Results 171 to 180 of about 190,630 (312)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

United States Coast Guard Report CG-D-60-77

, 1977
: The prototype airborne oil surveillance system (AOSS I) developed for the U.S. Coast Guard by Aerojet ElectroSystems under Contract DOT-CG-22170A was modified and transferred from a HU-16 aircraft to a HC-130B aircraft.
Bommarito, J. J., Edgerton, A. T., Meeks, D. C., Schwantje, R. S.   +3 more
core  

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Development and Evaluation of a Quadrant Silicon Pad Sensor for the TexAT Active Target Detector. [PDF]

Sensors (Basel)
Gu GM, Chae KY, Hwang JW, Hahn KI, Jeon JA, Kim MB, Ahn S, Lee HY.   +7 more
europepmc   +1 more source

Transportation Systems Center/U.S. Coast Guard L-Band Maritime Satellite Test Program : Test Summary: September - November 1974

CG509/R5003Several L-band satellite communications tests with the NASA ATS-6 spacecraft and the U.S. Coast Guard Cutter SHERMAN are described. The tests included 1200 bit per second digital data, voice, simultaneous data and voice, ranging, multipath and
Kraemer, J. H., Engels, P. D., Foley, A. E., Mauro, P.G., Duncombe, Christopher B., John A. Volpe National Transportation Systems Center (U.S.)   +5 more
core  

The chloroplast cysteine synthase complex in guard cells is critical for stress-induced stomatal closure. [PDF]

Plant Physiol
Sun SK, Hell R, Wirtz M.
europepmc   +1 more source

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga, Jacey L. Anderberg, Ana M. Ramirez‐Diaz, Andrea Horvath Marques, Catherine E. Rast, Daniel Bustamante, Deborah Jonker, Johanna Valencia‐Echeverry, Joseph Kyebuzibwa, Josselyn S. Muñoz, Kristien van der Walt, Mauricio Castaño Ramirez, Olivia Wootton, Renee M. Frederick, Rocky E. Stroud II, Ruben Gur, Sang Jin Rhee, Shaili C. Jha, Stella Gichuru, Susan Service, Victor I. Reus, Akena Dickens, Carlos Lopez‐Jaramillo, Carrie E. Bearden, Dan J. Stein, Ezra S. Susser, James J. Crowley, Jonathan Flint, Kenneth S. Kendler, Lukoye Atwoli, Michele T. Pato, Nelson B. Freimer, Roel A. Ophoff, Yong Min Ahn, Loes Olde Loohuis, Eric A. Storch, Bizu Gelaye   +36 more
wiley   +1 more source

Correction: Impact of maternal hypothyroidism on human milk macronutrient content and fatty acid composition: a prospective cohort study. [PDF]

Front Nutr
Alodhaybi S, Binobaed MA, AlAnazi RH, Elwehedy N, Baraja M, Aljawoan FY, Tamimi W, Elamin LM, Madkhali A.   +8 more
europepmc   +1 more source

Lysyl Oxidase Reduces Neutrophil Extravasation in Response to P. aeruginosa in an Infection‐on‐a‐Chip Model

Advanced NanoBiomed Research, EarlyView.
Lysyl oxidase crosslinking of type I collagen decreases neutrophil extravasation through an endothelium during the initial response to P. aeruginosa. This decrease in extravasation is likely due to the increase in VE‐cadherin expression between endothelial cells seeded on LOX‐crosslinked collagen hydrogels.
Christopher J. Calo, Tanvi Patil, Josephine Fouts, Eric L. Ginter, Margaret Radke, Hannah K. Weppner, Justin M. Owens, Laurel E. Hind   +7 more
wiley   +1 more source

Deployment Requirements for U.S. Coast Guard Pollution Response Equipment: Volume I. Analysis

This report presents the results of a study to examine the siting and equipment requirements that would have to be met by the U.S. Coast Guard to provide an adequate response within six hours for spills of up to 10,000 tons (28,000,000 gals.) of oil in U.
O'Brien, A., Jr., Garlitz, J., Bellantoni, Juan F., Kodis, Ralph D., Passera, Anthony, John A. Volpe National Transportation Systems Center (U.S.)   +5 more
core