Results 111 to 120 of about 53,000 (243)

Rheumatologic manifestations in children with underlying inborn errors of immunity. [PDF]

BMC Rheumatol
Saeidi Z, Fadai S, Mesdaghi M, Mirzaee AZ, Sharafian S, Rahmani K, Eslami N, Parvaneh VJ, Talebi M, Chavoshzadeh Z, Shiari R.   +10 more
europepmc   +1 more source

Identifying Common Disease Trajectories of Progressive Supranuclear Palsy with Electronic Health Records

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder characterized by parkinsonism and impairments in balance, language, and cognition. As an atypical parkinsonism, PSP progresses rapidly, lacks effective treatments, and poses significant caregiving burdens. While prior studies have identified risk factors, they
Mingzhou Fu, Sriram Sankararaman, Keith A Vossel, Timothy S. Chang   +3 more
wiley   +1 more source

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 more
europepmc   +1 more source

Amyloidosis in Human Inborn Errors of Immunity Predicts Poor Prognosis. [PDF]

J Clin Immunol
Aytekin ES, Tagiyev A, Silleli O, Samur İ, Demirel F, Esenboğa S, Sağlam EA, Çağdaş D.   +7 more
europepmc   +1 more source

Deep learning framework for interpretable quality control of echocardiography video

Medical Physics, EarlyView.
Abstract Background Echocardiography (echo) has become an indispensable tool in modern cardiology, offering real‐time imaging that helps clinicians evaluate heart function and identify abnormalities. Despite these advantages, the acquisition of high‐quality echo is time‐consuming, labor‐intensive, and highly subjective.
Liwei Du, Wufeng Xue, Zhanru Qi, Zhongqing Shi, Guanjun Guo, Xin Yang, Dong Ni, Jing Yao   +7 more
wiley   +1 more source

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism. [PDF]

JIMD Rep
Selvanathan A, Nazir S, van Wyk K, Simpson E, Holmes V, Hutton R, White F, Schwahn BC.   +7 more
europepmc   +1 more source

Function of the Normal Neuromuscular Junction in Young Children

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims The repetitive nerve stimulation (RNS) test is fundamental to test the functional integrity of the neuromuscular junction. RNS data are scarce for newborns and young children, limiting early diagnostic efforts to identify children with neuromuscular diseases. Here, we performed RNS in young children.
Márk Kozák, Katalin Szatmári, Erzsébet Németh, Béla Fülesdi, Attila Nagy, Attila Tóth, Judit Boczán   +6 more
wiley   +1 more source

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors. [PDF]

J Inherit Metab Dis
Lamari F, Rossignol F, Mitchell GA.
europepmc   +1 more source

J Inborn Errors Metab Screen [PDF]

CC999999/ImCDC/Intramural CDC HHS/United States2017-05-08T00:00 ...

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The Effect of Mother's Gentle Human Touch on Preterm Neonate's Pain and Maternal Anxiety During Venipuncture in Turkiye

Research in Nursing &Health, EarlyView.
ABSTRACT Pain in neonates causes many negative effects, such as decreased oxygenation, deterioration in hemodynamics, and increased intracranial pressure. Mothers may experience anxiety while observing the infant experiencing pain. The aim of this study was to determine the effect of gentle human touch (GHT), applied by mothers, on the infant's ...
Derya Kılınç, Seda Çağlar
wiley   +1 more source