Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
Reversible Enzymatic Switching of the Oxidation State of a Eu<sup>III/II</sup> Complex Controls Relaxivity. [PDF]
Sarson ET +7 more
europepmc +1 more source
The Highest Oxidation State of Rhodium: Rhodium(VII) in [RhO3 ]. [PDF]
da Silva Santos M +9 more
europepmc +1 more source
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Steering Pt Cluster Dimensionality via the Surface Oxidation State of CeO<sub>2</sub>(111) Thin Films. [PDF]
Reich J +7 more
europepmc +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Covalent Bonding Between Ir and High-Oxidation State Sb Constrained by Quinoline Scaffolds. [PDF]
Kong F +7 more
europepmc +1 more source
Stability of Coumarins and Determination of the Net Iron Oxidation State of Iron-Coumarin Complexes: Implications for Examining Plant Iron Acquisition Mechanisms. [PDF]
Kang K +3 more
europepmc +1 more source
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Oxidation states of IrOx characterised by EELS and ED-PDF [PDF]
Tran Trung-Dung, Ozkaya Dogan
doaj +1 more source

