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1 Ergebnisse
1
Genotype, phenotype and treatment outcomes of 17 Malaysian ..:
Mei-Yan Chan
;
Julaina Abdul Jalil
;
Yusnita Yakob
...
https://doi.org/10.1186/s13023-023-02848-6. , 2023
Link:
https://doi.org/10.1186/s13023-023-02848-6
RT Journal T1
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:4d80c9ff956948ffb92f6bbfcbd5b9cb&Exemplar=1&LAN=DE A1 Mei-Yan Chan A1 Julaina Abdul Jalil A1 Yusnita Yakob A1 Siti Aishah Abdul Wahab A1 Ernie Zuraida Ali A1 Mohd Khairul Nizam Mohd Khalid A1 Huey-Yin Leong A1 Hui-Bein Chew A1 Jeya Bawani Sivabalakrishnan A1 Lock-Hock Ngu PB BMC YR 2023 K1 Acid alpha-glucosidase K1 Enzyme replacement therapy K1 GAA K1 Infantile-onset Pompe disease K1 Lysosomal storage disease K1 Medicine K1 R JF https://doi.org/10.1186/s13023-023-02848-6 LK http://dx.doi.org/https://doi.org/10.1186/s13023-023-02848-6 DO https://doi.org/10.1186/s13023-023-02848-6 SF ELIB - SuUB Bremen
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