(Q48288095)

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The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.

scientific article published on 9 February 2013

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24 February 2020

The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects (English)

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24 February 2020

John J. Mitchell

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Rossella Parini

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24 February 2020

Chris Hendriksz

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24 February 2020

Roberto Giugliani

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Roberto Giugliani

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24 February 2020

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Paul Harmatz

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24 February 2020

Karl Eugen Mengel

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24 February 2020

Shuan-Pei Lin

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24 February 2020

Nathalie Guffon

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Barbara K Burton

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Ana Martins

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24 February 2020

Simon Jones

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24 February 2020

Norberto Guelbert

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24 February 2020

Ashok Vellodi

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24 February 2020

Carla Hollak

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24 February 2020

Peter Slasor

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24 February 2020

Celeste Decker

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24 February 2020

Vassili Valayannopoulos

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9 February 2013

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24 February 2020

Molecular Genetics and Metabolism

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24 February 2020

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24 February 2020

1

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54-61

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24 February 2020

Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses.

1 reference

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7 January 2021

The enzymic defects in Morquio and Maroteaux-Lamy syndrome

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7 January 2021

Impaired degradation of keratan sulphate by Morquio A fibroblasts

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7 January 2021

Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review

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7 January 2021

Heterogeneity of Morquio disease.

1 reference

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7 January 2021

Morquio syndrome: clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB.

1 reference

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7 January 2021

Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part I: Clinical and biochemical findings

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7 January 2021

Diagnosing mucopolysaccharidosis IVA

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7 January 2021

Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment

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7 January 2021

Growth charts for patients affected with Morquio A disease.

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7 January 2021

Upper airways abnormalities and tracheal problems in Morquio's disease

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7 January 2021

The lower extremity in Morquio syndrome.

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7 January 2021

Clinical, biochemical and molecular findings in a two-generation Morquio A family

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7 January 2021

Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples

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7 January 2021

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

1 reference

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7 January 2021

Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVB

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7 January 2021

Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome

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7 January 2021

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7 January 2021

Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-ac

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7 January 2021

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

1 reference

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7 January 2021

Validation of an LC-MS/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome

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7 January 2021

Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry

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7 January 2021

Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry

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7 January 2021

Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine

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7 January 2021

Abnormal Keratan Sulphate Excretion

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7 January 2021

International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.

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7 January 2021

The mucopolysaccharidoses: a clinical review and guide to management

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7 January 2021

Clinical utility of endurance measures for evaluation of treatment in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

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7 January 2021

Carbimazole and exercise tolerance in chronic airflow obstruction

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7 January 2021

Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, o

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7 January 2021

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

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Standard reference for the six-minute-walk test in healthy children aged 7 to 16 years.

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The 6-minute walk test: normal values for children of 4-11 years of age

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7 January 2021

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

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7 January 2021

Pulmonary function in Morquio's disease: A study of two siblings

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Respiratory complications of mucopolysaccharide storage disorders.

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Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

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Echocardiographic abnormalities in type IV mucopolysaccharidosis

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