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Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M. Bedin M, et al. J Clin Invest. 2020 Jan 2;130(1):335-344. doi: 10.1172/JCI129937. J Clin Invest. 2020. PMID: 31613795 Free PMC article. Clinical Trial.
However, it is not clear whether all forms of proteinuria are damaging. Mutations in CUBN cause Imerslund-Grasbeck syndrome (IGS), which is characterized by intestinal malabsorption of vitamin B12 and in some cases proteinuria. ...
However, it is not clear whether all forms of proteinuria are damaging. Mutations in CUBN cause Imerslund-Grasbeck syndrome …
Imerslund-Grasbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).
Gräsbeck R. Gräsbeck R. Orphanet J Rare Dis. 2006 May 19;1:17. doi: 10.1186/1750-1172-1-17. Orphanet J Rare Dis. 2006. PMID: 16722557 Free PMC article. Review.
Imerslund-Grasbeck syndrome (IGS) or selective vitamin B(12) (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B(12) deficiency commonly resulting in megaloblastic anemia, which is responsive to parente …
Imerslund-Grasbeck syndrome (IGS) or selective vitamin B(12) (cobalamin) malabsorption with proteinuria is a rare autos …
Clinical and molecular characteristics of imerslund-grasbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene.
Elshinawy M, Gao HH, Al-Nabhani DM, Al-Thihli KA. Elshinawy M, et al. Int J Lab Hematol. 2021 Oct;43(5):1009-1015. doi: 10.1111/ijlh.13473. Epub 2021 Jan 25. Int J Lab Hematol. 2021. PMID: 33491342
INTRODUCTION: Imerslund-Grasbeck syndrome (IGS) is a rare autosomal-recessive disorder characterized by selective vitamin B12 malabsorption, megaloblastic anemia, and proteinuria. ...CONCLUSION: In communities with high incidence of consanguinity, cases of ea …
INTRODUCTION: Imerslund-Grasbeck syndrome (IGS) is a rare autosomal-recessive disorder characterized by selective vitam …
Imerslund-Grasbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN.
De Filippo G, Rendina D, Rocco V, Esposito T, Gianfrancesco F, Strazzullo P. De Filippo G, et al. Ital J Pediatr. 2013 Sep 17;39:58. doi: 10.1186/1824-7288-39-58. Ital J Pediatr. 2013. PMID: 24044590 Free PMC article. Review.
Imerslund-Grasbeck syndrome is a rare autosomal recessive disorder, characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin and usually results in megaloblastic anemia appearing in childhood. ...
Imerslund-Grasbeck syndrome is a rare autosomal recessive disorder, characterized by vitamin B12 deficiency due to sele …
Familial selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome) in a pool of Turkish patients.
Altay C, Cetin M, Gümrük F, Irken G, Yetgin S, Laleli Y. Altay C, et al. Pediatr Hematol Oncol. 1995 Jan-Feb;12(1):19-28. doi: 10.3109/08880019509029524. Pediatr Hematol Oncol. 1995. PMID: 7703038
Thirty-six patients with Imerslund-Grasbeck syndrome are presented. The mean ages at presentation and diagnosis were 4.7 +/- 3.7 years and 7.2 +/- 4.2 years, respectively. ...Serum haptoglobin values were close to zero in all patients, indicating the presence …
Thirty-six patients with Imerslund-Grasbeck syndrome are presented. The mean ages at presentation and diagnosis were 4. …
A child with Imerslund-Grasbeck syndrome concealed by co-existing alpha-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report.
Arunath V, Hoole TJ, Rathnasri A, Muthukumarana O, Kumarasiri IM, Liyanage ND, Costa Y, Mettananda S. Arunath V, et al. BMC Pediatr. 2021 Jan 18;21(1):41. doi: 10.1186/s12887-021-02499-1. BMC Pediatr. 2021. PMID: 33461510 Free PMC article.
BACKGROUND: Imerslund-Grasbeck syndrome is a rare genetic disease characterised by vitamin B(12) deficiency and proteinuria. ...Urine analysis showed non-nephrotic range proteinuria. The diagnosis of Imerslund-Grasbeck syndrome was made d …
BACKGROUND: Imerslund-Grasbeck syndrome is a rare genetic disease characterised by vitamin B(12) deficiency and protein …
Imerslund-Grasbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report.
Pacitto A, Prontera P, Stangoni G, Stefanelli M, Ceppi S, Cerri C, Gurdo G, Mencarelli A, Esposito S. Pacitto A, et al. Int J Mol Sci. 2019 Jan 27;20(3):527. doi: 10.3390/ijms20030527. Int J Mol Sci. 2019. PMID: 30691194 Free PMC article.
Imerslund-Grasbeck syndrome (IGS) is a rare autosomal recessive disorder clinically characterized by megaloblastic anemia, benign mild proteinuria, and other nonspecific symptoms. ...
Imerslund-Grasbeck syndrome (IGS) is a rare autosomal recessive disorder clinically characterized by megaloblastic anem …
Detailed investigations of proximal tubular function in Imerslund-Grasbeck syndrome.
Storm T, Zeitz C, Cases O, Amsellem S, Verroust PJ, Madsen M, Benoist JF, Passemard S, Lebon S, Jønsson IM, Emma F, Koldsø H, Hertz JM, Nielsen R, Christensen EI, Kozyraki R. Storm T, et al. BMC Med Genet. 2013 Oct 24;14:111. doi: 10.1186/1471-2350-14-111. BMC Med Genet. 2013. PMID: 24156255 Free PMC article.
BACKGROUND: Imerslund-Grasbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. ...
BACKGROUND: Imerslund-Grasbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemi …
VIT. B12 DEFICIENCY IN CHILDREN (IMERSLUND-GRASBECK SYNDROME IN TWO PAIRS OF SIBLINGS).
Krzemień G, Turczyn A, Szmigielska A, Roszkowska-Blaim M. Krzemień G, et al. Dev Period Med. 2015 Jul-Sep;19(3 Pt 2):351-5. Dev Period Med. 2015. PMID: 26958680
Improvement in the quality of life in Europe and North America in last decades caused that economical and social aspects of living conditions of the population have less effect and genetic defects of malabsorption of vitamin B12 became the main reason for cobalamin deficiency in …
Improvement in the quality of life in Europe and North America in last decades caused that economical and social aspects of living condition …
Acquired and inherited disorders of cobalamin and folate in children.
Whitehead VM. Whitehead VM. Br J Haematol. 2006 Jul;134(2):125-36. doi: 10.1111/j.1365-2141.2006.06133.x. Br J Haematol. 2006. PMID: 16846473 Free article. Review.
Inborn errors of cobalamin metabolism affect its absorption, (intrinsic factor deficiency, Imerslund-Grasbeck syndrome) and transport (transcobalamin deficiency) as well as its intracellular metabolism affecting adenosylcobalamin synthesis (cblA and cblB), me …
Inborn errors of cobalamin metabolism affect its absorption, (intrinsic factor deficiency, Imerslund-Grasbeck syndrome) …
26 results