1 resultado para pituitary hormonal deficiency
em Repositório do Centro Hospitalar de Lisboa Central, EPE - Centro Hospitalar de Lisboa Central, EPE, Portugal
Filtro por publicador
- Aberystwyth University Repository - Reino Unido (1)
- Acceda, el repositorio institucional de la Universidad de Las Palmas de Gran Canaria. España (6)
- AMS Tesi di Dottorato - Alm@DL - Università di Bologna (5)
- Aquatic Commons (10)
- ARCA - Repositório Institucional da FIOCRUZ (1)
- Archive of European Integration (1)
- Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco (1)
- Aston University Research Archive (2)
- B-Digital - Universidade Fernando Pessoa - Portugal (1)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (38)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP) (17)
- Biblioteca Digital de Teses e Dissertações Eletrônicas da UERJ (4)
- BORIS: Bern Open Repository and Information System - Berna - Suiça (221)
- Brock University, Canada (2)
- Bucknell University Digital Commons - Pensilvania - USA (1)
- Cambridge University Engineering Department Publications Database (3)
- CentAUR: Central Archive University of Reading - UK (15)
- Chinese Academy of Sciences Institutional Repositories Grid Portal (21)
- Cochin University of Science & Technology (CUSAT), India (7)
- Cor-Ciencia - Acuerdo de Bibliotecas Universitarias de Córdoba (ABUC), Argentina (1)
- CORA - Cork Open Research Archive - University College Cork - Ireland (1)
- Deakin Research Online - Australia (72)
- DI-fusion - The institutional repository of Université Libre de Bruxelles (19)
- Digital Archives@Colby (1)
- DigitalCommons@The Texas Medical Center (19)
- Duke University (4)
- eResearch Archive - Queensland Department of Agriculture; Fisheries and Forestry (5)
- Helda - Digital Repository of University of Helsinki (10)
- Indian Institute of Science - Bangalore - Índia (24)
- Instituto Nacional de Saúde de Portugal (2)
- Lume - Repositório Digital da Universidade Federal do Rio Grande do Sul (10)
- National Center for Biotechnology Information - NCBI (75)
- Plymouth Marine Science Electronic Archive (PlyMSEA) (3)
- Publishing Network for Geoscientific & Environmental Data (2)
- QUB Research Portal - Research Directory and Institutional Repository for Queen's University Belfast (80)
- Queensland University of Technology - ePrints Archive (38)
- RCAAP - Repositório Científico de Acesso Aberto de Portugal (1)
- ReCiL - Repositório Científico Lusófona - Grupo Lusófona, Portugal (1)
- Repositório do Centro Hospitalar de Lisboa Central, EPE - Centro Hospitalar de Lisboa Central, EPE, Portugal (1)
- Repositorio Institucional da UFLA (RIUFLA) (1)
- Repositório Institucional da Universidade de Aveiro - Portugal (1)
- Repositório Institucional da Universidade Federal de São Paulo - UNIFESP (2)
- Repositorio Institucional de la Universidad Nacional Agraria (1)
- Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho" (199)
- RUN (Repositório da Universidade Nova de Lisboa) - FCT (Faculdade de Cienecias e Technologia), Universidade Nova de Lisboa (UNL), Portugal (1)
- SAPIENTIA - Universidade do Algarve - Portugal (3)
- School of Medicine, Washington University, United States (5)
- Scientific Open-access Literature Archive and Repository (1)
- Universidad Autónoma de Nuevo León, Mexico (1)
- Universidad de Alicante (2)
- Universidad Politécnica de Madrid (1)
- Universidade de Lisboa - Repositório Aberto (3)
- Universidade Federal do Pará (4)
- Universidade Federal do Rio Grande do Norte (UFRN) (8)
- Université de Lausanne, Switzerland (8)
- Université de Montréal (1)
- Université de Montréal, Canada (9)
- University of Connecticut - USA (1)
- University of Michigan (3)
- University of Queensland eSpace - Australia (2)
- WestminsterResearch - UK (1)
Resumo:
17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency is a rare X-linked inborn error of isoleucine catabolism. Although this protein has been genetically implicated in Alzheimer's disease pathogenesis, studies of amyloid-β peptide (Aβ) in patients with HSD10 deficiency have not been previously reported. We found, in a severely affected child with HSD10 deficiency, undetectable levels of Aβ in the cerebrospinal fluid, together with low expression of brain-derived neurotrophic factor, α-synuclein, and serotonin metabolites. Confirmation of these findings in other patients would help elucidating mechanisms of synaptic dysfunction in this disease, and highlight the role of Aβ in both early and late periods of life.