Research & Literature

Heme Oxygenase-1 Gene Therapy Provides Cardioprotection Via Control of Post-Ischemic Inflammation: An Experimental Study in a Pre-Clinical Pig Model.

Hinkel R, Lange P, Petersen B, et al.

Journal of the American College of Cardiology 2015; (66(2)):154-65.

[Impaired immunity: risk groups and consequences for general practice].

Opstelten W, Bijlsma JW, Gelinck LB, et al.

Nederlands tijdschrift voor geneeskunde 2016; (160()):A9752.

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.

Opladen T, Cortès-Saladelafont E, Mastrangelo M, et al.

Molecular genetics and metabolism reports 2016; (9()):61-66 doi:10.1016/j.ymgmr.2016.09.006.

Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review.

Iijima S

BMC infectious diseases 2017; (17(1)):777 doi:10.1186/s12879-017-2896-5.

The macrophage heme-heme oxygenase-1 system and its role in inflammation.

Vijayan V, Wagener FADTG, Immenschuh S

Biochemical pharmacology 2018; (153()):159-167 doi:10.1016/j.bcp.2018.02.010.

Infused wild-type macrophages reside and self-renew in the liver to rescue the hemolysis and anemia of Hmox1-deficient mice.

Kim KS, Zhang DL, Kovtunovych G, et al.

Blood advances 2018; (2(20)):2732-2743 doi:10.1182/bloodadvances.2018019737.

Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders.

Mulberg AE, Bucci-Rechtweg C, Giuliano J, et al.

Orphanet journal of rare diseases 2019; (14(1)):36 doi:10.1186/s13023-019-1017-5.

Heme oxygenase-1 deficiency triggers exhaustion of hematopoietic stem cells.

Szade K, Zukowska M, Szade A, et al.

EMBO reports 2020; (21(2)):e47895 doi:10.15252/embr.201947895.

Post-mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child.

Tahghighi F, Parvaneh N, Ziaee V

International journal of molecular and cellular medicine 2019; (8(4)):300-307 doi:10.22088/IJMCM.BUMS.8.4.300.

The development of a quality improvement project to improve infection prevention and management in patients with asplenia or hyposplenia.

O'Neill NE, Baker J, Ward R, et al.

BMJ open quality 2020; (9(3)) doi:10.1136/bmjoq-2019-000770.

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares.

Chau AS, Cole BL, Debley JS, et al.

Pediatric rheumatology online journal 2020; (18(1)):80 doi:10.1186/s12969-020-00474-1.

Preventing infections in children and adults with asplenia.

Lee GM

Hematology. American Society of Hematology. Education Program 2020; (2020(1)):328-335 doi:10.1182/hematology.2020000117.

Heme Oxygenase-1 Deficiency and Oxidative Stress: A Review of 9 Independent Human Cases and Animal Models.

Yachie A

International journal of molecular sciences 2021; (22(4)) doi:10.3390/ijms22041514.

U-IMD: the first Unified European registry for inherited metabolic diseases.

Opladen T, Gleich F, Kozich V, et al.

Orphanet journal of rare diseases 2021; (16(1)):95 doi:10.1186/s13023-021-01726-3.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

Zurek B, Ellwanger K, Vissers LELM, et al.

European journal of human genetics : EJHG 2021; (29(9)):1325-1331 doi:10.1038/s41431-021-00859-0.

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience.

Kölker S, Gleich F, Mütze U, Opladen T

Frontiers in endocrinology 2022; (13()):832063 doi:10.3389/fendo.2022.832063.

Heme Oxygenase-1: An Anti-Inflammatory Effector in Cardiovascular, Lung, and Related Metabolic Disorders.

Ryter SW

Antioxidants (Basel, Switzerland) 2022; (11(3)) doi:10.3390/antiox11030555.

The Interdisciplinary Diagnosis of Rare Diseases.

Rillig F, Grüters A, Schramm C, Krude H

Deutsches Arzteblatt international 2022; (119(27-28)):469-475.

Heme oxygenase-1 deficiency as an extremely rare cause of AA-type renal amyloidosis: Expanding the clinical features and review of the literature.

Dirim AB, Kalayci T, Safak S, et al.

Clinical rheumatology 2023; (42(2)):597-606 doi:10.1007/s10067-022-06465-9.

Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype.

Berendes LS, Westhoff PS, Wittkowski H, et al.

Molecular genetics and metabolism reports 2024; (38()):101038 doi:10.1016/j.ymgmr.2023.101038.

Updated Recommendations on the Prevention and Treatment of Infections in Children With Asplenia/Hyposplenism.

Guri A, Ben-Ami T

Journal of pediatric hematology/oncology 2024; (46(5)):225-232 doi:10.1097/MPH.0000000000002855.

A rare case of heme oxygenase deficiency: A case report and literature review.

Alla SSM, Agarwal P, Shah DJ, et al.

Clinical case reports 2024; (12(6)):e8986 doi:10.1002/ccr3.8986.

A national biobank framework for rare diseases: Standardized infrastructure and cross-institutional collaboration accelerating translational innovation in China.

Liu W, Jin Y, Zhang Y, et al.

HGG advances 2026; (7(1)):100544 doi:10.1016/j.xhgg.2025.100544.

Malaria-associated splenic haemorrhage requiring emergency splenectomy: a rare complication managed in a resource-constrained setting.

Kumar A, Agatrao BA, Prakash A, et al.

Malaria journal 2026; (25(1)).

Variability in the Management of Antibiotic Prophylaxis for Patients with Asplenia.

Weakley KE, Dryer MM, Foley DS, et al.

The Journal of pediatrics 2026; (294()):115091 doi:10.1016/j.jpeds.2026.115091.