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Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening.
Genes (Basel). 2024 Jun 29;15(7):858. doi: 10.3390/genes15070858.
Genes (Basel). 2024.
PMID: 39062637
Free PMC article.
Review.
A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype.
da Silva Rocha EB, de Lima Rodrigues K, Montouro LAM, Coelho ÉN, Kouyoumdjian JA, Kok F, Nóbrega PR, Graca CR, Morita MDPA, Estephan EP.
da Silva Rocha EB, et al. Among authors: morita mdpa.
Neuromuscul Disord. 2023 Aug;33(8):692-696. doi: 10.1016/j.nmd.2023.06.004. Epub 2023 Jun 21.
Neuromuscul Disord. 2023.
PMID: 37429773
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