Mucopolysaccharidosis Type VI, an updated overview of the disease

F D'Avanzo, A Zanetti, C De Filippis… - International Journal of …, 2021 - mdpi.com
Mucopolysaccharidosis type VI, or Maroteaux–Lamy syndrome, is a rare, autosomal
recessive genetic disease, mainly affecting the pediatric age group. The disease is due to …

Genetics and pathophysiology of mammalian sulfate biology

R Langford, E Hurrion, PA Dawson - Journal of Genetics and Genomics, 2017 - Elsevier
Nutrient sulfate is essential for numerous physiological functions in mammalian growth and
development. Accordingly, disruptions to any of the molecular processes that maintain the …

[图书][B] Breed predispositions to disease in dogs and cats

A Gough, A Thomas, D O'Neill - 2018 - books.google.com
Breed Predispositions to Disease in Dogs and Cats, Third Edition provides a comprehensive
exploration of current knowledge of breed predispositions based on rigorous examination of …

[HTML][HTML] Focus: Comparative Medicine: Canine and feline models of human genetic diseases and their contributions to advancing clinical therapies

BL Gurda, AM Bradbury, CH Vite - The Yale journal of biology and …, 2017 - ncbi.nlm.nih.gov
For many lethal or debilitating genetic disorders in patients there are no satisfactory
therapies. Several barriers exist that hinder the developments of effective therapies …

Rhodococcus equi Infections in Goats: Characterization of Virulence Plasmids

LW Stranahan, QD Plumlee, SD Lawhon… - Veterinary …, 2018 - journals.sagepub.com
Rhodococcus equi is an uncommon cause of systemic pyogranulomatous infections in goats
with macroscopic similarities to caseous lymphadenitis caused by Corynebacterium …

Dog as a model in studies on human hereditary diseases and their gene therapy

M Switonski - Reproductive biology, 2014 - Elsevier
During the last 15 years spectacular progress has been achieved in knowledge on the dog
genome organization and the molecular background of hereditary diseases in this species …

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants

V Cocostîrc, AI Paștiu, DL Pusta - Animals, 2023 - mdpi.com
Simple Summary This review explores various inherited neurological conditions found in
dogs, which can be present from birth or develop later in life. Researchers use two main …

Clinical, confocal, and morphological investigations on the cornea in human mucopolysaccharidosis IH-S

P Aragona, E Wylegala, E Wroblewska-Czajka… - Cornea, 2014 - journals.lww.com
Purpose: The aim was to describe the confocal and histological findings of 2 corneas from a
patient with an advanced case of type I mucopolysaccharidoses Hurler–Scheie disease …

DNA testing in neurologic diseases

DP O'Brien, T Leeb - Journal of veterinary internal medicine, 2014 - Wiley Online Library
DNA testing is available for a growing number of hereditary diseases in neurology and other
specialties. In addition to guiding breeding decisions, DNA tests are important tools in the …

An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs

K Raj, NM Ellinwood, U Giger - Scientific Reports, 2020 - nature.com
Abstract Mucopolysaccharidosis (MPS) IIIB (Sanfilippo syndrome B; OMIM 252920), is a
lysosomal storage disease with progressive neurological signs caused by deficient activity …