Gene therapy for glycogen storage diseases

DD Koeberl, RL Koch, JA Lim… - Journal of Inherited …, 2024 - Wiley Online Library
Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the
deficiency of individual enzymes involved in the synthesis, transport, and degradation of …

A review of equine muscle disorders

M Aleman - Neuromuscular disorders, 2008 - Elsevier
Muscle disorders are a common cause of disability in horses. For many years, clinical
manifestations such as muscle pain, exercise intolerance, weakness, and stiffness were …

[图书][B] Robinson's current therapy in equine medicine

KA Sprayberry, NE Robinson - 2014 - books.google.com
ALL-NEW topics provide updates on infectious diseases, including herpesvirus, equine
granulocytic anaplasmosis, and lawsonia infection and proliferative enteropathy; pain …

[图书][B] Large animal neurology

J Mayhew, R MacKay - 2022 - books.google.com
A comprehensive and authoritative guide to neurologic disease in large domestic animals,
world-wide. The newly revised Third Edition of Large Animal Neurology delivers a practical …

THY1 is a conserved marker of undifferentiated spermatogonia in the pre-pubertal bull testis

SC Reding, AL Stepnoski, EW Cloninger… - …, 2010 - rep.bioscientifica.com
The undifferentiated spermatogonial population consists of stem and progenitor germ cells
which function to provide the foundation for spermatogenesis. The stem cell component …

Genome-wide equine preimplantation genetic testing enabled by simultaneous haplotyping and copy number detection

T De Coster, Y Zhao, O Tšuiko, S Demyda-Peyrás… - Scientific Reports, 2024 - nature.com
In different species, embryonic aneuploidies and genome-wide errors are a major cause of
developmental failure. The increasing number of equine embryos being produced …

Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses

RC Tryon, MCT Penedo, ME McCue… - Journal of the …, 2009 - Am Vet Med Assoc
Objective—To estimate allele frequencies of the hyperkalaemic periodic paralysis (HYPP),
lethal white foal syndrome (LWFS), glycogen branching enzyme deficiency (GBED) …

Candidate lethal haplotypes and causal mutations in Angus cattle

JL Hoff, JE Decker, RD Schnabel, JF Taylor - BMC genomics, 2017 - Springer
Background If unmanaged, high rates of inbreeding in livestock populations adversely
impact their reproductive fitness. In beef cattle, historical selection strategies have increased …

Disorders of foals

HC McKenzie III - Equine internal medicine, 2017 - pmc.ncbi.nlm.nih.gov
PART 2 DISORDERS OF SPECIFIC BODY SYSTEMS 1366 the mare, the placenta, and the
fetus. Evaluation of the mare should include a thorough physical examination, paying …

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

J Wang, H Cui, NC Lee, WL Hwu, YH Chien… - Genetics in …, 2013 - nature.com
Purpose: Glycogen storage diseases are a group of inborn errors of glycogen synthesis or
catabolism. The outcome for untreated patients can be devastating. Given the genetic …