Titre : | Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction |
Revue : | Genetics in medicine : official journal of the American College of Medical Genetics, 23, 5 |
Auteurs : | Li C ; Desai AK ; Gupta P ; Dempsey K ; Bhambhani V ; Hopkin RJ ; Ficicioglu C ; Tanpaiboon P ; Craigen WJ ; Rosenberg AS ; Kishnani PS |
Type de document : | Article |
Année de publication : | 05/2021 |
Pages : | p 845 |
Langues: | Anglais |
Pubmed / DOI : | Pubmed : 33495531 / DOI : 10.1038/s41436-020-01080-y |
N° Profil MNM : | 2021012 |
En ligne : | http://www.ncbi.nlm.nih.gov/pubmed/33495531 |