Results 301 to 310 of about 2,772,382 (389)

Real-World Experiences with VMAT2 Inhibitors in Pediatric Hyperkinetic Movement Disorders. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Manohar S, Jacobe J, Berger R, Jankovic J, Hull M.   +4 more
europepmc   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Tracheal Complications Following Prolonged Invasive Ventilation in Tracheostomized Pediatric Patients with Complex Chronic Conditions. [PDF]

Children (Basel)
Vlajnic D, Wiesmann D, Ortmann J, Reuther M, Zernikow B.   +4 more
europepmc   +1 more source

Barriers to Transition From Pediatric to Adult Care: A Systematic Review

Journal of Pediatric Psychology, 2018
W. Gray, Megan R. Schaefer, Alana Resmini-Rawlinson, Scott T. Wagoner   +3 more
semanticscholar   +1 more source

The Impact of Allogeneic Hematopoietic Stem Cell Transplantation on Sickle Cell Retinopathy and Maculopathy: A Prospective, Observational Study

American Journal of Hematology, EarlyView.
Rajani P. Brandsen, Elisabeth Dovern, Bart J. Biemond, Roselie M. H. Diederen, Erfan Nur   +4 more
wiley   +1 more source

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai, Jenny Anne Downs, Helen Margaret Leonard, Laurence James Walsh, Sobia Zafar   +4 more
wiley   +1 more source

Analysis of the correlation between core competencies of pediatric nurses and occupational benefit perception and its influencing factors. [PDF]

Front Pediatr
Zhang H, Wang J, Li C, Liu X, Xiang Q.
europepmc   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Global burden of pediatric fracture (1992-2021) and projections of future disease burden trends. [PDF]

BMC Pediatr
Hu X, Lin X, Dai Z, Fang K.
europepmc   +1 more source

Dentofacial Malocclusion in Neurofibromatosis 1 in Finland

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold, Mikko Valtanen, Kari Auranen, Stina Syrjänen, Sirkku Peltonen, Juha Peltonen, Roope A. Kallionpää   +6 more
wiley   +1 more source