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Publications by Debra Regier

Role of Elosulfase Alfa in Mucopolysaccharidosis IVA

The Application of Clinical Genetics
Genetics
2016English

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AB036. Cardiac Features in Taiwanese Patients With Mucopolysaccharidosis IVA

Annals of Translational Medicine
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2017English

Remote Spinal Cord Injury in Mucopolysaccharidosis Type IVA After Cervical Decompression

Neurology
Neurology
2014English

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

Journal of Inherited Metabolic Disease
Genetics
2013English

In Silico Analysis of Mutations Occurring in the Protein N-Acetylgalactosamine-6-Sulfatase (GALNS) and Causing Mucopolysaccharidosis IVA

Genetics and Molecular Research
MedicineGeneticsMolecular Biology
2014English

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

Journal of Clinical Investigation
Medicine
1992English

(497) Iva

English

Family Reflections: MPS IVA

Pediatric Research
Child HealthPediatricsPerinatology
2018English

Pathogenesis of Lumbar Spine Disease in Mucopolysaccharidosis VII

Molecular Genetics and Metabolism
GeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2012English

Mucopolysaccharidosis Type 7

2020English

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