Morquio B syndrome: a primary defect in beta-galactosidase.

No abstract is available for this paper.

• Publication year

  1983

• Venue

  American journal of medical genetics

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  PMID 6418007
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Morquio syndrome: Clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB

  2004cited by this paper
• Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

  1982cited by this paper
• Enhanced proteolytic degradation of normal beta-galactosidase in the lysosomal storage disease with combined beta-galactosidase and neuraminidase deficiency.

  1982cited by this paper
• Morquio disease, type B: activation of GM1-beta-galactosidase by GM1-activator protein.

  1982cited by this paper
• Correction of combined beta-galactosidase/neuraminidase deficiency in human fibroblasts.

  1981cited by this paper
• Urinary oligosaccharides of GM1-gangliosidosis. Structures of oligosaccharides excreted in the urine of type 1 but not in the urine of type 2 patients.

  1981cited by this paper
• Turnover of beta-galactosidase in fibroblasts from patients with genetically different types of beta-galactosidase deficiency.

  1981cited by this paper
• Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis.

  1980cited by this paper
• Morquio-like syndrome (MPS IV B) associated with deficiency of a beta-galactosidase.

  1980cited by this paper
• Specific inactivation of lysosomal glycosidases in living fibroblasts by the corresponding glycosylmethyl-p-nitrophenyltriazenes.

  1980cited by this paper
• Genetic heterogeneity in human neuraminidase deficiency

  1980cited by this paper
• Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

  1980cited by this paper
• Prenatal diagnosis of sialidosis with combined neuraminidase and ø‐galactosidase deficiency

  1979cited by this paper
• Adult type GMl-gangliosidosis: a complementation study on somatic cell hybrids.

  1979cited by this paper
• Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides.

  1979cited by this paper
• Sialidosis: a review of human neuraminidase deficiency.

  1979cited by this paper
• Affinity labelling with a deaminatively generated carbonium ion. Kinetics and stoicheiometry of the alkylation of methionine-500 of the lacZ beta-galactosidase of Escherichia coli by beta-D-galactopyranosylmethyl-p-nitrophenyltriazene.

  1978cited by this paper
• Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies.

  1978cited by this paper
• Beta galactosidase and the Morquio syndrome.

  1977cited by this paper
• beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature.

  1977cited by this paper
• Nature of the mutation in adult beta-galactosidase deficient patients.

  1977cited by this paper
• In situ detection of mycoplasma contamination in cell cultures by fluorescent Hoechst 33258 stain.

  1977cited by this paper
• Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.

  1977cited by this paper
• N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease.

  1976cited by this paper
• Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β‐galactosidase deficiency

  1976cited by this paper
• An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis.

  1975cited by this paper
• Molecular genetics of GM1 beta-galactosidase.

  1975cited by this paper
• Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography.

  1975cited by this paper
• Genetic heterogeneity in GM1-gangliosidosis

  1975cited by this paper
• Letter: Beta-galactosidase deficiency in young adults.

  1974cited by this paper
• Two-dimensional electrophoresis of urinary mucopolysaccharides on cellulose acetate after N-cetylpyridiniumchloride (CPC) precipitation: a method suitable for the routine laboratory.

  1974cited by this paper
• GM1 ganglioside beta-galactosidase. A. Purification and studies of the enzyme from human liver.

  1974cited by this paper
• Immunological studies of beta galactosidase in normal human liver and in GM1 gangliosidosis.

  1974cited by this paper
• Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase.

  1974cited by this paper
• GM1 gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observations on a third variant.

  1974cited by this paper
• Morquio's disease and mucopolysaccharide excretion.

  1970cited by this paper

• Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?

  2021cites this paper
• Facile and label-free fluorescence sensing of β-galactosidase activity by graphene quantum dots.

  2020cites this paper
• The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.

  2019cites this paper
• Metal-to-ligand charge-transfer: Applications to visual detection of β-galactosidase activity and sandwich immunoassay.

  2017cites this paper
• The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry

  2016cites this paper
• Improving the diagnosis and treatment of MPS I

  2015cites this paper
• A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

  2015cites this paper
• UvA-DARE ( Digital Academic Repository ) Improving the diagnosis and treatment of MPS

  2015cites this paper
• [Occipital-cervical instability in Morquio disease: a presentation of 2 cases and a review of the literature].

  2014cites this paper
• Upper cervical fusion in children with Morquio syndrome: intermediate to long-term results.

  2013cites this paper
• Morquio syndrome: diagnosis in an adult.

  2008cites this paper
• A molecular and histological characterization of cartilage from patients with Morquio syndrome.

  2007cites this paper
• Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.

  2007cites this paper
• Total hip arthroplasty in patients with dwarfism.

  2004cites this paper
• Morquio-B syndrome (MPS-IV B) associated with β-galactosidase deficiency in two siblings

  2002cites this paper
• Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B

  2001cites this paper
• Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.

  2000cites this paper
• Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.

  1999cites this paper
• Anaesthetic management of patients with mucopolysaccharidosis IV presenting for major orthopaedic surgery

  1999cites this paper
• Surfactant as modulating agent of enzyme-loaded liposome activity.

  1997cites this paper
• Gamut Index of Skeletal Dysplasias

  1995cites this paper
• Clinical and molecular analysis of a Japanese boy with Morquio B disease

  1995cites this paper
• Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1‐gangliosidosis

  1994cites this paper
• Molecular nosology of heritable disorders of connective tissue.

  1992cites this paper
• β-Galactosidase-deficient human fibroblasts: uptake and processing of the exogenous precursor enzyme expressed by stable transformant COS cells

  1990cites this paper
• Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A)

  1990cites this paper
• The lesions of an ovine lysosomal storage disease. Initial characterization.

  1989cites this paper
• A clinical biochemist's view of the investigation of suspected inherited metabolic disease

  1989cites this paper
• [Expression of human acid beta-galactosidase].

  1989cites this paper
• Central areolar choroidal dystrophy in a family with pseudoachondroplastic spondyloepiphyseal dysplasia.

  1988cites this paper
• Juvenile galactosialidosis in a white male: a new variant.

  1988cites this paper
• Progressive mental regression in siblings with Morquio disease Type B (mucopolysaccharidosis IV B)

  1987cites this paper
• Enzymatic diagnosis of sphingolipidoses.

  1987cites this paper
• Morquio's disease type B (beta-galactosidase deficiency) in three siblings.

  1987cites this paper
• The morbid anatomy of the human genome: a review of gene mapping in clinical medicine (2).

  1987cites this paper
• Glycosaminoglycan degradation.

  1987cites this paper
• Incorporation and degradation of GM1 ganglioside and asialoGM1 ganglioside in cultured fibroblasts from normal individuals and patients with beta-galactosidase deficiency.

  1986cites this paper
• Atypical adult GM1 gangliosidosis

  1986cites this paper
• Ganglioside GM1 metabolism in living human fibroblasts with beta-galactosidase deficiency.

  1986cites this paper
• Complementation analysis of beta-galactosidase deficiency by means of histochemical method.

  1985cites this paper
• Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form.

  1985cites this paper
• Combined sialidase (neuraminidase) and β‐galactosidase deficiency. Clinical, morphological and enzymological observations in a patient

  1984cites this paper