Results 241 to 250 of about 59,618 (284)

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

Evaluating the Diagnostic Efficacy of Using Pooled Samples for Chronic Wasting Disease Testing and Surveillance. [PDF]

Pathogens
Hepker M, Zhang J, Anantharam V, Kanthasamy AG, Yuan J, Zou W, Ruden RM.   +6 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

RT-QuIC detection of chronic wasting disease prions in third eyelids from white-tailed deer. [PDF]

Sci Rep
Høy-Petersen J, Niedringhaus K, Henderson DM, Armstrong JP, Livengood J, Tewari D, Gagne RB, Gibison M.   +7 more
europepmc   +1 more source

Quantifying the Molecular Properties of the Elk Chronic Wasting Disease Agent with Mass Spectrometry. [PDF]

Pathogens
Silva CJ, Erickson-Beltran ML, Cassmann ED, Greenlee JJ.   +3 more
europepmc   +1 more source

Relationship Between Chronic Wasting Disease (CWD) Infection and Pregnancy Probability in Wild Female White-Tailed Deer (<i>Odocoileus virginianus</i>) in Northern Illinois, USA. [PDF]

Pathogens
Mori J, Rivera NA, Brown W, Skinner D, Schlichting P, Novakofski J, Mateus-Pinilla N.   +6 more
europepmc   +1 more source

Chronic Wasting Disease Research in North America: A systematic review highlighting species-wise and interdisciplinary research trends. [PDF]

Prion
Rg C, Tallon A, Latch EK.
europepmc   +1 more source

Relatedness of White-Tailed Deer from Culling Efforts Within Chronic Wasting Disease Management Zones in Minnesota. [PDF]

Pathogens
Fameli A, Jennelle C, Edson J, Hildebrand E, Carstensen M, Walter WD.   +5 more
europepmc   +1 more source

Chronic Wasting Disease [PDF]

Veterinary Pathology, 2005
Chronic wasting disease (CWD) is a unique transmissible spongiform encephalopathy (TSE) of mule deer ( Odocoileus hemionus), white-tailed deer ( O. virginianus), and Rocky Mountain elk ( Cervus elaphus nelsoni). The natural history of CWD is incompletely understood, but it differs from scrapie and bovine spongiform encephalopathy (BSE) by virtue of ...
Elizabeth S Williams
exaly   +3 more sources