The earliest enzyme replacement for infantile‐onset Pompe disease in Japan

Background Infantile‐onset Pompe disease (IOPD) is the most severe phenotype of a lysosomal storage disorder caused by acid alpha‐glucosidase (GAA) deficiency. An enzymatic newborn screening (NBS) program started regionally in Japan in 2013 for early enzyme replacement therapy (ERT). We report the E...

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Veröffentlicht in:	Pediatrics international 2022-01, Vol.64 (1), p.e15286-n/a
Hauptverfasser:	Tocan, Vlad, Mushimoto, Yuichi, Kojima‐Ishii, Kanako, Matsuda, Akane, Toda, Naoko, Toyomura, Daisuke, Hirata, Yuichiro, Sanefuji, Masafumi, Sawada, Takaaki, Sakai, Yasunari, Nakamura, Kimitoshi, Ohga, Shouichi
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Biochemical markers Creatine Creatine kinase CRIM status Diagnosis enzyme replacement therapy Enzymes Genotypes Hypertrophy infantile‐onset Pompe disease Infants Kinases Medical screening newborn screening Pediatrics Phenotypes Polymerase chain reaction pseudodeficiency Serum levels
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