Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings (2023)
- Authors:
- Autor USP: KOK, FERNANDO - FM
- Unidade: FM
- DOI: 10.1136/jnnp-2022-330135
- Subjects: ATAXIA; CEREBELO; CRIANÇAS; NEUROLOGIA
- Language: Inglês
- Imprenta:
- Source:
- Título: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- ISSN: 0022-3050
- Volume/Número/Paginação/Ano: v. 94, n. 5, p. 405-408, 2023
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
PAIVA, Anderson Rodrigues Brandão de et al. Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, v. 94, n. 5, p. 405-408, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/57963. Acesso em: 27 fev. 2026. -
APA
Paiva, A. R. B. de, Pessoa, A. L. S., Nobrega, P. R., Moreno, C. A. M., Lynch, D. S., Taniguti, L. M., et al. (2023). Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 94( 5), 405-408. doi:10.1136/jnnp-2022-330135 -
NLM
Paiva ARB de, Pessoa ALS, Nobrega PR, Moreno CAM, Lynch DS, Taniguti LM, Kitajima JP, Freua F, Assis BDRR, Cunha P, Kok F. Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings [Internet]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2023 ; 94( 5): 405-408.[citado 2026 fev. 27 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57963 -
Vancouver
Paiva ARB de, Pessoa ALS, Nobrega PR, Moreno CAM, Lynch DS, Taniguti LM, Kitajima JP, Freua F, Assis BDRR, Cunha P, Kok F. Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings [Internet]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2023 ; 94( 5): 405-408.[citado 2026 fev. 27 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57963 - Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
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Informações sobre o DOI: 10.1136/jnnp-2022-330135 (Fonte: oaDOI API)
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