Beta glucuronidase deficiency: Report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

Keyphrases

• Clinical Features 100%
• β-glucuronidase 100%
• Photosystem II 100%
• Spine 100%
• Radiological Features 100%
• Biochemical Features 100%
• Skull 50%
• Leukocytes 50%
• Proband 50%
• Intellectual Disability 50%
• Skin Fibroblasts 50%
• Biochemical Studies 50%
• Radiologic 50%
• Thorax 50%
• Pulmonary Infection 50%
• Lysosomal Acid Lipase 50%
• Radiological Assessment 50%
• Skeletal Deformities 50%
• Tubular Bone 50%
• Autosomal Recessive Inheritance 50%
• Heterozygous Carrier 50%
• Granular Inclusion 50%
• White Blood Cells 50%
• Storage Diseases 50%
• Mucopolysaccharides 50%
• Corneal Clouding 50%
• Enzyme Studies 50%
• Dysostosis multiplex 50%

Medicine and Dentistry

• Leukocyte 100%
• Mucopolysaccharidosis 100%
• Beta Glucuronidase 100%
• Clinical Feature 50%
• Glycosaminoglycan 50%
• Hydrolase 50%
• Chest 50%
• Hurler Syndrome 50%
• Storage Disease 50%
• Autosomal Recessive Inheritance 50%
• Lung Infection 50%
• Skeleton Malformation 50%
• Skin Fibroblast 50%
• Heterozygote 50%
• Rib 50%

Biochemistry, Genetics and Molecular Biology

• Enzyme 100%
• Leukocyte 100%
• Mucopolysaccharidosis 100%
• Beta-Glucuronidase 100%
• Proband 50%
• Hydrolase 50%
• Hurler Syndrome 50%
• Autosomal Recessive Inheritance 50%
• Genetic Carrier 50%
• Heterozygote 50%
• Glycosaminoglycan 50%
• Fibroblast 50%