Results 1 to 10 of about 78 (61)
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.
PLoS ONE, 2015 IntroductionDiagnosis of the mucopolysaccharidoses (MPSs) generally relies on an initial analysis of total glycosaminoglycan (GAG) excretion in urine. Often the dimethylmethylene blue dye-binding (DMB) assay is used, although false-negative results have ...
Eveline J Langereis +10 more
doaj +6 more sources
Mucolipidoses Overview: Past, Present, and Future [PDF]
International Journal of Molecular Sciences, 2020 Mucolipidosis II and III (ML II/III) are caused by a deficiency of uridine-diphosphate N-acetylglucosamine: lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase, EC2.7.8.17), which tags lysosomal enzymes with a mannose 6-phosphate (M6P) marker for transport to the lysosome.
Saori Tomatsu
exaly +3 more sources
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses [PDF]
Molecular Genetics and Metabolism, 2017 Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently resulting in progressive damage to multiple tissues and organs.
Roberto Giugliani +2 more
exaly +3 more sources
Mucopolysaccharidoses and mucolipidoses [PDF]
Journal of Clinical Pathology, 1974 F van Hoof
exaly +6 more sources
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study
Journal of Pediatric Genetics, 2019 AbstractMucolipidoses (MLs) II and III are rare lysosomal diseases caused by deficiency of GlcNAc-1-phosphotransferase, and clinical manifestations are multisystemic. Clinical and demographic data from 1983 to 2013 were obtained retrospectively. Twenty-seven patients were included (ML II = 15, ML III α/beta = 9, ML III gamma = 3).
Dafne Horovitz +2 more
exaly +4 more sources
Orphanet Journal of Rare Diseases, 2021 Background Although the clinical efficacy of laminoplasty in adult cervical spondylotic myelopathy or ossification of posterior longitudinal ligament has been frequently reported, there are only few reports of laminoplasty for patients with lysosome ...
Hidetomi Terai +8 more
doaj +1 more source
JIMD Reports, 2023 We report a unique case of an infant with a severe dilated cardiomyopathy as the clinical presentation of sialidosis type II (OMIM 256550), a rare autosomal recessive inherited lysosomal storage disease that is characterized by partial or complete ...
Margot Eyskens +3 more
doaj +1 more source
Mucolipidose do tipo II: registro de dois casos sugestivos
Arquivos de Neuro-Psiquiatria, 1979 Foi feito estudo clínico e laboratorial de dois irmãos com manifestações clínicas semelhantes ao gargoilismo. Os exames de urina mostraram excreção normal de mucopolissacarideos. Linfócitos vacuolizados foram encontrados.
Pedro F. Moreira Filho +3 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2009 The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. Clinically,
Klintworth Gordon K
doaj +1 more source
Hyperglycopeptiduria in Genetic Mucolipidoses
The Tohoku Journal of Experimental Medicine, 1974 Urinary cetylpyridinium chloride (CPC)-precipitates and non-CPC-precipitates in normal male children and seven patients with a new type of mucolipidosis, GM1-gangliosidosis type 1, I-cell disease, Hurler syndrome, Morquio syndrome, Gaucher's disease adult type and Tay-Sachs disease were studied using several methods including Sephadex G-25 gel ...
ORII, TADAO +4 more
openaire +3 more sources