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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Youssef+MAM%22">Youssef MAM</searchLink>; Pediatric Hematology Unit, Children's Hospital, Faculty of Medicine, Assiut University, Assiut, Egypt. mamuosif2000@aun.edu.eg.<br /><searchLink fieldCode="AU" term="%22Elsayed+SM%22">Elsayed SM</searchLink>; Medical Genetic Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Elsayh+KI%22">Elsayh KI</searchLink>; Pediatric Hematology Unit, Children's Hospital, Faculty of Medicine, Assiut University, Assiut, Egypt.<br /><searchLink fieldCode="AU" term="%22Taha+SA%22">Taha SA</searchLink>; Pediatric Department, Faculty of Medicine, Suez University, Suez, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdelmotogaly+HSM%22">Abdelmotogaly HSM</searchLink>; Pediatric department, Faculty of Medicine, New Valley University, Kharga, Egypt.<br /><searchLink fieldCode="AU" term="%22Embaby+MM%22">Embaby MM</searchLink>; Pediatric Hematology Unit, Children's Hospital, Faculty of Medicine, Assiut University, Assiut, Egypt.
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  Data: <searchLink fieldCode="JN" term="%22101660689%22">Molecular and cellular pediatrics</searchLink> [Mol Cell Pediatr] 2025 Oct 01; Vol. 12 (1), pp. 14. <i>Date of Electronic Publication: </i>2025 Oct 01.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101660689 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2194-7791 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221947791%22">21947791 </searchLink><i>NLM ISO Abbreviation: </i>Mol Cell Pediatr <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1186/s40348-025-00200-5
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              Text: 2025 Oct 01
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