Research & Literature

Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein.

Liu G, Wang Y, Anderson GJ, et al.

Journal of cellular biochemistry 2016; (117(1)):207-17 doi:10.1002/jcb.25267.

Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.

Cazzola M, Malcovati L

Hematology. American Society of Hematology. Education Program 2015; (2015()):19-25 doi:10.1182/asheducation-2015.1.19.

Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.

Fernández-Murray JP, Prykhozhij SV, Dufay JN, et al.

PLoS genetics 2016; (12(1)):e1005783 doi:10.1371/journal.pgen.1005783.

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases.

Krabbenborg L, Vissers LE, Schieving J, et al.

Journal of genetic counseling 2016; (25(6)):1207-1214 doi:10.1007/s10897-016-9958-5.

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Zurynski Y, Deverell M, Dalkeith T, et al.

Orphanet journal of rare diseases 2017; (12(1)):68 doi:10.1186/s13023-017-0622-4.

Splicing factor mutations in MDS RARS and MDS/MPN-RS-T.

Yoshimi A, Abdel-Wahab O

International journal of hematology 2017; (105(6)):720-731 doi:10.1007/s12185-017-2242-0.

Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.

Le Rouzic MA, Fouquet C, Leblanc T, et al.

Blood cells, molecules & diseases 2017; (66()):11-18 doi:10.1016/j.bcmd.2017.07.003.

Investigation of glutathione-derived electrostatic and hydrogen-bonding interactions and their role in defining Grx5 [2Fe-2S] cluster optical spectra and transfer chemistry.

Sen S, Bonfio C, Mansy SS, Cowan JA

Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry 2018; (23(2)):241-252 doi:10.1007/s00775-017-1525-5.

Pearson syndrome.

Farruggia P, Di Marco F, Dufour C

Expert review of hematology 2018; (11(3)):239-246 doi:10.1080/17474086.2018.1426454.

Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.

Mehri M, Zarin M, Ardalani F, et al.

Blood cells, molecules & diseases 2018; (71()):39-44 doi:10.1016/j.bcmd.2018.02.002.

Role of the HSPA9/HSC20 chaperone pair in promoting directional human iron-sulfur cluster exchange involving monothiol glutaredoxin 5.

Olive JA, Cowan JA

Journal of inorganic biochemistry 2018; (184()):100-107 doi:10.1016/j.jinorgbio.2018.04.007.

[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6].

Kawakami T, Nakazawa H, Kawakami F, et al.

[Rinsho ketsueki] The Japanese journal of clinical hematology 2018; (59(4)):401-406 doi:10.11406/rinketsu.59.401.

Pathophysiology and classification of iron overload diseases; update 2018.

Brissot P, Troadec MB, Loréal O, Brissot E

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine 2019; (26(1)):80-88 doi:10.1016/j.tracli.2018.08.006.

How to use the videofluoroscopy swallow study in paediatric practice.

Batchelor G, McNaughten B, Bourke T, et al.

Archives of disease in childhood. Education and practice edition 2019; (104(6)):313-320 doi:10.1136/archdischild-2017-313787.

GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.

Daher R, Mansouri A, Martelli A, et al.

Molecular genetics and metabolism 2019; (128(3)):342-351 doi:10.1016/j.ymgme.2018.12.012.

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.

Peoc'h K, Nicolas G, Schmitt C, et al.

Molecular genetics and metabolism 2019; (128(3)):190-197 doi:10.1016/j.ymgme.2019.01.015.

Graft failure after reduced-intensity stem cell transplantation for congenital sideroblastic anemia.

Imataki O, Uchida S, Uemura M, Kadowaki N

Pediatric hematology and oncology 2019; (36(1)):46-51 doi:10.1080/08880018.2019.1578844.

Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.

Fouquet C, Le Rouzic MA, Leblanc T, et al.

British journal of haematology 2019; (187(4)):530-542 doi:10.1111/bjh.16100.

Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.

Ravindra N, Athiyarath R, S E, et al.

Journal of clinical pathology 2021; (74(3)):157-162 doi:10.1136/jclinpath-2020-206647.

Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38.

Uminski K, Houston DS, Hartley JN, et al.

Pediatric blood & cancer 2020; (67(10)):e28623 doi:10.1002/pbc.28623.

Zinc-induced copper deficiency, sideroblastic anemia, and neutropenia: A perplexing facet of zinc excess.

Wahab A, Mushtaq K, Borak SG, Bellam N

Clinical case reports 2020; (8(9)):1666-1671 doi:10.1002/ccr3.2987.

Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options.

Abu-Zeinah G, DeSancho MT

Journal of blood medicine 2020; (11()):305-318 doi:10.2147/JBM.S232644.

A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels.

Lira Zidanes A, Marchi G, Busti F, et al.

Frontiers in physiology 2020; (11()):581386 doi:10.3389/fphys.2020.581386.

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Feng WX, Zhuo XW, Liu ZM, et al.

Frontiers in genetics 2021; (12()):605778 doi:10.3389/fgene.2021.605778.

Being the Pillar for Children with Rare Diseases-A Systematic Review on Parental Quality of Life.

Boettcher J, Boettcher M, Wiegand-Grefe S, Zapf H

International journal of environmental research and public health 2021; (18(9)) doi:10.3390/ijerph18094993.

