Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). It has an estimated incidence of approximately 1 in 1,62,000 live male births. We report a case of Hunter syndrome diagnosed by an otorhinolaryngologist. To our knowledge, this is the first study diagnosed by an otorhinolaryngologist despite the fact that otorhinolaryngological symptoms manifest at a young age in this disease. The patient was a 4-year-old boy. He underwent adenotonsillectomy. Intubation was difficult, and he had some symptoms which are reasonable as a mucopolysaccharidosis. The otorhinolaryngologist should play an integral role in the multidisciplinary approach to the diagnosis and management of many child...
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage dise...
A 2-year-old boy presented with delayed speech, hydrocephalus, skeletal deformities, and right-sided...
BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storage dis...
Background. This clinical case of orphan disease can be interesting for its early diagnostics which ...
Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronat...
Hunter's Syndrome or mucopolysaccharidosis Type II is a rare metabolic disorder caused by the defici...
Hunter syndrome or mucopolysaccharidosis (MPS) type II is an X-linked recessive disorder caused by a...
Hunter syndrome, or mucopolysaccharidosis type II, is a rare X-linked disorder caused by a deficienc...
The mucopolysaccharidoses are a group of inherited disorders of lysosomal storage of glycosaminoglyc...
The article presents a rare case of type II mucopolysaccharidosis (MPs) in children. From the age of...
This review aims to provide clinicians in Latin America with the most current information on the cli...
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused ...
textabstractMucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive dis...
This review aims to provide clinicians in Latin America with the most current information on the cli...
I read with interest the article “Brain and Spinal MR ImagingFindings inMucopolysaccharidoses: ARevi...
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage dise...
A 2-year-old boy presented with delayed speech, hydrocephalus, skeletal deformities, and right-sided...
BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storage dis...
Background. This clinical case of orphan disease can be interesting for its early diagnostics which ...
Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronat...
Hunter's Syndrome or mucopolysaccharidosis Type II is a rare metabolic disorder caused by the defici...
Hunter syndrome or mucopolysaccharidosis (MPS) type II is an X-linked recessive disorder caused by a...
Hunter syndrome, or mucopolysaccharidosis type II, is a rare X-linked disorder caused by a deficienc...
The mucopolysaccharidoses are a group of inherited disorders of lysosomal storage of glycosaminoglyc...
The article presents a rare case of type II mucopolysaccharidosis (MPs) in children. From the age of...
This review aims to provide clinicians in Latin America with the most current information on the cli...
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused ...
textabstractMucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive dis...
This review aims to provide clinicians in Latin America with the most current information on the cli...
I read with interest the article “Brain and Spinal MR ImagingFindings inMucopolysaccharidoses: ARevi...
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage dise...
A 2-year-old boy presented with delayed speech, hydrocephalus, skeletal deformities, and right-sided...
BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storage dis...