Neonatal Bone Disorders

por Saraff, Vrinda, Nadar, Ruchi, Shaw, Nick
Publicado 2021

Prevalence and Predictors of Vitamin D Insufficiency in Children: A Great Britain Population Based Study

por Absoud, Michael, Cummins, Carole, Lim, Ming J., Wassmer, Evangeline, Shaw, Nick
Publicado 2011

Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation

por Pieridou, Chariklia, Sabir, Ataf, Lancashire, Jonathan, Liang, Yifan, McMillan, Kevin, Shaw, Nick, Uday, Suma
Publicado 2023

Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations

por Daniel, Anjali B., Saraff, Vrinda, Shaw, Nick J., Yates, Robert, Mughal, M. Zulf, Padidela, Raja
Publicado 2018

Nutritional rickets in immigrant and refugee children

por Thacher, Tom D., Pludowski, Pawel, Shaw, Nick J., Mughal, M. Zulf, Munns, Craig F., Högler, Wolfgang
Publicado 2016

Prevalence and Mortality of Individuals With X-Linked Hypophosphatemia: A United Kingdom Real-World Data Analysis

por Hawley, Samuel, Shaw, Nick J, Delmestri, Antonella, Prieto-Alhambra, Daniel, Cooper, Cyrus, Pinedo-Villanueva, Rafael, Javaid, M Kassim
Publicado 2019

Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries

por Mughal, M. Zulf, Baroncelli, Giampiero I., de Lucas-Collantes, Carmen, Linglart, Agnès, Magnolato, Andrea, Raimann, Adalbert, Santos, Fernando, Schnabel, Dirk, Shaw, Nick, Nilsson, Ola
Publicado 2023

Growth and Body Composition in PKU Children—A Three-Year Prospective Study Comparing the Effects of L-Amino Acid to Glycomacropeptide Protein Substitutes

por Daly, Anne, Högler, Wolfgang, Crabtree, Nicola, Shaw, Nick, Evans, Sharon, Pinto, Alex, Jackson, Richard, Strauss, Boyd J., Wilcox, Gisela, Rocha, Júlio C., Ashmore, Catherine, MacDonald, Anita
Publicado 2021

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes

por Andrews, Afiya, Maharaj, Avinaash, Cottrell, Emily, Chatterjee, Sumana, Shah, Pratik, Denvir, Louise, Dumic, Katja, Bossowski, Artur, Mushtaq, Talat, Vukovic, Rade, Didi, Mohamed, Shaw, Nick, Metherell, Louise A, Savage, Martin O, Storr, Helen L
Publicado 2021

A Three-Year Longitudinal Study Comparing Bone Mass, Density, and Geometry Measured by DXA, pQCT, and Bone Turnover Markers in Children with PKU Taking L-Amino Acid or Glycomacrope...

por Daly, Anne, Högler, Wolfgang, Crabtree, Nicola, Shaw, Nick, Evans, Sharon, Pinto, Alex, Jackson, Richard, Ashmore, Catherine, Rocha, Júlio C., Strauss, Boyd J., Wilcox, Gisela, Fraser, William D., Tang, Jonathan C. Y., MacDonald, Anita
Publicado 2021

Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress

por El‐Gazzar, Ahmed, Voraberger, Barbara, Rauch, Frank, Mairhofer, Mario, Schmidt, Katy, Guillemyn, Brecht, Mitulović, Goran, Reiterer, Veronika, Haun, Margot, Mayr, Michaela M, Mayr, Johannes A, Kimeswenger, Susanne, Drews, Oliver, Saraff, Vrinda, Shaw, Nick, Fratzl‐Zelman, Nadja, Symoens, Sofie, Farhan, Hesso, Högler, Wolfgang
Publicado 2023

