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Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.

  • Read more about Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

  • Read more about The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.

  • Read more about Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.

Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.

  • Read more about Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.

Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.

  • Read more about Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

  • Read more about Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

  • Read more about Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.

  • Read more about Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.

  • Read more about Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.

  • Read more about Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.

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