ReviewTransfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie2022
XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease.
Review in Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- Brain Sphingolipid and Phospholipid Levels Are Altered in XK Disease.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- The Diverse Neuromuscular Spectrum of VPS13A Disease.Annals of clinical and translational neurology · 2026Article
- Neuropathological Characterisation of McLeod Syndrome With a Proposed New Grading System.Neuropathology and applied neurobiology · 2025Article
- Molecular mechanism of nano-vitamin A-mediated regulation of intramuscular fat deposition involving noncoding RNAs in pigs.BMC genomics · 2025Article
- Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients.Frontiers in physiology · 2025Article
- Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.Molecular genetics & genomic medicine · 2024Article
- Osmotic gradient ektacytometry - a novel diagnostic approach for neuroacanthocytosis syndromes.Frontiers in neuroscience · 2024Article
- Case report: Clinical, genetic and immunological characterization of a novelFrontiers in genetics · 2024Article
- Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers.Journal of clinical immunology · 2023Article
- Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).Molecular genetics and genomics : MGG · 2023Article
- Xp21 DNA microdeletion syndrome in a Chinese family: clinical features show retinitis pigmentosa and chronic granuloma.Frontiers in genetics · 2023Article
- Yeast as a Model to Find New Drugs and Drug Targets forInternational journal of molecular sciences · 2022Review
- Blood Groups and Their Correlation with Hereditary Disease.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2022Article
- Erysense, a Lab-on-a-Chip-Based Point-of-Care Device to Evaluate Red Blood Cell Flow Properties With Multiple Clinical Applications.Frontiers in physiology · 2022Article
- Neuroacanthocytosis Syndromes: The Clinical Perspective.Contact (Thousand Oaks (Ventura County, Calif.))Review
- VPS13 Forum Proceedings: XK, XK-Related and VPS13 Proteins in Membrane Lipid Dynamics.Contact (Thousand Oaks (Ventura County, Calif.))Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMcLeod syndrome (MLS) is an X-linked multisystemic progressive disorder caused by loss of function mutations in the SUMMARY: In this review, we describe the nonhematological manifestations of MLS in comparison with those of VPS13A disease. While there are many similarities, differences such as mode of inheritance, sex distribution, age at manifestation, severity of heart involvement, frequency of feeding dystonia or of involuntary head drops may help to distinguish these disorders in the clinic. Immunohematological demonstration of the McLeod-Kell phenotype or detection of pathogenic mutations of KEY MESSAGES: (1) Patients diagnosed with the rare red cell McLeod phenotype (McLeod syndrome, MLS) require interdisciplinary collaboration of transfusion medicine specialists, neurologists, and cardiologists for both their hematological and nonhematological disease manifestations. (2) The phenotypical similarity of MLS and VPS13A disease, often leading to either confusion or insufficient diagnostic depth (under the label of "neuroacanthocytosis"), is based on interaction of the respective proteins, XK and chorein, within the cellular machinery for bulk lipid transport. (3) Overall, the term "bulk lipid transport diseases" seems useful for further research on a group of conditions that may not only share pathophysiology, but may also share treatment approaches.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.