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Publications by Renée Shediac

Spinal Involvement in Mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio a Syndrome): Presentation, Diagnosis and Management

Journal of Inherited Metabolic Disease

English

Related publications

Overcoming the Barriers to Diagnosis of Morquio a Syndrome

Orphanet Journal of Rare Diseases

English

Mucopolysaccharidosis Type IVA. N-Acetylgalactosamine-6-Sulfate Sulfatase Exonic Point Mutations in Classical Morquio and Mild Cases.

Journal of Clinical Investigation

English

Morquio Syndrome: A Case Report

English

Glaucoma in Siblings With Morquio Syndrome.

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay

Multidisciplinary

English

Current and Emerging Treatments and Surgical Interventions for Morquio a Syndrome: A Review

Research and Reports in Endocrine Disorders

English

Remote Spinal Cord Injury in Mucopolysaccharidosis Type IVA After Cervical Decompression

English

Identification and in Silico Analysis of GALNS Mutations Causing Morquio a Syndrome in Eight Consanguineous Families

Turkish Journal of Biology

Molecular Biology

Biological Sciences

English

Non-Invasive Pulmonary Function Test on Morquio Patients

Molecular Genetics and Metabolism

Molecular Biology

English