Atıf İçin Kopyala
Kose M., Kose E., Kagnici M., Unalp A., Yilmaz U., Yilmaz M. M., ...Daha Fazla
MEDICAL JOURNAL OF BAKIRKOY, cilt.16, sa.1, ss.49-55, 2020 (ESCI)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
16
Sayı:
1
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Basım Tarihi:
2020
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Doi Numarası:
10.5222/bmj.2020.91855
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Dergi Adı:
MEDICAL JOURNAL OF BAKIRKOY
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Derginin Tarandığı İndeksler:
Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
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Sayfa Sayıları:
ss.49-55
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Anahtar Kelimeler:
Pompe disease, hypertrophic cardiomyopathy, hypotonicity, DISEASE TYPE-II, GENOTYPE-PHENOTYPE CORRELATION, ALGLUCOSIDASE ALPHA, SPANISH PATIENTS, MUTATIONS, FREQUENCY, SURVIVAL, THERAPY, GENE
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Dokuz Eylül Üniversitesi Adresli:
Evet
Özet
Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessive inherited lysosomal storage disease caused by pathogenic variants in the GAA gene that encodes lysosomal acid alpha-glucosidadase (GAA) enzyme. The incidence of the disease varies from country to country. PD is mainly presents as two groups of phenotypes as infantile-onset Pompe disease (IOPD) and late-onset Pompe disease.