SUN-524 Burosumab Initiation In A UK XLH Cohort: Real-World Use Resonates With Research Evidence

por Dharmaraj, Poonam, Burren, Christine, Cheung, Moira, Padidela, Raja, Mughal, Zulf, Shaw, Nick, Saraff, Vrinda, Nadar, Ruchi, Randell, Tabitha, Mushtaq, Talat, Ramakrishnan, Renuka, Sennipathan, Senthil, Sakka, Sophia, Bath, Louise, Elleri, Daniela, Davies, Justin, Tucker, Ian, Arundel, Paul, Gilbey-Cross, Robyn, Tothill, Alexander, Connor, Paul, Mathieson, Leigh
Publicado 2019

SUN-525 Burosumab Experience In A UK Adolescent Population

por Dharmaraj, Poonam, Burren, Christine, Cheung, Moira, Padidela, Raja, Mughal, Zulf, Shaw, Nick, Saraff, Vrinda, Nadar, Ruchi, Randell, Tabitha, Mushtaq, Talat, Ramakrishnan, Renuka, Sennipathan, Senthil, Sakka, Sophia, Bath, Louise, Elleri, Daniela, Davies, Justin, Tucker, Ian, Arundel, Paul, Gilbey-Cross, Robyn, Tothill, Alexander, Connor, Paul, Mathieson, Leigh
Publicado 2019

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

por Reilly, Madeline Louise, Ain, Noor ul, Muurinen, Mari, Tata, Alice, Huber, Céline, Simon, Marleen, Ishaq, Tayyaba, Shaw, Nick, Rusanen, Salla, Pekkinen, Minna, Högler, Wolfgang, Knapen, Maarten F. C. M., van den Born, Myrthe, Saunier, Sophie, Naz, Sadaf, Cormier‐Daire, Valérie, Benmerah, Alexandre, Makitie, Outi
Publicado 2022

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

por Javaid, Muhammad Kassim, Boyce, Alison, Appelman-Dijkstra, Natasha, Ong, Juling, Defabianis, Patrizia, Offiah, Amaka, Arunde, Paul, Shaw, Nick, Pos, Valter Dal, Underhil, Ann, Portero, Deanna, Heral, Lisa, Heegaard, Anne-Marie, Masi, Laura, Monsell, Fergal, Stanton, Robert, Dijkstra, Pieter Durk Sander, Brandi, Maria Luisa, Chapurlat, Roland, Hamdy, Neveen Agnes Therese, Collins, Michael Terrence
Publicado 2019

Correction to: Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

por Javaid, Muhammad Kassim, Boyce, Alison, Appelman-Dijkstra, Natasha, Ong, Juling, Defabianis, Patrizia, Offiah, Amaka, Arundel, Paul, Shaw, Nick, Pos, Valter Dal, Underhil, Ann, Portero, Deanna, Heral, Lisa, Heegaard, Anne-Marie, Masi, Laura, Monsell, Fergal, Stanton, Robert, Dijkstra, Pieter Durk Sander, Brandi, Maria Luisa, Chapurlat, Roland, Hamdy, Neveen Agnes Therese, Collins, Michael Terrence
Publicado 2019

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

por Raimondo, Anne, Chakera, Ali J., Thomsen, Soren K., Colclough, Kevin, Barrett, Amy, De Franco, Elisa, Chatelas, Alisson, Demirbilek, Huseyin, Akcay, Teoman, Alawneh, Hussein, Flanagan, Sarah E., Van De Bunt, Martijn, Hattersley, Andrew T., Gloyn, Anna L., Ellard, Sian, Abduljabbar, Mohammad A., Al-Zyoud, Mahmoud, Aman, Syed, Bath, Louise, De, Parijat, Deshpande, Neeta, Durmaz, Erdem, Eickmeier, Frank, Elbarbary, Nancy Samir, Fillion, Marc, Jagadeesh, Sujatha M., Kershaw, Melanie, Khan, Waqas I., Mlynarski, Wojciech, Noyes, Kathryn, Peters, Catherine J., Shaw, Nick, Tiron, Irina, Turkkahraman, Doga, Turner, Lesley, Eltonbary, Khadiga Y., Yuksel, Bilgin
Publicado 2014