ReviewEuropean journal of pediatrics2013
Revised recommendations for the management of Gaucher disease in children.
Review in European journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
What it found
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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
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 122 citations in OpenAlex.
- Investigating the therapeutic profile of velaglucerase alfa in paediatric patients with Gaucher disease: a systematic review across all paediatric age groups.Orphanet journal of rare diseases · 2026Pooled it
- Trial
- 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
- Trial
- Establishment of an N-Glycan Profiling Method for Three ERT Enzymes Used in Gaucher Disease Therapy.Molecules (Basel, Switzerland) · 2026Article
- Gaucher disease: the hematologist's perspective of a multisystemic disorder.Annals of hematology · 2026Review
- Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.Molecular genetics and metabolism reports · 2025Article
- French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.Orphanet journal of rare diseases · 2025Review
- Saccadic Eye Movement as a Harbinger of Gaucher's Disease in Children: A Case Report of Diagnostic Difficulty.Clinical case reports · 2025Article
- Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.American journal of medical genetics. Part C, Seminars in medical genetics · 2025Review
- Assessing the Value for Money of Enzyme Replacement Therapy in Gaucher Disease Types 1 and 3b: Can Expanded Coverage Be Justified?PharmacoEconomics - open · 2025Article
- Newborn Screening for Gaucher Disease: The New Jersey Experience.International journal of neonatal screening · 2025Article
- Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment.Orphanet journal of rare diseases · 2025Review
- Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience.Frontiers in pediatrics · 2025Article
- A Real-World Investigation of MRI Changes in Bone in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: The EIROS Study.Journal of clinical medicine · 2024Article
- Economic Burden of Gaucher Disease at a Tertiary Care Public Hospital in Mumbai.Indian journal of pediatrics · 2024Article
- Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency.Frontiers in pediatrics · 2024Article
- Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.Orphanet journal of rare diseases · 2023Article
- Use of Ambroxol as Therapy for Gaucher Disease.JAMA network open · 2023Article
- Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma.Children (Basel, Switzerland) · 2023Article
Corrections and comments
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Authors and funding
11 authors at 9 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledGaucher disease is an inherited pan-ethnic disorder that commonly begins in childhood and is caused by deficient activity of the lysosomal enzyme glucocerebrosidase. Two major phenotypes are recognized: non-neuropathic (type 1) and neuropathic (types 2 and 3). Symptomatic children are severely affected and manifest growth retardation, delayed puberty, early-onset osteopenia, significant splenomegaly, hepatomegaly, thrombocytopenia, anemia, severe bone pain, acute bone crises, and fractures. Symptomatic children with types 1 or 3 should receive enzyme replacement therapy, which will prevent debilitating and often irreversible disease progression and allow those with non-neuropathic disease to lead normal healthy lives. Children should be monitored every 6 months (physical exam including growth, spleen and liver volume, neurologic exam, hematologic indices) and have one to two yearly skeletal assessments (bone density and imaging, preferably with magnetic resonance, of lumbar vertebrae and lower limbs), with specialized cardiovascular monitoring for some type 3 patients. Response to treatment will determine the frequency of monitoring and optimal dose of enzyme replacement. Treatment of children with type 2 (most severe) neuropathic Gaucher disease is supportive. Pre-symptomatic children, usually with type 1 Gaucher, increasingly are being detected because of affected siblings and screening in high-prevalence communities. In this group, annual examinations (including bone density) are recommended. However, monitoring of asymptomatic children with affected siblings should be guided by the age and severity of manifestations in the first affected sibling. Treatment is necessary only if signs and symptoms develop.
conclusionEarly detection and treatment of symptomatic types 1 and 3 Gaucher disease with regular monitoring will optimize outcome. Pre-symptomatic children require regular monitoring. Genetic counseling is important.
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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.