Research & Literature

Hereditary folate malabsorption with extensive intracranial calcification.

Ahmad I, Mukhtar G, Iqbal J, Ali SW

Indian pediatrics 2015; (52(1)):67-8 doi:10.1007/s13312-015-0571-8.

CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency.

Torres A, Newton SA, Crompton B, et al.

JIMD reports 2015; (24()):91-6 doi:10.1007/8904_2015_445.

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings.

Ferreira P, Luco SM, Sawyer SL, et al.

Neurology. Genetics 2016; (2(1)):e38 doi:10.1212/NXG.0000000000000038.

Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolism.

Akiyama M, Akiyama T, Kanamaru K, et al.

Clinica chimica acta; international journal of clinical chemistry 2016; (460()):120-5.

Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency.

Hannibal L, Lysne V, Bjørke-Monsen AL, et al.

Frontiers in molecular biosciences 2016; (3()):27 doi:10.3389/fmolb.2016.00027.

The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.

Zhao R, Aluri S, Goldman ID

Molecular aspects of medicine 2017; (53()):57-72 doi:10.1016/j.mam.2016.09.002.

[Two cases with generalized intracranial calcification due to hereditary folate malabsorption and literature review].

Zhang Y, Wang Q, Li DX, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2016; (54(12)):931-935 doi:10.3760/cma.j.issn.0578-1310.2016.12.012.

Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.

Manea E, Gissen P, Pope S, et al.

JIMD reports 2018; (39()):7-12 doi:10.1007/8904_2017_39.

[Maternal and neonatal vitamin B12 deficiency detected by expanded newborn screening].

Papp F, Rácz G, Lénárt I, et al.

Orvosi hetilap 2017; (158(48)):1909-1918 doi:10.1556/650.2017.30901.

Hereditary folate malabsorption due to a mutation in the external gate of the proton-coupled folate transporter SLC46A1.

Aluri S, Zhao R, Lubout C, et al.

Blood advances 2018; (2(1)):61-68 doi:10.1182/bloodadvances.2017012690.

Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.

Tan J, Li X, Guo Y, et al.

Medicine 2017; (96(50)):e8712 doi:10.1097/MD.0000000000008712.

Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid.

Lubout CMA, Goorden SMI, van den Hurk K, et al.

Pediatric neurology 2020; (102()):62-66 doi:10.1016/j.pediatrneurol.2019.06.009.

A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).

Tozawa Y, Abdrabou SSMA, Nogawa-Chida N, et al.

Clinical immunology (Orlando, Fla.) 2019; (208()):108256 doi:10.1016/j.clim.2019.108256.

Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant.

Gowda VK, Battina M, Shivappa SK, Benakappa N

Indian journal of pediatrics 2021; (88(6)):586-588 doi:10.1007/s12098-020-03548-w.

The evolving biology of the proton-coupled folate transporter: New insights into regulation, structure, and mechanism.

Hou Z, Gangjee A, Matherly LH

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2022; (36(2)):e22164 doi:10.1096/fj.202101704R.

An infantile case of hereditary folate malabsorption with sudden development of pulmonary hemorrhage: a case report.

Sakurai Y, Toriumi N, Sarashina T, et al.

Journal of medical case reports 2022; (16(1)):268 doi:10.1186/s13256-022-03448-x.

Hereditary Folate Malabsorption presenting as neutropenic fever in a newborn from the first Palestinian family with the novel SLC46A1-mutation, A-case-report.

Sarhan FMA, Jobran AWM, Mansour IIA, et al.

Annals of medicine and surgery (2012) 2022; (80()):104253 doi:10.1016/j.amsu.2022.104253.

Hereditary Folate Malabsorption Presenting With Pancytopenia in Two Siblings: A Case Report.

N'joumi C, Ghanam A, Tkak H, et al.

Cureus 2025; (17(8)):e89809 doi:10.7759/cureus.89809.

A Rare Combination of Hereditary Folate Malabsorption (SLC46A1 Gene Variant) and Beta-Thalassemia Trait.

Shekhawat DS, Didel S, Purohit A, Singh K

EJIFCC 2025; (36(4)):581-586.

[Hereditary folate malabsorption due to an SLC46A1 mutation with cerebral folate deficiency and refractory epilepsy: first case reported in Argentina]

Grosso CL, Peralta LV, Paviolo M, et al.

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina) 2026; (83(3)):e50324 doi:10.31053/1853.0605.v83.n3.50324.