Research & Literature

Transcobalamin II Deficiency in Four Cases with Novel Mutations.

Ünal Ş, Rupar T, Yetgin S, et al.

Turkish journal of haematology : official journal of Turkish Society of Haematology 2015; (32(4)):317-22 doi:10.4274/tjh.2014.0154.

Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.

Al-Dirbashi OY, McIntosh N, Chakraborty P

Journal of medical screening 2017; (24(2)):58-61 doi:10.1177/0969141316645824.

The supportive care needs of parents with a child with a rare disease: results of an online survey.

Pelentsov LJ, Fielder AL, Laws TA, Esterman AJ

BMC family practice 2016; (17()):88 doi:10.1186/s12875-016-0488-x.

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Siddiq S, Wilson BJ, Graham ID, et al.

Orphanet journal of rare diseases 2016; (11(1)):168 doi:10.1186/s13023-016-0548-2.

Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey

Ünal S, Karahan F, Arıkoğlu T, et al.

Turkish journal of haematology : official journal of Turkish Society of Haematology 2019; (36(1)):37-42 doi:10.4274/tjh.galenos.2018.2018.0230.

Neurological disorders in vitamin B12 deficiency.

Pavlov CS, Damulin IV, Shulpekova YO, Andreev EA

Terapevticheskii arkhiv 2019; (91(4)):122-129 doi:10.26442/00403660.2019.04.000116.

Genetic polymorphisms of the cobalamin transport system are associated with idiopathic recurrent implantation failure.

Park HS, Kim JO, An HJ, et al.

Journal of assisted reproduction and genetics 2019; (36(7)):1513-1522 doi:10.1007/s10815-019-01455-4.

Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.

Kose E, Besci O, Gudeloglu E, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(11)):1487-1499.

Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.

Zhan S, Cheng F, He H, et al.

BMC pediatrics 2020; (20(1)):460 doi:10.1186/s12887-020-02357-6.

Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

Chow AJ, Pugliese M, Tessier LA, et al.

The patient 2022; (15(2)):171-185 doi:10.1007/s40271-021-00538-8.

A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency.

Pongphitcha P, Sirachainan N, Khongkraparn A, et al.

BMC pediatrics 2022; (22(1)):233 doi:10.1186/s12887-022-03291-5.

Diagnostic and Therapeutic Perspectives Associated to Cobalamin-Dependent Metabolism and Transcobalamins' Synthesis in Solid Cancers.

Lacombe V, Lenaers G, Urbanski G

Nutrients 2022; (14(10)) doi:10.3390/nu14102058.

"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".

Oshi MAM, Alfaifi J, Alqahtani YAM, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2282 doi:10.1002/mgg3.2282.

New data supporting that early diagnosis and treatment are possible and necessary in intracellular cobalamin depletion: the case of transcobalamin II deficiency.

Verónica B, Crespo C, Lochner N, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2024; (37(4)):380-386 doi:10.1515/jpem-2023-0577.

From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia.

Sassine S, Remy A, Demaret T, et al.

Children (Basel, Switzerland) 2024; (11(8)) doi:10.3390/children11080990.

Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes.

Sawlan AM, Alotaibi M, Alharbi RM, et al.

The application of clinical genetics 2025; (18()):73-80 doi:10.2147/TACG.S519631.

Unraveling the mystery: Exploring a case of prolonged fever and hidden genetics: Case report.

Jamil SF, Alhawsawi KI, Alrefaei SM

Journal of family medicine and primary care 2025; (14(5)):2065-2069 doi:10.4103/jfmpc.jfmpc_1839_24.

Transcobalamin II deficiency mimicking myelodysplastic syndrome in a child: a case report.

Hu X, Xu H, Xie L

Frontiers in pediatrics 2026; (14()):1757303 doi:10.3389/fped.2026.1757303.

The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.

Chow AJ, Jordan I, Pallone N, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Myelodysplasia uncovering transcobalamin deficiency.

Al Sulaimi K, Al Zaabi A, Wali Y, Al Murshedi FQ

BMJ case reports 2026; (19(8)) doi:10.1136/bcr-2025-271492.