ReviewOrphanet journal of rare diseases2010
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.
Review in Orphanet journal of rare diseases, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.International journal of molecular sciences · 2021Pooled it
- Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.Journal of medical genetics · 2024Trial
- Genetics of intracerebral hemorrhage.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026Review
- Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.Investigative ophthalmology & visual science · 2026Review
- The involvement of underrepresented countries in the European rare diseases research alliance: Morocco's assets.Orphanet journal of rare diseases · 2025Article
- Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).Orphanet journal of rare diseases · 2025Review
- X-linked competition - implications for human development and disease.Nature reviews. Genetics · 2025Review
- The multifaceted challenges faced by women in the field of inherited metabolic disorders.Orphanet journal of rare diseases · 2025Review
- Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study.Brain sciences · 2025Article
- Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.International journal of molecular sciences · 2025Article
- Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.Human genetics · 2024Article
- Impact of Replacement Therapy on Pregnancy Outcomes in Hemophilia Carriers: A Historical Cohort Study in Saudi Arabia.Life (Basel, Switzerland) · 2024Article
- Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family.Journal of clinical medicine · 2023Article
- Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism?Balkan journal of medical genetics : BJMG · 2023Article
- X-Chromosome Inactivation and Related Diseases.Genetics research · 2022Review
- X-factors in human disease: impact of gene content and dosage regulation.Human molecular genetics · 2021Review
- Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report.Renal failure · 2020Article
- The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.BMC medical genetics · 2020Article
- Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.International journal of molecular sciences · 2020Review
- Fabry Disease: A New Model of Premature Ageing?Nephron · 2020Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II). These two diseases show a very different pattern regarding expression on heterozygotes, which does not seem to be explained by the X-inactivation mechanism only. While MPS II heterozygotes are asymptomatic in most instances, in Fabry disease most of female carriers show some disease manifestation, which is sometimes severe. It is known that there is a major difference among X-linked diseases depending on the cell autonomy of the gene product involved and, therefore, on the occurrence of cross-correction. Since lysosomal enzymes are usually secreted and uptaken by neighbor cells, the different findings between MPS II and Fabry disease heterozygotes can also be due to different efficiency of cross-correction (higher in MPS II and lower in Fabry disease). In this paper, we review these two X-linked LD in order to discuss the mechanisms that could explain the different rates of penetrance and expressivity observed in the heterozygotes; this could be helpful to better understand the expression of X-linked traits.
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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.