Zobrazeno 1 - 10
of 190
pro vyhledávání: '"Nick Shaw"'
Publikováno v:
PLOS Global Public Health, Vol 4, Iss 1, p e0002790 (2024)
There is an increase in calls across diverse issues for a "public health approach" however, it is not clear whether there is any shared understanding in approach in its conceptualisation or implementation. Our aims were to (1) identify and categorise
Externí odkaz:
https://doaj.org/article/f2c5f742b1a847509b3bf3637c2f33c6
Autor:
Chariklia Pieridou, Ataf Sabir, Jonathan Lancashire, Yifan Liang, Kevin McMillan, Nick Shaw, Suma Uday
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
BackgroundOsteosclerotic metaphyseal dysplasia (OSMD, OMIM 615198) is an extremely rare autosomal recessive osteopetrosis disorder resulting in a distinctive pattern of osteosclerosis of the metaphyseal margins of long tubular bones. To date, only th
Externí odkaz:
https://doaj.org/article/73494b5096664acb9a84390d4b3d68e5
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 n/a-n/a (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:
M. Zulf Mughal, Giampiero I. Baroncelli, Carmen de Lucas-Collantes, Agnès Linglart, Andrea Magnolato, Adalbert Raimann, Fernando Santos, Dirk Schnabel, Nick Shaw, Ola Nilsson
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2023)
Given the relatively recent introduction of burosumab in the management of X-linked hypophosphatemia (XLH), there is limited real-world data to guide its use in clinical practice. As a group of European physicians experienced with burosumab treatment
Externí odkaz:
https://doaj.org/article/cf31ca10d592471fad91e3725e089c67
Autor:
Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton, Pieter Durk Sander Dijkstra, Maria Luisa Brandi, Roland Chapurlat, Neveen Agnes Therese Hamdy, Michael Terrence Collins
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-17 (2019)
Abstract Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clin
Externí odkaz:
https://doaj.org/article/bbcbbee103a0444987b518c3f8cf2459
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
Autor:
Anne Daly, Wolfgang Högler, Nicola Crabtree, Nick Shaw, Sharon Evans, Alex Pinto, Richard Jackson, Catherine Ashmore, Júlio C. Rocha, Boyd J. Strauss, Gisela Wilcox, William D. Fraser, Jonathan C. Y. Tang, Anita MacDonald
Publikováno v:
Nutrients, Vol 13, Iss 6, p 2075 (2021)
In patients with phenylketonuria (PKU), treated by diet therapy only, evidence suggests that areal bone mineral density (BMDa) is within the normal clinical reference range but is below the population norm. Aims: To study longitudinal bone density, m
Externí odkaz:
https://doaj.org/article/a4126873ae3145c4a6503ccc32b5bd63
Autor:
Anne Daly, Wolfgang Högler, Nicola Crabtree, Nick Shaw, Sharon Evans, Alex Pinto, Richard Jackson, Boyd J. Strauss, Gisela Wilcox, Júlio C. Rocha, Catherine Ashmore, Anita MacDonald
Publikováno v:
Nutrients, Vol 13, Iss 4, p 1323 (2021)
Protein quality and quantity are important factors in determining lean body (muscle) mass (LBM). In phenylketonuria (PKU), protein substitutes provide most of the nitrogen, either as amino acids (AA) or glycomacropeptide with supplementary amino acid
Externí odkaz:
https://doaj.org/article/75f9f9603abc4c6e897f9dcce552bf1e
Autor:
Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton, Pieter Durk Sander Dijkstra, Maria Luisa Brandi, Roland Chapurlat, Neveen Agnes Therese Hamdy, Michael Terrence Collins
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-1 (2019)
The original version of this article [1] unfortunately included an error to an author’s name. Paul Arundel was inadvertently presented as Paul Arunde.
Externí odkaz:
https://doaj.org/article/03b8bed7003b41bc9e87d962f107425f
Publikováno v:
PLoS ONE, Vol 6, Iss 7, p e22179 (2011)
To evaluate the prevalence and predictors of vitamin D insufficiency (VDI) in children in Great Britain.A nationally representative cross-sectional study survey of children (1102) aged 4-18 years (999 white, 570 male) living in private households (Ja
Externí odkaz:
https://doaj.org/article/37370fcdf9994dc7857edea4bf217288