Results 41 to 50 of about 2,648 (201)

Characteristics of oral health of patients with X-linked hypophosphatemia: case reports and literature review

BDJ Open
Background Oral health is impaired in X-linked hypophosphatemia (XLH), resulting in delayed dental development, malocclusion, and radiographic abnormalities.
Ana Arhar, Alenka Pavlič, Luka Hočevar
doaj   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

Skrinar et al XLH Burden of Disease Survey Supplementary Materials

, 2019
Skrinar et al XLH Burden of Disease Survey Supplementary ...
Melita Dvorak-Ewell (243772), Ayla Evins (7850867), Erik A. Imel (7850873), Christina Theodore-Oklota (7850876), Dvorak-Ewell, Melita, Javier San Martin (7850879), Agnes Linglart (3422537), Evins, Ayla, Skrinar, Alison, Linglart, Agnes, Imel, Erik A., San Martin, Javier, Carolyn Macica (7850870), Theodore-Oklota, Christina, Macica, Carolyn, Alison Skrinar (3818242)   +15 more
core   +1 more source

X’E BAĞLI HİPOFOSFATEMİ (XLH) VE GENETİK KODLARI

Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2020
X’e bağlı hipofosfatemi (XLH, OMIM 307800) kalıtsal raşitizmin en sık gözlenen formudur ve X’e bağlı dominant bir kalıtım şekli gösterir. Hastalığın genetik temelini PHEX (Phosphate regulating gene with Homology to Endopeptidases on the X chromosome) genindeki fonksiyon kaybettirici mutasyonlar oluşturur. PHEX genindeki bu mutasyonlar, henüz bilinmeyen
openaire   +3 more sources

Burosumab - new potent treatment for X-linked hypophosphatemia and tumor-induced osteomalacia

Journal of Education, Health and Sport, 2023
Introduction and purpose: Elevated FGF23 in X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO) leads to systemic hypophosphatemia, several musculoskeletal manifestations and rickets in children. In this review we describe advances in
Magda Wojtuś, Sebastian Tomaszuk, Karolina Wąsik   +2 more
doaj   +1 more source

Democratising Multi‐Projector Displays

Computer Graphics Forum, EarlyView.
Spatially augmented reality (SAR) transforms large, surround, collaborative experiences out of VR/AR headsets to the real world by merging content from projectors with the physical environment. This detailed state‐of‐the‐art survey reports on the advancements in multi‐projector aggregation and hardware technologies used to achieve SAR and build ...
Aditi Majumder, Muhammad Twaha Ibrahim
wiley   +1 more source

SiGnature: Explicit Motion Diffusion for Stylized Semantic Gesture Generation

Computer Graphics Forum, EarlyView.
Abstract While recent advances in co‐speech gesture generation have achieved impressive rhythmic synchronization, synthesizing gestures that are both semantically meaningful and faithful to a speaker's unique non‐verbal style remains an open challenge.
Adi Rosenthal, Tomer Koren, Nadav Shaked, Doron Friedman, Ariel Shamir   +4 more
wiley   +1 more source

Survey on Compositional 3D Indoor Scene Generation

Computer Graphics Forum, EarlyView.
This survey provides a comprehensive overview of compositional 3D indoor scene generation, introducing a unified framework for categorizing existing methods, comparing their strengths and limitations and identifying key challenges and future research directions.
H. I. I. Tam, H. I. D. Pun, A. T. Wang, X. Sun, Q. Wu, H. Lee, A. X. Chang, M. Savva   +7 more
wiley   +1 more source

Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care

JBMR Plus, 2023
X‐linked hypophosphatemia (XLH) is a rare, inherited, multisystem disorder characterized by hypophosphatemia that occurs secondary to renal phosphate wasting.
Craig F Munns, Han‐Wook Yoo, Muhammad Yazid Jalaludin, Rashida Vasanwala, Manju Chandran, Yumie Rhee, Wai Man BUT, Alice Pik‐Shan Kong, Pen‐Hua Su, Nawaporn Numbenjapon, Noriyuki Namba, Yasuo Imanishi, Roderick J Clifton‐Bligh, Xiaoping Luo, Weibo Xia   +14 more
doaj   +1 more source

Complications and Treatments in Adult X-Linked Hypophosphatemia

Endocrines, 2022
X-linked hypophosphatemia (XLH) is a rare inherited disorder involving elevated levels of fibroblast growth factor (FGF) 23, and is caused by loss-of-function mutations in the PHEX gene. FGF23 induces renal phosphate wasting and suppresses the activation
Yasuo Imanishi, Tetsuo Shoji, Masanori Emoto   +2 more
doaj   +1 more source