Three cats with feline arylsulfatase-B--deficient mucopolysaccharidosis were studied by light and transmission electron microscopy. Membrane-bound cytoplasmic inclusions were present in hepatocytes, bone marrow granulocytes, vascular smooth muscle cells, and fibroblasts in skin, cornea, and cardiac valves. Central nervous system lesions were restricted to mild ventricular dilatation, perithelia...

Haskins, M. E., Aguirre, G. D., Jezyk, P. F., Schuchman, E. H., Desnick, R. J., & Patterson, D. F. (1983). Animal model of human disease: Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog. American Journal of Pathology, 138(6), 1553–1555. PMCID: PMC1886403 Reproduced from Am J Pathol 1991, 138 (6): 1553–1555 with permission from the Ame...

1. a-L-Iduronidase activity was assayed by incubation of iduronosyl anhydro[ l-3H]mannitol 6-sulphate with homogenates of cultured skin fibroblasts, amniotic cells and leucocytes derived from normal individuals, patients affected with GLiduronidase deficiency disorder (mucopolysaccharidosis type I: Hurler, Scheie and Hurler-Scheie compound) and parents of such patients. 2. The assay for cc-L-id...

BACKGROUND Serum heparin cofactor II-thrombin complex (HCII-T) is an emerging biomarker for mucopolysaccharidosis disease (MPS I and MPS II). METHODS Seventeen cases (6 MPS I and 11 MPS II) and sixty healthy controls were enrolled in study, conducted from September 2008 to December 2012. The mean ± SD age of MPS1 (n=6, 5 males) and MPS II was 7.02 ± 3.25 and 5.2 ± 2.15 years, respectively. Di...

A simple method is described for measurement of urinary glycosaminoglycans (GAG) in normal and pathological urine: a fixed fraction of the 24-h urine is passed over a small plug of ECTEOLA-modified cellulose and the GAG are eluted with a few milliliters of NaCI solution (3 mol/liter) and measured as hexuronic acid. Because results are compared for equal aliquots of complete 24-h urines, GAG are...

BACKGROUND Airway management for patients with craniofacial abnormalities poses many challenges. It potentially has a high rate of morbidity and even mortality. METHODS We reviewed our experience in administering anesthesia to patients with a diagnosis of mucopolysaccharidosis or Pierre Robin sequence in the past 10 years (July 1998 to October 2008). The anesthetic procedures, methods of airw...

Mucopolysaccharidosis type IVA is a rare lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 6-sulfatase. Studies usually focus on skeletal abnormalities and their consequences. This study explores the neurological manifestations in a cohort of mucopolysaccharidosis type IVA patients, with a detailed focus on brain and spinal magnetic resonance imaging (MRI) findings. We p...

Background Treatment of tracheostenosis after tracheostomy in pediatric patients is often difficult. Mucopolysaccharidosis is a lysosomal storage disease that may induce obstruction of the airways. Case Presentation A 16-year-old male patient underwent long-term follow-up after postnatal diagnosis of type II mucopolysaccharidosis. At 11 years of age, tracheostomy was performed for mucopolysac...

Case presentation: 1: A boy with developmental delay and congenital macrocephaly, evolving dysphagia airway hypotonia. Complete exome sequencing was performed detection of pathogenic variant in the PTEN gene (c.737C>T). 2: Premature boy, delayed development departure, macrocephaly ephelides foreskin. He developed nodular hyperplasia ileum painful amplification syndrome pharmacoresistant pain. S...