Research & Literature

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.

Family-centered care in children with epilepsy: Evaluating the Measure of Processes of Care (MPOC-20).

Joachim KC, Wilk P, Ryan BL, Speechley KN

Epilepsia 2016; (57(10)):1660-1668 doi:10.1111/epi.13494.

[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.

Neutropenia and Increased Mean Corpuscular Volume (MCV) With Abnormal Neurologic Findings: A Case of Cobalamin D Deficiency.

Soylu Ustkoyuncu P, Kendirci M, Kardas F, et al.

Journal of pediatric hematology/oncology 2019; (41(1)):e54-e56 doi:10.1097/MPH.0000000000001120.

Evolutionarily Related Dihydrofolate Reductases Perform Coequal Functions Yet Show Divergence in Their Trajectories.

Rashid N, Chaudhuri Chattopadhyay P

The protein journal 2018; (37(4)):301-310 doi:10.1007/s10930-018-9784-8.

Abnormal folate metabolism causes age-, sex- and parent-of-origin-specific haematological defects in mice.

Padmanabhan N, Menelaou K, Gao J, et al.

The Journal of physiology 2018; (596(18)):4341-4360 doi:10.1113/JP276419.

[Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review].

Lu H, Lu H, Vaucher J, et al.

La Revue de medecine interne 2019; (40(1)):20-27 doi:10.1016/j.revmed.2018.06.005.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Huemer M, Diodato D, Martinelli D, et al.

Journal of inherited metabolic disease 2019; (42(2)):333-352 doi:10.1002/jimd.12041.

Cerebral folate deficiency: Analytical tests and differential diagnosis.

Pope S, Artuch R, Heales S, Rahman S

Journal of inherited metabolic disease 2019; (42(4)):655-672 doi:10.1002/jimd.12092.

An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.

Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, et al.

The Turkish journal of pediatrics 2019; (61(2)):282-285.

Vitamin B12 deficiency as a cause of severe neurological symptoms in breast fed infant - a case report.

Dubaj C, Czyż K, Furmaga-Jabłońska W

Italian journal of pediatrics 2020; (46(1)):40 doi:10.1186/s13052-020-0804-x.

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression.

Cao X, Wolf A, Kim SE, et al.

Journal of medical genetics 2021; (58(7)):484-494 doi:10.1136/jmedgenet-2020-106987.

Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association.

Mahale RR, Gautam J, Arunachal G, et al.

Journal of pediatric neurosciences 2021; (16(2)):153-155 doi:10.4103/jpn.JPN_96_20.

Vitamin B12 Deficiency Resembling Acute Leukemia: A Case Report.

Sharma N, Kunwar S, Shrestha AK

JNMA; journal of the Nepal Medical Association 2021; (59(243)):1182-1184 doi:10.31729/jnma.6600.

Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.

Yverneau M, Leroux S, Imbard A, et al.

Journal of inherited metabolic disease 2022; (45(4)):848-861 doi:10.1002/jimd.12504.

Disease-linked mutations cause exposure of a protein quality control degron.

Kampmeyer C, Larsen-Ledet S, Wagnkilde MR, et al.

Structure (London, England : 1993) 2022; (30(9)):1245-1253.e5 doi:10.1016/j.str.2022.05.016.

Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism.

Bösch F, Landolt MA, Baumgartner MR, et al.

Molecular genetics and metabolism reports 2022; (31()):100876 doi:10.1016/j.ymgmr.2022.100876.

Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection.

Lipari Pinto P, Florindo C, Janeiro P, et al.

Nutrients 2022; (14(20)) doi:10.3390/nu14204397.

Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.

Schwartz IVD, Quesada AA, Ribeiro EM, et al.

Arquivos de neuro-psiquiatria 2023; (81(7)):685-695 doi:10.1055/s-0043-1768677.

Clinical, Biochemical and Molecular Features of a Cohort of 8 Patients with Inherited Disorders of Vitamin B12 Metabolism in a Metabolic Reference Center.

Padeira G, Jacinto S, Ribeirinho A, Ferreira AC

Endocrine, metabolic & immune disorders drug targets 2023; doi:10.2174/0118715303272253231004094018.

An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment.

Di Candia F, Di Iorio V, Tinto N, et al.

Italian journal of pediatrics 2023; (49(1)):158 doi:10.1186/s13052-023-01553-1.

Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?

Nguyen A, Deshayes S, Nowoczyn M, et al.

JIMD reports 2024; (65(3)):163-170 doi:10.1002/jmd2.12422.

Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan.

Ahmed S, Cai L, Akbar F, et al.

Scandinavian journal of clinical and laboratory investigation 2024; (84(6)):391-397 doi:10.1080/00365513.2024.2394983.

Clinical characteristics of megaloblastic anemia with pancytopenia.

Tang L, Miao J, Wang J

Hematology (Amsterdam, Netherlands) 2024; (29(1)):2420407 doi:10.1080/16078454.2024.2420407.

Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.

Klötzer C, Schnabel F, Kubasch AS, et al.

Acta haematologica 2025; (148(4)):380-385 doi:10.1159/000542286.

RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing events.

Li W, Ma X, Sun Y, et al.

Gene 2025; (936()):149101 doi:10.1016/j.gene.2024.149101.

DHFR2 RNA directly regulates dihydrofolate reductase and its expression level impacts folate one carbon metabolism.

Drago P, Bookey N, Leung KY, et al.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2025; (39(4)):e70391 doi:10.1096/fj.202401039RR.

Identification of novel disease-causing variants and their influence on clinical presentation in dihydrofolate reductase deficiency.

Wang D, Zhou D, Zhang Y, et al.

Neuroscience 2025; (583()):84-92 doi:10.1016/j.neuroscience.2025.07.045.

Establishing Quality Measures for the Prehospital Pediatric Readiness Project.

Ward CE, Adelgais K, Alter R, et al.

Prehospital emergency care 2026; 1-8 doi:10.1080/10903127.2026.2617921.

Clinical accuracy and applications of the Pediatric Assessment Triangle in emergency care: a narrative review.

Rath S, Alsabri M, Alhaddad J, et al.

International journal of emergency medicine 2026; (19(1)).

Severe Megaloblastic Anemia Secondary to Folate Deficiency in a 2-Year-Old Boy with Prolonged Predominant Goat Milk Feeding: A Case Report from a Low-Resource Setting.

Farah SA, Hassan Orey FA, Elmi AH, Mohamed NA

International medical case reports journal 2026; (19()):607862 doi:10.2147/IMCRJ.S607862.

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

Olivieri G, Bordugo A, Burnyte B, et al.

Journal of inherited metabolic disease 2026; (49(4)):e70177 doi:10.1002/jimd.70177.