Results 141 to 150 of about 102,616 (265)
Duodenal ulcer perforation presenting as acute appendicitis in a child: a case report and literature review. [PDF]
Jin Z +5 more
europepmc +1 more source
Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno +5 more
wiley +1 more source
A case of complete renal pedicle avulsion with deceptively stable hemodynamics: Critical diagnostic pitfall of misdiagnosis as ectopic kidney. [PDF]
Yang X, Zhu H, Hou X, Liu K.
europepmc +1 more source
ABSTRACT Seronegative myasthenia gravis (SNMG) is characterized by the absence of detectable autoantibodies against known MG targets, despite clinical and electrophysiological evidence of a postsynaptic neuromuscular junction disorder. The aim of this systematic review was to better define clinical features, diagnostic clues and treatment outcome of ...
Massimiliano Ugo Verza +6 more
wiley +1 more source
Initial clinical diagnosis of a pilar cyst revised to sebaceous carcinoma of the occipital scalp in a 36-year-old male: a case report. [PDF]
Li Y +5 more
europepmc +1 more source
Epilepsy: Global Trends and the Chinese Experience (1990–2021). The infographic depicts (left) the global distribution of age‐standardized epilepsy DALY rates; (center) the triple inequality gap within China, including regional mortality disparities (9‐fold difference between western and eastern provinces), urban‐rural treatment gaps (60%–90%), and ...
Ting Chen +7 more
wiley +1 more source
Transient Hyperattenuating Oral Pseudolesion Mimicking Sialolithiasis Incidentally Detected on Chest Computed Tomography. [PDF]
Tokue H, Tokue A, Tsushima Y.
europepmc +1 more source
Abstract Objective To evaluate differences in clinicopathological characteristics, treatment strategies, and oncological outcomes between preoperatively diagnosed and undiagnosed major salivary gland cancers (MSGCs). Study Design Retrospective cohort study. Setting A single tertiary academic hospital. Methods Surgically confirmed MSGCs between 2012 and
Dongbin Ahn +4 more
wiley +1 more source
Misdiagnosis of superior sulcus tumours: a scoping review. [PDF]
Wilkinson M +3 more
europepmc +1 more source

