日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The lived experience of adolescents with X-linked hypophosphataemia treated with burosumab at end of skeletal growth: a mixed-methods analysis

接受布罗索单抗治疗的X连锁低磷血症青少年在骨骼生长末期的生活体验:一项混合方法分析

Saraff, Vrinda; Sancho, Pedro Arango; Bacchetta, Justine; Boot, Annemieke M; Burren, Christine; Chinoy, Amish; Dharmaraj, Poonam; Llorente, Maria Amelia Gómez; Rodríguez, Juan David González; Gueorguieva, Iva; Davies, Elin Haf; Hayes, Wesley; Komarzynski, Sandra; Duro, Héctor Ríos; Rylands, Angela J; Sandilands, Kerry; Williams, Angela; Hardie, Emily; Ishii, Haruka; Schnabel, Dirk; Selveindran, Santhani M; Linglart, Agnès

Adolescents' experience of living with X-linked hypophosphataemia (XLH): a mixed-methods analysis of those who continued and discontinued burosumab treatment after end of skeletal growth

青少年罹患X连锁低磷血症(XLH)的经历:一项混合方法分析,研究对象为骨骼生长结束后继续和停止布罗索单抗治疗的患者。

Saraff, Vrinda; Arango-Sancho, Pedro; Bacchetta, Justine; Boot, Annemieke M; Burren, Christine P; Chinoy, Amish; Dharmaraj, Poonam; Gómez Llorente, Maria Amelia; González Rodríguez, Juan David; Gueorguieva, Iva; Hayes, Wesley; Schnabel, Dirk; Duro, Héctor Ríos; Davies, Elin Haf; Komarzynski, Sandra; Rylands, Angela J; Sandilands, Kerry; Ishii, Haruka; Williams, Angela; Selveindran, Santhani; Barlassina, Adele; Bowden, Annabel; Linglart, Agnès

Electrospinning of Well-Aligned P(VDF-TrFE) Fibers Using a Benign Solvent

利用良性溶剂静电纺丝制备取向良好的P(VDF-TrFE)纤维

Saraff, Shaashwat; Ghosh, Kalyan; Natarajan, Thiyagarajan; Lampronti, Giulio Isacco; Kar-Narayan, Sohini

Mobility and Quality of Life in Children with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement

阿司匹林α治疗儿童期起病的低磷酸血症患儿的活动能力和生活质量:英国管理准入协议的结果

Padidela, Raja; Bishop, Nick; Arundel, Paul; Fang, Shona; Zygouras, Alexandros; Mughal, M Zulf; Shaw, Nick; Saraff, Vrinda

A case of severe neonatal hypercalcaemia secondary to neonatal thyrotoxicosis

一例继发于新生儿甲状腺毒症的严重新生儿高钙血症病例

Law, James Matthew; Shaw, Nick; Saraff, Vrinda; Mohamed, Zainaba

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements

20号染色体短臂11.2区缺失导致FOXA2或其调控元件丢失,从而引起先天性高胰岛素血症。

Laver, Thomas W; Wakeling, Matthew N; Caswell, Richard C; Bunce, Benjamin; Yau, Daphne; Männistö, Jonna M E; Houghton, Jayne A L; Hopkins, Jasmin J; Weedon, Michael N; Saraff, Vrinda; Kershaw, Melanie; Honey, Engela M; Murphy, Nuala; Giri, Dinesh; Nath, Stuart; Tangari Saredo, Ana; Banerjee, Indraneel; Hussain, Khalid; Owens, Nick D L; Flanagan, Sarah E

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

SEC16B基因的双等位基因突变会改变胶原蛋白的运输并增加内质网应激。

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

Hypoglycaemia in adrenal insufficiency

肾上腺功能不全引起的低血糖

Lee, Shien Chen; Baranowski, Elizabeth S; Sakremath, Rajesh; Saraff, Vrinda; Mohamed, Zainaba

Diabetes control is worse in children and young people with type 1 diabetes requiring interpreter support

患有1型糖尿病的儿童和青少年血糖控制情况较差,需要口译支持。

Idkowiak, Jan; Uday, Suma; Elhag, Sabba; Barrett, Timothy; Dias, Renuka; Kershaw, Melanie; Mohamed, Zainaba; Saraff, Vrinda; Krone, Ruth E

SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis

LDS3中的SMAD3突变通过损害TGF-β通路并增强破骨细胞生成,导致骨骼脆弱。

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