Add to ORKGMucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly. With decreased iduronate-2-sulfatase activity and hemizygous mutation in the IDS gene, the diagnosis was MPS-II. Pebbling sign is a rare but pathognomonic sign of MPS-II
Mucopolysaccharidosis (MPS) type I and II are two closely related lysosomal storage diseases associa...
Hurler syndrome also known as mucopolysaccharidosis type 1H (MPS-1H) or gargoylism is an autosomal r...
BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storag...
Mucopolysaccharidoses (MPSs) are a class of lysosomal storage disorders resulting in progressive dis...
Hunter syndrome or mucopolysaccharidosis (MPS) type II is an X-linked recessive disorder caused by a...
Aim:Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosoma...
The article presents a rare case of type II mucopolysaccharidosis (MPs) in children. From the age of...
Mucopolysaccharidosis (MPS) is a rare genetic disorder caused by a deficiency in the activity of lys...
AbstractMucopolysaccharidosis I (MPS I) is a rare inherited disorder characterized by physical defor...
Hunter’s disease or mucopolysaccharidosis (MPS II) is a rare X-linked recessive disorder caused by d...
BACKGROUND AND OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder and...
BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storage dis...
<p>Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caus...
The mucopolysaccharidoses are a group of inherited disorders of lysosomal storage of glycosaminoglyc...
Two rare cases of mucopolysaccharidosis (MPS) I in children are presented. In the first case, the op...
Mucopolysaccharidosis (MPS) type I and II are two closely related lysosomal storage diseases associa...
Hurler syndrome also known as mucopolysaccharidosis type 1H (MPS-1H) or gargoylism is an autosomal r...
BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storag...
Mucopolysaccharidoses (MPSs) are a class of lysosomal storage disorders resulting in progressive dis...
Hunter syndrome or mucopolysaccharidosis (MPS) type II is an X-linked recessive disorder caused by a...
Aim:Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosoma...
The article presents a rare case of type II mucopolysaccharidosis (MPs) in children. From the age of...
Mucopolysaccharidosis (MPS) is a rare genetic disorder caused by a deficiency in the activity of lys...
AbstractMucopolysaccharidosis I (MPS I) is a rare inherited disorder characterized by physical defor...
Hunter’s disease or mucopolysaccharidosis (MPS II) is a rare X-linked recessive disorder caused by d...
BACKGROUND AND OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder and...
BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storage dis...
<p>Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caus...
The mucopolysaccharidoses are a group of inherited disorders of lysosomal storage of glycosaminoglyc...
Two rare cases of mucopolysaccharidosis (MPS) I in children are presented. In the first case, the op...
Mucopolysaccharidosis (MPS) type I and II are two closely related lysosomal storage diseases associa...
Hurler syndrome also known as mucopolysaccharidosis type 1H (MPS-1H) or gargoylism is an autosomal r...
BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storag...