ArticleJournal of human genetics2017
Successful newborn screening for Gaucher disease using fluorometric assay in China.
Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 41 citations in OpenAlex.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review.International journal of molecular sciences · 2020Pooled it
- Review
- 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
- From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease.International journal of molecular sciences · 2026Review
- The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea.Orphanet journal of rare diseases · 2025Article
- Newborn Screening for Gaucher Disease: The New Jersey Experience.International journal of neonatal screening · 2025Article
- [A case of adult Gaucher's disease mainly initially manifested as hepatosplenomegaly].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Article
- Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.International journal of molecular sciences · 2024Article
- Epidemiology and distribution of 207 rare diseases in China: A systematic literature review.Intractable & rare diseases research · 2024Review
- Newborn Screening for 6 Lysosomal Storage Disorders in China.JAMA network open · 2024Article
- Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.International journal of neonatal screening · 2023Article
- Use of Ambroxol as Therapy for Gaucher Disease.JAMA network open · 2023Article
- Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease.International journal of molecular sciences · 2023Article
- Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review.Journal of clinical medicine · 2022Review
- Newborn screening for genetic disorders: Current status and prospects for the future.Pediatric investigation · 2022Review
- Newborn screening for Gaucher disease in Japan.Molecular genetics and metabolism reports · 2022Article
- Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?International journal of molecular sciences · 2022Article
- Cytogenetic and Biochemical Genetic Techniques for Personalized Drug Therapy in Europe.Diagnostics (Basel, Switzerland) · 2021Review
- Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants.JIMD reports · 2021Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gaucher disease (GD) is an inherited metabolic disorder that involves accumulation of glycolipid glucocerebroside in monocyte-macrophage cells, which can result in multiple organ damage. Enzyme replacement and substrate reduction therapies have improved the potential for early diagnosis and treatment. Determining the true incidence of this rare disease is critical for relevant policy establishment. Newborn screening allows for early diagnosis and an comparatively accurate incidence of GD. A fluorometric method to detect acid β-glucocerebrosidase (GBA) activity on a dried blood spot punch was developed. Validity and feasibility of the fluorometric method was demonstrated by examining 116 healthy controls, 19 confirmed GD patients and 19 obligate carriers. GBA activity was measured on dried blood spots of 80 855 newborns. Samples from positively screened newborns were reanalyzed by a leukocyte GBA activity test and GBA gene analysis. Plasma glucosylsphingosine level was determined as a biomarker of the pathophysiology of GD. GD patients were distinguished from healthy controls and obligate carriers using the fluorometric method. Mean GBA activity in newborn screening specimens was 145.69±44.76 μmol l
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Registered trials
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