نتایج جستجو برای: abetalipoproteinemia

تعداد نتایج: 433  

Journal: :The Brazilian journal of infectious diseases : an official publication of the Brazilian Society of Infectious Diseases 2013
Pankaj Baral Sanjiv Neupane Basudha Shrestha Kashi Ram Ghimire Bishnu Prasad Marasini Binod Lekhak

Limited information is available regarding AmpC β-lactamase (ABL)-producing Enterobacteriaceae compared to extended-spectrum β-lactamase-producing enterobacteria. Since ABL-producing organisms are often resistant to multiple antimicrobial agents, therapeutic options against these pathogens are limited. Among 230 clinical Enterobacteriaceae isolates, 64 (27.8%) were found to produce ABL in our s...

Journal: :Journal of Clinical Research in Pediatric Endocrinology 2020

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2010
Richard Z Haney Donna J Calu Yuji K Takahashi Brian W Hughes Geoffrey Schoenbaum

The amygdala is critical for associating predictive cues with primary rewarding and aversive outcomes. This is particularly evident in tasks in which information about expected outcomes is required for normal responding. Here we used a pavlovian overexpectation task to test whether outcome signaling by amygdala might also be necessary for changing those representations in the face of unexpected...

Journal: :Neuron 2002
Zachary Wills Mark Emerson Jannette Rusch Jay Bikoff Buzz Baum Norbert Perrimon David Van Vactor

We demonstrate that Drosophila capulet (capt), a homolog of the adenylyl cyclase-associated protein that binds and regulates actin in yeast, associates with Abl in Drosophila cells, suggesting a functional relationship in vivo. We find a robust and specific genetic interaction between capt and Abl at the midline choice point where the growth cone repellent Slit functions to restrict axon crossi...

2017
Roongroj Bhidayasiri Onanong Jitkritsadakul Ruth H. Walker

BACKGROUND Trunk flexion and axial extension are characteristic symptoms of chorea-acanthocytosis (ChAc). PHENOMENOLOGY SHOWN A 41-year-old male with ChAc (confirmed by VPS13A mutations) reported that his involuntary axial movements were significantly ameliorated by either folding his arms over his chest or putting his hands behind his head. EDUCATIONAL VALUE These apparent "sensory tricks"...

Journal: :The Turkish journal of pediatrics 2010
Nuray Uslu Figen Gürakan Aysel Yüce Hülya Demir Patrizia Tarugi

Abetalipoproteinemia (ABL) is a rare autosomal disorder characterized by extremely low levels of plasma lipids and apolipoprotein B (apoB) with a variable phenotype. Mutations in the MTP gene encoding the microsomal triglyceride transfer protein (MTP) cause the disease. A five-month-old boy, born from consanguineous parents, with chronic diarrhea and severe malnutrition had extremely low plasma...

Journal: :Swiss medical weekly 2010
Alberto Foglia

Acanthocytes are a distinct structural (and functional) entity compared to echinocytes. The differential, however, is not always clear. A summary of morphologic characteristic to make a clear distinction is provided, using the blood of a rare neurologic disease with acanthocytic transformation of red blood cells.

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