ArticleMolecular genetics and metabolism reports2022
Newborn screening for Gaucher disease in Japan.
Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- 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
- T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.Cell biochemistry and biophysics · 2026Article
- 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
- Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.Orphanet journal of rare diseases · 2025Article
- Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.Human genome variation · 2024Article
- Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.International journal of neonatal screening · 2023Article
- Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan.Molecular genetics and metabolism reports · 2023Article
- Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease.Biomedicines · 2023Article
- Gene therapy for lysosomal storage diseases: Current clinical trial prospects.Frontiers in genetics · 2023Review
- Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review.Journal of clinical medicine · 2022Review
- Pilot study of newborn screening for six lysosomal diseases in Brazil.Molecular genetics and metabolismArticle
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gaucher disease (GD) is an autosomal recessive inborn metabolic disorder caused by a glucocerebrosidase (GCase) defect. GD is classified into three main types depending on accompanying neurological symptoms. Enzyme replacement therapy and substrate reduction therapy are limited in the treatment of neurological symptoms, and using genotype and GCase activity to discriminate between non-neuronopathic and neuronopathic GD may be challenging as the two sometimes phenotypically overlap. The number of patients exhibiting neurological symptoms in Japan is significantly higher than that in Europe and the United States, and newborn screening (NBS) is still not actively performed in Japan. Definitive determination of the actual frequency and proportion of the type of GD from the results of NBS remains inconclusive. We performed NBS for Fabry disease, Pompe disease, and GD, mainly in the Kyushu area in Japan. Herein, we discuss the results of NBS for GD, as well as, the insights gained from following the clinical course of patients diagnosed through NBS. A total of 155,442 newborns were screened using an enzyme activity assay using dried blood spots. We found four newborns showing lower GCase activity and were definitively diagnosed with GD by
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