Loss-of-function NNT mutations impair antioxidantes mechanisms and decreases cortisol secretion in patients with famililar glucocorticoid deficiency (2019)
- Authors:
- USP affiliated authors: SILVA JUNIOR, WILSON ARAÚJO DA - FMRP ; MOREIRA, AYRTON CUSTODIO - FMRP ; ELIAS, LUCILA LEICO KAGOHARA - FMRP ; CASTRO, MARGARET DE - FMRP ; LEOPOLDINO, ANDRÉIA MACHADO - FCFRP ; ANTONINI, SONIR ROBERTO RAUBER - FMRP ; LACCHINI, FERNANDA BORCHERS COELI - FCFRP ; BODONI, ALINE FACCIOLI - FMRP
- Unidades: FMRP; FCFRP
- DOI: 10.1159/000501868
- Subjects: CORTISOL; HORMÔNIOS GLICOCORTICOIDES
- Language: Inglês
- Imprenta:
- Source:
- Título: Hormone Research in Paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 91, suppl. 1, p. 108, res. RFC13.4, 2019
- Conference titles: Annual Meeting European Society for Paediatric Endocrinology - ESPE
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
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ABNT
BODONI, Aline F. et al. Loss-of-function NNT mutations impair antioxidantes mechanisms and decreases cortisol secretion in patients with famililar glucocorticoid deficiency. Hormone Research in Paediatrics. Basel: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. Disponível em: https://doi.org/10.1159/000501868. Acesso em: 04 ago. 2025. , 2019 -
APA
Bodoni, A. F., Coeli-Lacchini, F. B., Gebenlian, J. L., Sobral, L. M., Moreira, A. C., Elias, L. L. K., et al. (2019). Loss-of-function NNT mutations impair antioxidantes mechanisms and decreases cortisol secretion in patients with famililar glucocorticoid deficiency. Hormone Research in Paediatrics. Basel: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. doi:10.1159/000501868 -
NLM
Bodoni AF, Coeli-Lacchini FB, Gebenlian JL, Sobral LM, Moreira AC, Elias LLK, Silva Junior WA da, Castro M de, Leopoldino AM, Antonini SRR. Loss-of-function NNT mutations impair antioxidantes mechanisms and decreases cortisol secretion in patients with famililar glucocorticoid deficiency [Internet]. Hormone Research in Paediatrics. 2019 ; 91 108.[citado 2025 ago. 04 ] Available from: https://doi.org/10.1159/000501868 -
Vancouver
Bodoni AF, Coeli-Lacchini FB, Gebenlian JL, Sobral LM, Moreira AC, Elias LLK, Silva Junior WA da, Castro M de, Leopoldino AM, Antonini SRR. Loss-of-function NNT mutations impair antioxidantes mechanisms and decreases cortisol secretion in patients with famililar glucocorticoid deficiency [Internet]. Hormone Research in Paediatrics. 2019 ; 91 108.[citado 2025 ago. 04 ] Available from: https://doi.org/10.1159/000501868 - Clinical, molecular, functional, and structural characterization of CYP17A1 mutations in brazilian patients with 17-hydroxylase deficiency
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- Mitochondrial oxidative stress and glucocorticoid family deficiency: phenotypic and functional characterization of the new variant p.G866D in the gene Nicotinamide Nucleotide Transidrogenase (NNT)
- Whole exome: análise exploratória do exoma de um paciente com deficiência familiar de glicocorticoide
- Whole exome sequencing identifies a homozygous mutation in nicotinamide nucleotide transidrogenase as the cause of familial glucocorticoid deficiency
- Time course of central precocious puberty development caused by an MKRN3 gene mutation: a prismatic care
- Mechanisms in endocrinology: a sense of time of the glucocorticoid circadian clock: from the ontogeny to the diagnosis of Cushing’s syndrome
- Commom polymorphisms in GHRd3, IGFBP3 and IGF1 genes do not explain GH-IGF-I dissociation in treated acromegalic patients
- Endocrine disorders in pediatric: onset langerhans cell histiocytosis
Informações sobre o DOI: 10.1159/000501868 (Fonte: oaDOI API)
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