Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Vrinda, Saraff"'
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
Autor:
Jan Idkowiak, Suma Uday, Sabba Elhag, Timothy Barrett, Renuka Dias, Melanie Kershaw, Zainaba Mohamed, Vrinda Saraff, Ruth E. Krone
Publikováno v:
Frontiers in Clinical Diabetes and Healthcare, Vol 4 (2023)
IntroductionLanguage barriers can pose a significant hurdle to successfully educating children and young people with type 1 diabetes (CYPD) and their families, potentially influencing their glycaemic control.MethodsRetrospective case-control study as
Externí odkaz:
https://doaj.org/article/7441c4af68a94f9c907f49f469e81a8a
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Adrenal insufficiency encompasses a group of congenital and acquired disorders that lead to inadequate steroid production by the adrenal glands, mainly glucocorticoids, mineralocorticoids and androgens. These may be associated with other hormone defi
Externí odkaz:
https://doaj.org/article/99e591fbe498437aa4ef5679726a3553
Autor:
Ahmed El‐Gazzar, Barbara Voraberger, Frank Rauch, Mario Mairhofer, Katy Schmidt, Brecht Guillemyn, Goran Mitulović, Veronika Reiterer, Margot Haun, Michaela M Mayr, Johannes A Mayr, Susanne Kimeswenger, Oliver Drews, Vrinda Saraff, Nick Shaw, Nadja Fratzl‐Zelman, Sofie Symoens, Hesso Farhan, Wolfgang Högler
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 4, Pp 1-18 (2023)
Abstract Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass generally caused by defects in type I collagen structure or defects in proteins interacting with collag
Externí odkaz:
https://doaj.org/article/603d086eb1764c1e9cd37e1a82cb581f
Autor:
Ahmed El-Gazzar, Heeseog Kang, Nadja Fratzl-Zelman, Emma Webb, Aileen M. Barnes, Milena Jovanovic, Sarju G. Mehta, Vipan Datta, Vrinda Saraff, Ryan K. Dale, Frank Rauch, Joan C. Marini, Wolfgang Högler
Publikováno v:
Bone Reports, Vol 17, Iss , Pp 101603- (2022)
Loss-of-function mutations in SMAD3 cause Loeys-Dietz syndrome type 3 (LDS3), a rare autosomal-dominant connective tissue disorder characterized by vascular pathology and skeletal abnormalities. Dysregulation of TGF-β/SMAD signaling is associated wi
Externí odkaz:
https://doaj.org/article/1f68113aa43d49cb8cfd80c68511f175
Publikováno v:
Endocrine Connections, Vol 9, Iss 10, Pp 1051-1056 (2020)
X-linked hypophosphataemia (XLH) is caused by a pathogenic variant in the PHEX gene, which leads to elevated circulating FGF23. High FGF23 causes hypophosphataemia, reduced active vitamin D concentration and clinically manifests as rickets in childre
Externí odkaz:
https://doaj.org/article/7538396827af4132981a38d8e7074a20
Autor:
Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B. Bober, John Phillips, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover-Fong, Melita Irving
Publikováno v:
Therapeutic Advances in Musculoskeletal Disease, Vol 14 (2022)
Background: Achondroplasia is the most common short-limbed skeletal dysplasia resulting from gain-of-function pathogenic variants in fibroblast growth factor receptor 3 ( FGFR3 ) gene, a negative regulator of endochondral bone formation. Most treatme
Externí odkaz:
https://doaj.org/article/1c346c9389564e0d8a57401f2309d651
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Neonatologists care for newborns with either an antenatal suspicion or postnatal diagnosis of bone disease. With improved ultrasound imaging techniques, more cases of neonatal bone disorders are identified antenatally and this requires further diagno
Externí odkaz:
https://doaj.org/article/7a8f0855711e42ddbeb2c72377d7c9b5
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Abstract Background Hypophosphatasia (HPP) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and symptoms, including bone mineralization defects, respiratory problems,
Externí odkaz:
https://doaj.org/article/896b1344bd8f4dfa8894c75ee659dcfb
Autor:
Suma Uday, Nadja Fratzl-Zelman, Paul Roschger, Klaus Klaushofer, Ashish Chikermane, Vrinda Saraff, Ted Tulchinsky, Tom D. Thacher, Tamas Marton, Wolfgang Högler
Publikováno v:
BMC Pediatrics, Vol 18, Iss 1, Pp 1-9 (2018)
Abstract Background Whilst hypocalcemic complications from vitamin D deficiency are considered rare in high-income countries, they are highly prevalent among Black, Asian and Minority Ethnic (BAME) group with darker skin. To date, the extent of osteo
Externí odkaz:
https://doaj.org/article/ad9d699364e9440e99ddaad08e776384