Zobrazeno 1 - 10
of 29
pro vyhledávání: '"David Araujo-Vilar"'
Autor:
Antia Fernandez-Pombo, Everardo Josue Diaz-Lopez, Ana I. Castro, Sofia Sanchez-Iglesias, Silvia Cobelo-Gomez, Teresa Prado-Moraña, David Araujo-Vilar
Publikováno v:
Cells, Vol 12, Iss 5, p 725 (2023)
Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known. The aim of this review was to explore the published data regarding the clinical c
Externí odkaz:
https://doaj.org/article/a73ac91d5f184d9cb7d96d85e0be43a8
Autor:
Camilla Pellegrini, Marta Columbaro, Elisa Schena, Sabino Prencipe, Davide Andrenacci, Patricia Iozzo, Maria Angela Guzzardi, Cristina Capanni, Elisabetta Mattioli, Manuela Loi, David Araujo-Vilar, Stefano Squarzoni, Saverio Cinti, Paolo Morselli, Assuero Giorgetti, Laura Zanotti, Alessandra Gambineri, Giovanna Lattanzi
Publikováno v:
Experimental and Molecular Medicine, Vol 51, Iss 8, Pp 1-17 (2019)
Fat tissue disorders: Dysfunctional fat cell differentiation An abnormal distribution of fatty tissues associated with certain tissue disorders is driven by disrupted fat cell differentiation. Type 2 familial partial lipodystrophy (FPLD2) is a geneti
Externí odkaz:
https://doaj.org/article/acb5e923c2674727aca3ca4769ad4e1d
Autor:
Christian Costa-Lathan, Nestor Vazquez-Agra, Ana-Teresa Marques-Afonso, Anton Cruces-Sande, Miguel-Angel Martinez-Olmos, David Araujo-Vilar, Alvaro Hermida-Ameijeiras
Publikováno v:
Journal of Investigative Medicine. 71:149-158
We aimed to evaluate the role of plasma phenylalanine (Phe) levels and its fluctuations in some neurocognitive domains and brain magnetic resonance imaging (MRI) findings in adult patients with phenylketonuria (PKU). It was an observational study tha
Autor:
David Araujo-Vilar, Antía Fernández-Pombo, Silvia Cobelo-Gómez, Ana I. Castro, Sofía Sánchez-Iglesias
Publikováno v:
Endocrinología, Diabetes y Nutrición. 70:290-292
Autor:
Nivedita Patni, Craig Chard, David Araújo-Vilar, Helen Phillips, David A. Magee, Baris Akinci
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Lipodystrophy syndromes are a heterogeneous group of rare, life-limiting diseases characterized by a selective loss of adipose tissue and severe metabolic complications. There is a paucity of information describing the experiences
Externí odkaz:
https://doaj.org/article/e797b6f4aab84c6e8ee22d247b480f80
Autor:
Everardo Josué Díaz-López, Sofía Sánchez-Iglesias, Ana I. Castro, Silvia Cobelo-Gómez, Teresa Prado-Moraña, David Araújo-Vilar, Antia Fernandez-Pombo
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 17, p 9324 (2024)
Lipodystrophic laminopathies are a group of ultra-rare disorders characterised by the presence of pathogenic variants in the same gene (LMNA) and other related genes, along with an impaired adipose tissue pattern and other features that are specific
Externí odkaz:
https://doaj.org/article/4da45533364e4809b85b8b964ad7bcdd
Publikováno v:
Diabetologia Hungarica. 28:16-17
Publikováno v:
Diabetologia Hungarica. 28:83-84
Autor:
Keziah Cook, Anna Stears, David Araujo-Vilar, Ferruccio Santini, Stephen O'Rahilly, Giovanni Ceccarini, Shruti Tibrewala, Pamela Bradt, Corinne Vigouroux, Camille Vatier, David B Savage
Publikováno v:
Endocrine Abstracts.
Autor:
Morey W Haymond, David Araújo-Vilar, John Balser, James H Lewis, Ruth Louzado, Carla Musso, Julia von Schnurbein, Martin Wabitsch, on behalf of the MEASuRE group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)
Abstract Background Metreleptin, a recombinant analog of human leptin, is an approved therapy, adjunct to diet, to treat the metabolic complications of leptin deficiency in patients with lipodystrophy – a group of rare diseases characterized by a p
Externí odkaz:
https://doaj.org/article/bd7f25e0ba5b4d79bfe44bc39fc15529