Research & Literature

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.

Montgomery E, Sayer JA, Baines LA, et al.

BMC medical genetics 2015; (16()):35 doi:10.1186/s12881-015-0181-2.

VIT. B12 DEFICIENCY IN CHILDREN (IMERSLUND-GRÄSBECK SYNDROME IN TWO PAIRS OF SIBLINGS).

Krzemień G, Turczyn A, Szmigielska A, Roszkowska-Blaim M

Developmental period medicine 2015; (19(3 Pt 2)):351-5.

Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.

Udagawa T, Harita Y, Miura K, et al.

Scientific reports 2018; (8(1)):2351 doi:10.1038/s41598-018-20731-4.

Structural assembly of the megadalton-sized receptor for intestinal vitamin B12 uptake and kidney protein reabsorption.

Larsen C, Etzerodt A, Madsen M, et al.

Nature communications 2018; (9(1)):5204 doi:10.1038/s41467-018-07468-4.

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report.

Pacitto A, Prontera P, Stangoni G, et al.

International journal of molecular sciences 2019; (20(3)) doi:10.3390/ijms20030527.

[IMERSLUND-GRÄSBECK SYNDROME CONGENITAL FORM OF VITAMIN B12 DEFICIENCY ANEMIA].

Kvezereli-Kopadze M, Mtvarelidze Z

Georgian medical news 2019; 45-48.

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

Ciancio JIR, Furman M, Banka S, Grunewald S

JIMD reports 2019; (49(1)):43-47 doi:10.1002/jmd2.12072.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Bedin M, Boyer O, Servais A, et al.

The Journal of clinical investigation 2020; (130(1)):335-344.

Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child.

Gurlek Gokcebay D, Akpinar Tekgunduz S, Cavdarli B

European journal of medical genetics 2020; (63(6)):103880 doi:10.1016/j.ejmg.2020.103880.

A cellular model of albumin endocytosis uncovers a link between membrane and nuclear proteins.

Urae S, Harita Y, Udagawa T, et al.

Journal of cell science 2020; (133(13)) doi:10.1242/jcs.242859.

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.

Chen RY, Li XZ, Lin Q, et al.

BMC medical genetics 2020; (21(1)):183 doi:10.1186/s12881-020-01122-x.

A child with Imerslund-Gräsbeck syndrome concealed by co-existing α-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report.

Arunath V, Hoole TJ, Rathnasri A, et al.

BMC pediatrics 2021; (21(1)):41 doi:10.1186/s12887-021-02499-1.

Clinical and molecular characteristics of imerslund-gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene.

Elshinawy M, Gao HH, Al-Nabhani DM, Al-Thihli KA

International journal of laboratory hematology 2021; (43(5)):1009-1015 doi:10.1111/ijlh.13473.

A 17-Month-old Boy With Pancytopenia Caused by a Rare Genetic Defect of Vitamin B12 Malabsorption.

Baker KM, Parikh NS, Salsbery KT, et al.

Journal of pediatric hematology/oncology 2022; (44(2)):e444-e446 doi:10.1097/MPH.0000000000002213.

[Clinical analysis of two brothers with Imerslund-Gräsbeck syndrome].

Xi WW, Cao L, Huo HL, et al.

Zhonghua yi xue za zhi 2021; (101(40)):3351-3354 doi:10.3760/cma.j.cn112137-20210709-01537.

Acute cerebellar ataxia as the first manifestation of Imerslund-Gräsbeck syndrome.

Eslamiyeh H

Iranian journal of child neurology 2021; (15(4)):105-108 doi:10.22037/ijcn.v15i4.27482.

Health care transition from pediatric to adult care: an evidence-based guideline.

Pape L, Ernst G

European journal of pediatrics 2022; (181(5)):1951-1958 doi:10.1007/s00431-022-04385-z.

Pediatric to Adult Hydrocephalus: A Smooth Transition.

Hong MA, Sukumaran A, Riva-Cambrin J

Neurology India 2021; (69(Supplement)):S390-S394 doi:10.4103/0028-3886.332245.

Vitamin B12 absorption and malabsorption.

Guéant JL, Guéant-Rodriguez RM, Alpers DH

Vitamins and hormones 2022; (119()):241-274 doi:10.1016/bs.vh.2022.01.016.

Inherited defects of cobalamin metabolism.

Watkins D, Rosenblatt DS

Vitamins and hormones 2022; (119()):355-376 doi:10.1016/bs.vh.2022.01.010.

Albumin uptake and processing by the proximal tubule: physiological, pathological, and therapeutic implications.

