Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
1 Online-Ressource.
- Language
-
Englisch
- Bibliographic citation
-
Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing ; volume:24 ; number:1 ; day:18 ; month:3 ; year:2024 ; pages:1-5 ; date:12.2024
BMC pediatrics ; 24, Heft 1 (18.3.2024), 1-5, 12.2024
- Creator
-
Alizadeh, Yasaman
Saidi, Hossein
Saeedi, Vahid
Kamalzadeh, Leila
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s12887-024-04690-6
- URN
-
urn:nbn:de:101:1-2405210851017.696629977425
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:57 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Alizadeh, Yasaman
- Saidi, Hossein
- Saeedi, Vahid
- Kamalzadeh, Leila
- SpringerLink (Online service)
Other Objects (12)
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
Should prenatal care providers offer pregnancy options counseling?
Prenatal counseling for myelomeningocele: prognoses, decisions and outcomes
Analyzing immune cell infiltrates in skeletal muscle of infantile-onset Pompe disease using bioinformatics and machine learning
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records
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
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
Should prenatal care providers offer pregnancy options counseling?
Prenatal counseling for myelomeningocele: prognoses, decisions and outcomes
Analyzing immune cell infiltrates in skeletal muscle of infantile-onset Pompe disease using bioinformatics and machine learning
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records
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
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
Should prenatal care providers offer pregnancy options counseling?
Prenatal counseling for myelomeningocele: prognoses, decisions and outcomes
Analyzing immune cell infiltrates in skeletal muscle of infantile-onset Pompe disease using bioinformatics and machine learning
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records
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