₃

Anders Nykjaer, John C. Fyfe, Renata Kozyraki, Jörg-Robert Leheste, Christian Jacobsen, Morten S. Nielsen, Pierre J. Verroust, Maria Aminoff, Albert de la Chapelle, Søren K. Moestrup, Rahul Ray, Jørgen Gliemann, Thomas E. Willnow, Erik I. Christensen

Proc Natl Acad Sci U S A. 2001 Nov 20; 98(24): 13895–13900. doi: 10.1073/pnas.241516998

PMCID:: PMC61138

Abstract Article PDF–449K

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