ReviewOrphanet journal of rare diseases2013
Fertility preservation in female classic galactosemia patients.
Review in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 38 citations in OpenAlex.
- Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study.Journal of inherited metabolic disease · 2025Article
- Endocrine system disturbances in children with inherited metabolic diseases: a narrative review.Frontiers in endocrinology · 2025Review
- The hypergonadotropic hypogonadism conundrum of classic galactosemia.Human reproduction update · 2023Article
- Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.Biomolecules · 2022Review
- Pathophysiology and management of classic galactosemic primary ovarian insufficiency.Reproduction & fertility · 2021Review
- Fertility preservation for genetic diseases leading to premature ovarian insufficiency (POI).Journal of assisted reproduction and genetics · 2021Review
- Current and Future Treatments for Classic Galactosemia.Journal of personalized medicine · 2021Review
- Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia.International journal of molecular sciences · 2019Review
- Cryopreservation of ovarian tissue may be considered in young girls with galactosemia.Journal of assisted reproduction and genetics · 2018Article
- Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities.Journal of assisted reproduction and genetics · 2018Review
- Sweet and sour: an update on classic galactosemia.Journal of inherited metabolic disease · 2017Review
- Neonatal Screening: Cost-utility Analysis for Galactosemia.Iranian journal of public health · 2017Article
- Early menopause: A hazard to a woman's health.The Indian journal of medical research · 2016Review
- Pregnancy in women with inherited metabolic disease.Obstetric medicine · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. This is a major concern for patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The unique pathophysiology of classic galactosemia with a severely reduced follicle pool at an early age requires an adjusted approach. In this article recommendations for physicians based on current knowledge concerning galactosemia and fertility preservation are made. Fertility preservation is only likely to be successful in very young prepubertal patients. In this group, cryopreservation of ovarian tissue is currently the only available technique. However, this technique is not ready for clinical application, it is considered experimental and reduces the ovarian reserve. Fertility preservation at an early age also raises ethical questions that should be taken into account. In addition, spontaneous conception despite POI is well described in classic galactosemia. The uncertainty surrounding fertility preservation and the significant chance of spontaneous pregnancy warrant counseling towards conservative application of these techniques. We propose that fertility preservation should only be offered with appropriate institutional research ethics approval to classic galactosemia girls at a young prepubertal age.
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What OpenQuestion holds
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.