Lista de obras -

A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II

artículo científico publicado en 2016

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation

artículo científico publicado en 2019

Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I

artículo científico publicado en 2019

Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome.

artículo científico publicado en 2018

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis

artículo científico publicado en 2019

Childhood Cerebral Adrenoleukodystrophy: MR Perfusion Measurements and Their Use in Predicting Clinical Outcome after Hematopoietic Stem Cell Transplantation.

artículo científico publicado en 2016

Childhood cerebral X-linked adrenoleukodystrophy: diffusion tensor imaging measurements for prediction of clinical outcome after hematopoietic stem cell transplantation.

artículo científico publicado en 2012

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation

scientific article published on 21 August 2019

Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome

artículo científico publicado en 2012

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

artículo científico publicado en 2019

Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study

scientific article published on 30 November 2019

Learning words and rules: abstract knowledge of word order in early sentence comprehension.

artículo científico publicado en 2006

Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome.

artículo científico publicado en 2017

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.

artículo científico publicado en 2018

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

artículo científico publicado en 2020

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

artículo científico publicado en 2015

Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy.

artículo científico publicado en 2017

Neurocognitive benchmarks following transplant for emerging cerebral adrenoleukodystrophy

artículo científico publicado en 2020

Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report

scientific article published on 17 May 2011

Systematic evaluation of Axis-I DSM diagnoses in delayed sleep phase disorder and evening-type circadian preference.

artículo científico publicado en 2012

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome

artículo científico publicado en 2019

Lista de obras de

A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation

Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I

Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome.

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis

Childhood Cerebral Adrenoleukodystrophy: MR Perfusion Measurements and Their Use in Predicting Clinical Outcome after Hematopoietic Stem Cell Transplantation.

Childhood cerebral X-linked adrenoleukodystrophy: diffusion tensor imaging measurements for prediction of clinical outcome after hematopoietic stem cell transplantation.

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation

Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study

Learning words and rules: abstract knowledge of word order in early sentence comprehension.

Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome.

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

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

Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy.

Neurocognitive benchmarks following transplant for emerging cerebral adrenoleukodystrophy

Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report

Systematic evaluation of Axis-I DSM diagnoses in delayed sleep phase disorder and evening-type circadian preference.

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome