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Laryngoscope, ISSN 0023-852X, 2019
We describe the diagnostic workup and surgical treatment of a patient presenting with the unique case of vertebral artery (VA) occlusion subsequent to head... 
laryngoplasty | vertebral artery compression | Bow Hunter syndrome | Vertebrobasilar stroke
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 07/2019
The outcome of 110 patients with paediatric onset mucopolysaccharidosis II (MPS II) since the commercial introduction of enzyme replacement therapy (ERT) in... 
Journal Article
Medicina Clinica, ISSN 0025-7753, 11/2013, Volume 141, Issue 10, pp. 453 - e13
The Hunter syndrome (HS), or mucopolysaccharidosis type II, is a disease caused by a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S) due to... 
Hunter syndrome | Enzyme replacement therapy | Mucopolysaccharidosis
Journal Article
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, ISSN 2212-4403, 07/2018, Volume 126, Issue 1, pp. e35 - e39
The objective of this study was to report the clinical evaluation results and 3-dimensional (3-D) dental and craniofacial characteristics observed in 2 male... 
ORAL MANIFESTATIONS | HUNTER-SYNDROME | VI | DENTISTRY, ORAL SURGERY & MEDICINE | CT imaging | Care and treatment | Mucopolysaccharidosis | Diagnosis
Journal Article
Journal of Paediatrics and Child Health, ISSN 1034-4810, 10/2017, Volume 53, Issue 10, pp. 1024 - 1024
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 08/2018, Volume 27, Issue R2, pp. R119 - R129
Abstract There is growing evidence that the complex clinical manifestations of lysosomal storage diseases (LSDs) are not fully explained by the engorgement of... 
DISEASE TYPE-C | SIGNAL-TRANSDUCTION | IMPAIRED AUTOPHAGY | NIEMANN-PICK C1 | HUNTER-SYNDROME | CHOLESTEROL ACCUMULATION | LIPID TRAFFICKING | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | MITOCHONDRIAL DYSFUNCTION | MUCOPOLYSACCHARIDOSIS TYPE-II
Journal Article
Journal of Indian Society of Pedodontics and Preventive Dentistry, ISSN 0970-4388, 2015, Volume 33, Issue 1, pp. 66 - 68
Hunter′s syndrome or mucopolysaccharidosis (MPS) type II is an X-linked recessive mucopolysaccharide disorder caused by a defect in the metabolism of... 
macroglossia | mucopolysaccharides | hunter syndrome | Epilepsy
Journal Article
Revista Cubana de Medicina Militar, ISSN 0138-6557, 01/2016, Volume 45, Issue 1
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 04/2019, Volume 491, pp. 114 - 120
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disorder resulting from the deficiency of the enzyme iduronate-2-sulfatase... 
Mucopolysaccharidosis type II | Functional characterization | Genetic analysis | Novel mutation | MUTATION ANALYSIS | DIAGNOSIS | PROTEIN | URINARY GLYCOSAMINOGLYCANS | IDENTIFICATION | IDURONATE-2-SULFATASE GENE | HUNTER-SYNDROME | DISEASE | MEDICAL LABORATORY TECHNOLOGY | Genetic research | Enzymes | Anopheles | Genetic aspects | Gene mutations | Analysis
Journal Article
International Journal of Clinical and Experimental Medicine, 02/2016, Volume 9, Issue 2, pp. 4843 - 4846
Journal Article