A novel mutation of the GAA gene in a patient with early-onset pompe disease lacking a disease-specific pathology
Küçük Resim Yok
Tarih
2016
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Editions Medecine et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
[No abstract available]
Açıklama
Anahtar Kelimeler
aminotransferase, creatine kinase, glucan 1,4 alpha glucosidase, alpha glucosidase, GAA protein, human, aminotransferase blood level, case report, creatine kinase blood level, disease severity, echocardiography, enzyme activity, enzyme replacement, gene mutation, genetic analysis, glycogen storage disease type 2, heart ejection fraction, heart failure, hepatomegaly, homozygote, human, hypertrophic cardiomyopathy, infant, Letter, male, missense mutation, motor development, muscle hypotonia, muscle weakness, neurologic examination, systolic heart murmur, tendon reflex, vaginal delivery, genetics, glycogen storage disease type 2, pathology, pathophysiology, alpha-Glucosidases, Glycogen Storage Disease Type II, Humans, Infant, Male, Mutation, Missense
Kaynak
Genetic Counseling
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
27
Sayı
2
