Results 101 to 110 of about 142,528 (291)
Peroxisomal Disorders Diagnosis
Pediatric Neurology Briefs, 1998 The clinical manifestations of 27 patients affected with peroxisomal disorders and seen between 1982 and 1997 are described from the Hopital Necker-Enfants Malades, Paris, and other centers.
J Gordon Millichap
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
The Arabidopsis cer26 mutant, like the cer2 mutant, is specifically affected in the very long chain fatty acid elongation process [PDF]
, 2013 Plant aerial organs are covered by cuticular waxes, which form a hydrophobic crystal layer that mainly serves as a waterproof barrier. Cuticular wax is a complex mixture of very long chain lipids deriving from fatty acids, predominantly of chain lengths ...
Domergue, Frédéric +19 more
core +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Multibranched Polyunsaturated and Very-Long-Chain Fatty Acids of Freshwater Israeli Sponges
, 2016 Very-long-chain and multibranched polyunsaturated fatty acids of three freshwater sponges, Ephydatia syriaca, Nudospongilla sp., and Cortispongilla barroisi, were studied by silver TLC, GC−MS, UV, IR, HRMS, and NMR methods.
Tomáš Řezanka (712015) +1 more
core +1 more source
Molecular and functional characterisation of two elovl4 elongases involved in the biosynthesis of very long-chain (>C24) polyunsaturated fatty acids in black seabream Acanthopagrus schlegelii [PDF]
, 2017 Elongation of very long-chain fatty acid (Elovl) 4 proteins are important fatty acyl elongases that participate in the biosynthesis of long-chain (C20-24) and very long-chain (˃C24) polyunsaturated fatty acids (LC-PUFA and VLC-PUFA, respectively) in ...
Qi-Cun Zhou +12 more
core +1 more source
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Biosynthesis of long-chain polyunsaturated fatty acids in the African catfish Clarias gariepinus: Molecular cloning and functional characterisation of fatty acyl desaturase (fads2) and elongase (elovl2) cDNAs7 [PDF]
, 2016 Fish differ in their capacity for endogenous synthesis of long-chain (C20-24) polyunsaturated fatty acids (LC-PUFA) from dietary C18 precursors (α-linolenic and linoleic acids).
Tocher, Douglas R +3 more
core +1 more source
Laser‐Induced Graphene from Waste Almond Shells
Advanced Functional Materials, EarlyView.Almond shells, an abundant agricultural by‐product, are repurposed to create a fully bioderived almond shell/chitosan composite (ASC) degradable in soil. ASC is converted into laser‐induced graphene (LIG) by laser scribing and proposed as a substrate for transient electronics.
Yulia Steksova +9 more
wiley +1 more source
, 2011 The n-3 PUFA are a unique class of fatty acids that cannot be manufactured by the body, and must be acquired via dietary sources. In the UK, as well as in other Western nations, these 'essential' fatty acids are consumed in quantities that fall below ...
Jackson, Philippa A. +14 more
core +1 more source