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2018 | 1 |
2022 | 1 |
2024 | 0 |
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Congenital bilateral cataracts in newborns exposed to elexacaftor-tezacaftor-ivacaftor in utero and while breast feeding.
J Cyst Fibros. 2022 Nov;21(6):1074-1076. doi: 10.1016/j.jcf.2022.10.004. Epub 2022 Oct 18.
J Cyst Fibros. 2022.
PMID: 36266182
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.
Fecarotta S, Gragnaniello V, Della Casa R, Romano A, Raiano E, Torella A, Savarese M, Nigro V, Strisciuglio P, Andria G, Parenti G.
Fecarotta S, et al.
Neuromuscul Disord. 2018 Nov;28(11):956-960. doi: 10.1016/j.nmd.2018.07.001. Epub 2018 Jul 19.
Neuromuscul Disord. 2018.
PMID: 30126629
The patient was affected by a congenital progressive muscular dystrophy since the first month of life, associated with psychomotor delay, seizures, and congenital bilateral cataracts. Despite physical therapy he had a progressive motor impairment. At the age …
The patient was affected by a congenital progressive muscular dystrophy since the first month of life, associated with psychomotor delay, se …
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