A case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotype (2023)
- Authors:
- Autor USP: KOK, FERNANDO - FM
- Unidade: FM
- DOI: 10.1016/j.nmd.2023.06.004
- Subjects: DNA MITOCONDRIAL; MIOPATIAS MITOCONDRIAIS; DOENÇAS RARAS
- Language: Inglês
- Imprenta:
- Source:
- Título: Neuromuscular disorders
- ISSN: 0960-8966
- Volume/Número/Paginação/Ano: v. 33, n. 8, p. 692-696, 2023
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
ROCHA, Emanuelle Bianchi da Silva et al. A case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotype. Neuromuscular disorders, v. 33, n. 8, p. 692-696, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/57456. Acesso em: 25 fev. 2026. -
APA
Rocha, E. B. da S., Rodrigues, K. de L., Montouro, L. A. M., Coelho, E. N., Kouyoumdjian, J. A., Kok, F., et al. (2023). A case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotype. Neuromuscular disorders, 33( 8), 692-696. doi:10.1016/j.nmd.2023.06.004 -
NLM
Rocha EB da S, Rodrigues K de L, Montouro LAM, Coelho EN, Kouyoumdjian JA, Kok F, Nobrega PR, Graca CR, Morita M da PA, Estephan E de P. A case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotype [Internet]. Neuromuscular disorders. 2023 ; 33( 8): 692-696.[citado 2026 fev. 25 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57456 -
Vancouver
Rocha EB da S, Rodrigues K de L, Montouro LAM, Coelho EN, Kouyoumdjian JA, Kok F, Nobrega PR, Graca CR, Morita M da PA, Estephan E de P. A case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotype [Internet]. Neuromuscular disorders. 2023 ; 33( 8): 692-696.[citado 2026 fev. 25 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57456 - Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
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Informações sobre o DOI: 10.1016/j.nmd.2023.06.004 (Fonte: oaDOI API)
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