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.

Sankaran BP, Gupta S, Tchan M, et al.

Orphanet journal of rare diseases 2021; (16(1)):465 doi:10.1186/s13023-021-02073-z.

Primary mitochondrial myopathies in childhood.

Olimpio C, Tiet MY, Horvath R

Neuromuscular disorders : NMD 2021; (31(10)):978-987 doi:10.1016/j.nmd.2021.08.005.

Stress, coping, and positive aspects of caregiving among caregivers of children with rare disease.

Manalel JA, Sumrall S, Davidson H, et al.

Psychology & health 2024; (39(2)):216-232 doi:10.1080/08870446.2022.2057494.

When Ring Sideroblasts on Bone Marrow Smears Are Inconsistent with the Diagnosis of Myelodysplastic Neoplasms.

Girard S, Genevieve F, Rault E, et al.

Diagnostics (Basel, Switzerland) 2022; (12(7)) doi:10.3390/diagnostics12071752.

Mitochondrial Genome Variants as a Cause of Mitochondrial Cardiomyopathy.

Campbell T, Slone J, Huang T

Cells 2022; (11(18)) doi:10.3390/cells11182835.

Causes and Pathophysiology of Acquired Sideroblastic Anemia.

Rodriguez-Sevilla JJ, Calvo X, Arenillas L

Genes 2022; (13(9)) doi:10.3390/genes13091562.

Prevalence of depression and anxiety, and their relationship to social support among patients and family caregivers of rare bone diseases.

Lai X, Jiang Y, Sun Y, et al.

Orphanet journal of rare diseases 2023; (18(1)):18 doi:10.1186/s13023-022-02611-3.

IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report.

Gong Y, Lan XP, Guo S

Frontiers in pediatrics 2022; (10()):1080664 doi:10.3389/fped.2022.1080664.

Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases.

Domaradzki J, Walkowiak D

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):78-84 doi:10.1016/j.ejpn.2023.12.003.

Teaching NeuroImage: Glutaredoxin-5-Associated Variant Nonketotic Hyperglycinemia.

Roy Chowdhury S, Mittal R, Yadav R, Guglany V

Neurology 2024; (102(3)):e208105 doi:10.1212/WNL.0000000000208105.

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.

Berti B, Verrigni D, Nasca A, et al.

International journal of molecular sciences 2024; (25(14)) doi:10.3390/ijms25147782.

Leigh Syndrome due to MT-ATP6 Variants: A Case Presentation and the Review of the Literature.

Akar HT, Sayar E, Sarıtaş Nakip Ö, et al.

Molecular syndromology 2024; (15(4)):333-338 doi:10.1159/000536676.

A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia.

Cai J, Liu T, Huang Y, et al.

Frontiers in pediatrics 2024; (12()):1411676 doi:10.3389/fped.2024.1411676.

A "rotating menu" of medical uncertainty for families affected by telomere biology disorders: A qualitative interview study.

Pearce E, Majid A, Brown T, et al.

SSM. Qualitative research in health 2024; (6()) doi:10.1016/j.ssmqr.2024.100486.

Infant With a Severe Form of GLRX5-Related Atypical Hyperglycinemia Exhibiting Novel Cardiac and Neurologic Disease Manifestations at Autopsy.

Ferreira EO, Del Bigio MR, Morin J, Frosk P

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2025; (28(5)):390-394 doi:10.1177/10935266251335065.

Assessing Psychological Harms on Parents and Primary Caregivers of Children Living with a Rare Disease: A Systematic Review of the Scope and Validity of Surveys Utilized.

Bull LJ, Eslick GD, Teutsch SM, Elliott EJ

Clinical child and family psychology review 2025; (28(3)):612-630 doi:10.1007/s10567-025-00533-7.

[The 511th case: severe anemia with increased ringed sideroblasts].

Liu ZW, Chen M, Han B

Zhonghua nei ke za zhi 2025; (64(9)):906-910 doi:10.3760/cma.j.cn112138-20250616-00348.

[Silent α-Thalassemia Complicated with the Alcohol-Induced Secondary Ring Sideroblastic Anemia].

Jiang Y, Chen Y, Yang L, Li WB

Zhongguo shi yan xue ye xue za zhi 2025; (33(4)):1094-1097 doi:10.19746/j.cnki.issn.1009-2137.2025.04.024.

Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction.

Ganesh J, Donnelly C, Ligezka A, et al.

Molecular genetics and metabolism 2025; (146(3)):109236 doi:10.1016/j.ymgme.2025.109236.

TTC19-related mitochondrial disease: A characteristic neuroimaging signature?

Bérat CM, Barcia G, Gaignard P, et al.

Molecular genetics and metabolism 2026; (149(1-2)):110220 doi:10.1016/j.ymgme.2026.110220.

Comparison of parental caregivers and associated factors with caregiver burden in rare paediatric diseases.

Brandt M, Inhestern L, Zybarth D, et al.

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

Clinical and biochemical footprints of inherited disorders of heme synthesis and porphyrias: Insights from the IEMbase and dyadic nomenclature.

Barman-Aksözen J, Ferreira CR, Blau N

Molecular genetics and metabolism 2026; (149(4)):110292 doi:10.1016/j.ymgme.2026.110292.