An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
1 Online-Ressource.
- Sprache
-
Englisch
- Erschienen in
-
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
- Urheber
-
Rustamov, Jaloliddin
Rustamov, Zahiriddin
Mohamad, Mohd Saberi
Zaki, Nazar
Al Tenaiji, Amal
Al Harbi, Mariam
Al Jasmi, Fatma
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1038/s41598-024-72259-5
- URN
-
urn:nbn:de:101:1-2411282107501.467614116258
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:31 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Rustamov, Jaloliddin
- Rustamov, Zahiriddin
- Mohamad, Mohd Saberi
- Zaki, Nazar
- Al Tenaiji, Amal
- Al Harbi, Mariam
- Al Jasmi, Fatma
- SpringerLink (Online service)
Ähnliche Objekte (12)
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
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