An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
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Englisch
- Bibliographic citation
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An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records ; volume:14 ; number:1 ; day:14 ; month:9 ; year:2024 ; pages:1-14 ; date:12.2024
Scientific reports ; 14, Heft 1 (14.9.2024), 1-14, 12.2024
- Creator
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Rustamov, Jaloliddin
Rustamov, Zahiriddin
Mohamad, Mohd Saberi
Zaki, Nazar
Al Tenaiji, Amal
Al Harbi, Mariam
Al Jasmi, Fatma
- Contributor
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SpringerLink (Online service)
- DOI
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10.1038/s41598-024-72259-5
- URN
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urn:nbn:de:101:1-2411282107501.467614116258
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:31 AM CEST
Data provider
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Rustamov, Jaloliddin
- Rustamov, Zahiriddin
- Mohamad, Mohd Saberi
- Zaki, Nazar
- Al Tenaiji, Amal
- Al Harbi, Mariam
- Al Jasmi, Fatma
- SpringerLink (Online service)
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Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
Infantile Pompe disease with intrauterine onset: a case report and literature review
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel
Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
Analyzing immune cell infiltrates in skeletal muscle of infantile-onset Pompe disease using bioinformatics and machine learning
CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
Infantile Pompe disease with intrauterine onset: a case report and literature review
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel
Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
Analyzing immune cell infiltrates in skeletal muscle of infantile-onset Pompe disease using bioinformatics and machine learning
CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy