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Mucopolysaccharidosis type IVB

Known as: MPS IVB, Morquio Syndrome, Type B, Mucopolysaccharidosis Type IV B 
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia… 
National Institutes of Health

Related topics

Related topics

21 relations
Autosomal recessive inheritanceCervical myelopathyGALNS geneGangliosidosis GM1

Broader (2)

MucopolysaccharidosesMucopolysaccharidosis IV

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.
Review
2013
Review
2013
Caracterización clínica, estudios genéticos, y manejo de la Mucopolisacaridosis tipo IV A
Background: mucopolysaccharidosis IV A (OMIM # 253000), belongs to the group of lysosomal storage diseases, this was first… 
2012
2012
β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.
A 5-year-old girl with clinical and biochemical phenotypes encompassing both GM1-gangliosidosis (GM1) and Morquio B disease (MBD… 
Highly Cited
2010
Highly Cited
2010
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.
2007
2007
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients Published, JLR Papers in Press, July 30, 2007.
GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by β-galactosidase deficiency attributable to… 
2002
2002
Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.
1993
1993
Assignment of human β-galactosidase-A gene to 3p21.33 by fluorescence in situ hybridization
GM1 gangliosidosis and Morquio syndrome type B (MPS IVB) are inherited lyosomal storage disorders associated with deficiency of… 
1983
1983
Morquio B syndrome: a primary defect in beta-galactosidase.
Fibroblasts from patients with Morquio B syndrome contain normal numbers of beta-galactosidase molecules with normal turnover but… 
1973
1973
Pattern of urinary acid mucopolysaccharide excretion in five patients with genetic mucopolysaccharidoses.
Qualitative and quantitative determinations of urinary acid mucopolysaccharides in five patients with Hurler, Morquio and Scheie… 
1961
1961
Morquio-Ullrich's disease
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