Molitoris BA, Sandoval RM, Yadav SPS, Wagner MC

Physiological reviews 2022; (102(4)):1625-1667 doi:10.1152/physrev.00014.2021.

Metformin-induced vitamin B12 deficiency can cause or worsen distal symmetrical, autonomic and cardiac neuropathy in the patient with diabetes.

Bell DSH

Diabetes, obesity & metabolism 2022; (24(8)):1423-1428 doi:10.1111/dom.14734.

Novel pathogenic variants in CUBN uncouple proteinuria from renal function.

Gan C, Zhou X, Chen D, et al.

Journal of translational medicine 2022; (20(1)):480 doi:10.1186/s12967-022-03706-y.

Megalin, cubilin, and Dab2 drive endocytic flux in kidney proximal tubule cells.

Rbaibi Y, Long KR, Shipman KE, et al.

Molecular biology of the cell 2023; (34(7)):ar74 doi:10.1091/mbc.E22-11-0510.

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.

Kingma SDK, Neven J, Bael A, et al.

Orphanet journal of rare diseases 2023; (18(1)):291 doi:10.1186/s13023-023-02889-x.

Controversy between biopsy and risk in children with proteinuria: is there a paradigm war?

Yang J, Liu X

BMC nephrology 2024; (25(1)):221 doi:10.1186/s12882-024-03660-5.

Severe pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy.

Di Sario F, Piloni F, Gasparini F, et al.

Italian journal of pediatrics 2024; (50(1)):186 doi:10.1186/s13052-024-01759-x.

Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report.

Zhang D, Liu S, Xi B, et al.

Italian journal of pediatrics 2024; (50(1)):191 doi:10.1186/s13052-024-01757-z.

Childhood to adult transition in youth patients with lysosomal acid lipase deficiency: 43 recommendations from experts.

Hermida-Ameijeiras A, Blasco-Alonso J, Carrillo-Linares JL, et al.

Orphanet journal of rare diseases 2025; (20(1)):337 doi:10.1186/s13023-025-03852-8.

Modelling CubAm function and regulation in proximal tubular cells using iPSC-derived kidney organoids.

Llorens-Cebrià C, Bouwens D, Van Der Velde M, et al.

Experimental cell research 2025; (453(2)):114814 doi:10.1016/j.yexcr.2025.114814.

Imerslund-Gräsbeck syndrome presenting with a 12-year history of intermittent proteinuria and anemia: a case from the Middle East.

Makrooni R, Rahimi Darehbagh R, Karimi A, Moradveisi B

BMC pediatrics 2025; (25(1)):913 doi:10.1186/s12887-025-06284-2.

Benign proximal tubular albuminuria due to AMN mutation: A challenging presentation of Imerslund-Gräsbeck syndrome.

Pul S, Güven S, Çiçek N, et al.

Pediatric nephrology (Berlin, Germany) 2026; (41(4)):999-1001 doi:10.1007/s00467-025-07052-1.

Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants.

Sakakibara N, Ishiko S, Tanaka Y, et al.

Kidney international reports 2026; (11(3)):103754 doi:10.1016/j.ekir.2025.103754.

Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives.

Saini AG, Gunasekaran PK, Prasad AN

Frontiers in nutrition 2026; (13()):1808765 doi:10.3389/fnut.2026.1808765.

Comparison of Vitamin B12 Deficiency and Insufficiency in Children in Terms of Hemogram Parameters.

Koyuncu H, Oflu AT, Soyugüzel A, et al.

Turkish archives of pediatrics 2026; (61(7)):581-586 doi:10.65717/TurkArchPediatr.2026.25464.

Diagnosis and treatment of vitamin B12 deficiency in children.

Kanvinde P, Khurana R, Mudaliar S

Frontiers in nutrition 2026; (13()):1883501 doi:10.3389/fnut.2026.1883501.

Revisiting the hematological manifestations of vitamin B12 deficiency.

Parakh N, Dewan P

Frontiers in nutrition 2026; (13()):1898533 doi:10.3389/fnut.2026.1898533.

Case Report: Imerslund Grasbeck syndrome: a rare cause of megaloblastic anemia in a well-nourished child.

Khurana R, Kanvinde P, Mudaliar S

Frontiers in nutrition 2026; (13()):1883519 doi:10.3389/fnut.2026.1883519.

Diagnostic Overshadowing in Lennox-Gastaut Syndrome: Immerslund-Gräsbeck Syndrome Unmasked by Radiosurgical Stress.

Koç E, Taş EN, Arhan E, et al.

Journal of child neurology 2026; 8830738261474005 doi:10.1177/08830738261474005.