Zobrazeno 1 - 10
of 223
pro vyhledávání: '"P. Harvengt"'
Autor:
Sophie Welsch, Antoine Harvengt, Paola Gallo, Manon Martin, Dominique Beckers, Thierry Mouraux, Nicole Seret, Marie-Christine Lebrethon, Raphaël Helaers, Pascal Brouillard, Miikka Vikkula, Philippe A. Lysy
Publikováno v:
Diabetes & Metabolism Journal, Vol 48, Iss 5, Pp 949-959 (2024)
Background Recent diabetes subclassifications have improved the differentiation between patients with type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus despite several overlapping features, yet without considering genetic forms of diabetes
Externí odkaz:
https://doaj.org/article/77abe0ff27a345cba7ee84224367e612
Autor:
Vrinda Saraff, Annemieke M Boot, Agnès Linglart, Oliver Semler, Pol Harvengt, Angela Williams, Karen M A Bailey, Fiona Glen, Elin Haf Davies, Sue Wood, Stephen Greentree, Angela J Rylands
Publikováno v:
PLoS ONE, Vol 19, Iss 1, p e0295080 (2024)
The importance of patient centricity and keeping the patient at the heart of research design is now well recognised within the healthcare community. The involvement of patient, caregiver and clinician representatives in the study design process may h
Externí odkaz:
https://doaj.org/article/16f26078608f47bda925573937c86d22
Akademický článek
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Publikováno v:
Clinical Case Reports, Vol 11, Iss 6, Pp n/a-n/a (2023)
Key Clinical Message Kabuki syndrome is a congenital condition characterized by a set of facial dysmorphic features that often help the clinician to suspect the diagnosis. However, more insidious symptoms can rarely occur, such as manifestations of h
Externí odkaz:
https://doaj.org/article/98df6ba7ed4440b0b9b26d32f66c2378
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of clinical recommendatio
Externí odkaz:
https://doaj.org/article/39d78c0919794538b2152385aa3f8bc7
Autor:
J. Harvengt, A. Lumaka, C. Fasquelle, J. H. Caberg, M. Mastouri, A. Janssen, L. Palmeira, V. Bours
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Context: ROHHAD syndrome presents a significant resemblance to HIDEA syndrome. The latter is caused by biallelic loss-of-function variants in the P4HTM gene and encompasses hypotonia, intellectual disabilities, eye abnormalities, hypoventilation, and
Externí odkaz:
https://doaj.org/article/e83cfcbc2e6341baa5790163bed7fe7d
Autor:
Antoine A Harvengt, Olivier G Polle, Manon Martin, Aline van Maanen, Laurent Gatto, Philippe A Lysy
Publikováno v:
PLoS ONE, Vol 18, Iss 11, p e0294982 (2023)
AimsTo evaluate whether parameters of post-hypoglycemic hyperglycemia (PHH) correlated with glucose homeostasis during the first year after type 1 diabetes onset and helped to distinguish pediatric patients undergoing partial remission or not.Methods
Externí odkaz:
https://doaj.org/article/f5578409012f4d429a062e0011fde2c5
Akademický článek
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Akademický článek
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Autor:
Blandine Desse, Antoine Tran, Mathilde Butori, Sarah Marchal, Michael Afanetti, Sébastien Barthélemy, Etienne Bérard, Elisabeth Baechler, Stéphane Debelleix, Marie-Emilie Lampin, Julie Macey, Bruno Massenavette, Julie Harvengt, Ha Trang, Lisa Giovannini-Chami
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundROHHAD syndrome (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation) is rare. Rapid-onset morbid obesity is usually the first recognizable sign of this syndrome, however a subset of patients devel
Externí odkaz:
https://doaj.org/article/81437c6be2504a13b5dd2393998334d1