ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 27 citations in OpenAlex.
- A 53-week, open-label phase IIIb study of velaglucerase alfa in Chinese patients with type 1 Gaucher disease: Safety, efficacy, and pharmacokinetics.Molecular genetics and metabolism reports · 2026Article
- Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry.Neurology · 2026Article
- Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.Molecular genetics and metabolism reports · 2025Article
- Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder.Biochemistry and biophysics reports · 2024Review
- Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.Expert opinion on pharmacotherapy · 2021Article
- Gaucher disease - therapeutic aspects in Romania.Medicine and pharmacy reports · 2021Article
- The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.Molecular genetics and metabolism reports · 2021Article
- A Quantitative Systems Pharmacology Model of Gaucher Disease Type 1 Provides Mechanistic Insight Into the Response to Substrate Reduction Therapy With Eliglustat.CPT: pharmacometrics & systems pharmacology · 2020Article
- The N370S/R496H genotype in type 1 Gaucher disease - Natural history and implications for pre symptomatic diagnosis and counseling.Molecular genetics and metabolism reports · 2020Article
- Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease.Journal of clinical medicine · 2019Article
- Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement.Insights into imaging · 2019Review
- Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease.International journal of molecular sciences · 2019Article
- Recent advances in the diagnosis and management of Gaucher disease.Expert review of endocrinology & metabolism · 2018Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe overall published experience with pediatric type 1 Gaucher disease (GD1) has been based on ascertainment through clinical presentation of the disease. We describe the longitudinal follow-up in a presymptomatic pediatric cohort.
methodsThe cohort includes children diagnosed with GD1, either prenatally or postnatally by molecular genetic testing, and followed for clinical care at our center from 1998 to 2016. All patients' parents were GBA mutation carriers identified through carrier screening programs. Longitudinal clinical, laboratory, and imaging data were obtained through chart review.
resultsThirty-eight patients aged 1-18 years (mean at last visit 6.9 ± 4.1 years) were followed, including 32 p.N409S homozygotes and 6 p.N409S/p.R535H compound heterozygotes. At the last evaluation, a minority had hematological (5%), bone (15%), or linear growth (19%) issues. Only 12% had splenomegaly and 74% had moderate hepatomegaly. Chitotriosidase activity varied widely (6-5,640 nmol/hour/ml) and generally increased with age. Pediatric Gaucher severity scores (GSS) remained stable and within the mild-disease range for most (95%). Treatment for progressive disease during this period was recommended for four children.
conclusionMost children with the p.N409S/p.N409S and p.N409S/p.R535H GD1 genotypes have minimal disease manifestations and progression during childhood and can be monitored using limited assessments. Those with other mutations may require additional monitoring. These data are valuable for newborn screening and counseling.Genet Med advance online publication 13 October 2016.
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