ReviewJournal of inherited metabolic disease2008
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.
Review in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
49 citing papers in PubMed, 135 citations in OpenAlex.
- Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease.Radiology · 2023Trial
- Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.American journal of hematology · 2017Trial
- Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storage.PloS one · 2013Trial
- Addressing kyphoscoliosis in Gaucher's disease: a multidisciplinary approach to a rare case.BMC musculoskeletal disorders · 2026Article
- French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.Orphanet journal of rare diseases · 2025Review
- Increased Lyso-Gb1 Levels in an Obese Splenectomized Gaucher Disease Type 1 Patient Treated with Eliglustat: Unacknowledged Poor Compliance or Underlying Factors.Metabolites · 2025Article
- Spanish consensus on managing pregnancy in women with Gaucher disease.Orphanet journal of rare diseases · 2025Review
- Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients.International journal of molecular sciences · 2024Article
- Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report.Annals of hematology · 2024Article
- Women with Gaucher Disease.Biomedicines · 2024Review
- Advantages of digital technology in the assessment of bone marrow involvement in Gaucher's disease.Frontiers in medicine · 2023Article
- Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review.Orphanet journal of rare diseases · 2022Review
- TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease.Journal of clinical medicine · 2021Article
- The International Collaborative Gaucher Group GRAF (Gaucher Risk Assessment for Fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients.Orphanet journal of rare diseases · 2021Article
- [Quality of life of 22 patients with type 1 Gaucher disease after enzyme replacement therapy].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2020Article
- Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement.Insights into imaging · 2019Review
- Glycoprotein Non-Metastatic Protein B: An Emerging Biomarker for Lysosomal Dysfunction in Macrophages.International journal of molecular sciences · 2018Review
- Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1.Therapeutics and clinical risk management · 2018Article
- Letter to the Editor on "Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options".Hospital pharmacy · 2017Article
- Medical Management of Pulmonary Hypertension with Unclear and/or Multifactorial Mechanisms (Group 5): Is There a Role for Pulmonary Arterial Hypertension Medications?Current hypertension reports · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 13 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Enzyme replacement was introduced as treatment for non-neuronopathic Gaucher disease more than 15 years ago. To ensure the best use of this costly ultra-orphan agent, a systematic disease management approach has been proposed by an international panel; this includes the development, by consensus, of achievable treatment goals. Here we critically review these goals and monitoring guidelines and incorporate emerging experience of the disease in the therapeutic era, as well as contemporary clinical research. This review makes recommendations related specifically to the management of pregnancy; the appropriate use of splenectomy and bisphosphonate treatment; the relevance of biochemical markers to disease monitoring; and the use of semi-quantitative methods for assessing bone marrow infiltration. In addition, we identify key areas for development, including the requirement for a validated index of disease severity; the need to correlate widely used biomarkers with long-term disease outcomes, and the desirability of establishing agreed standards for monitoring of bone disease particularly in infants and children with Gaucher disease.
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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.