Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt.
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| Title: | Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt. |
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| Authors: | Youssef MAM; Pediatric Hematology Unit, Children's Hospital, Faculty of Medicine, Assiut University, Assiut, Egypt. mamuosif2000@aun.edu.eg., Elsayed SM; Medical Genetic Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Elsayh KI; Pediatric Hematology Unit, Children's Hospital, Faculty of Medicine, Assiut University, Assiut, Egypt., Taha SA; Pediatric Department, Faculty of Medicine, Suez University, Suez, Egypt., Abdelmotogaly HSM; Pediatric department, Faculty of Medicine, New Valley University, Kharga, Egypt., Embaby MM; Pediatric Hematology Unit, Children's Hospital, Faculty of Medicine, Assiut University, Assiut, Egypt. |
| Source: | Molecular and cellular pediatrics [Mol Cell Pediatr] 2025 Oct 01; Vol. 12 (1), pp. 14. Date of Electronic Publication: 2025 Oct 01. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Country of Publication: Germany NLM ID: 101660689 Publication Model: Electronic Cited Medium: Print ISSN: 2194-7791 (Print) Linking ISSN: 21947791 NLM ISO Abbreviation: Mol Cell Pediatr Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2194-7791 |
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| DOI: | 10.1186/s40348-025-00200-5 |
