Lista de obras -

A 15-month-old boy with macrocephaly.

artículo científico publicado en 2006

A 4-year-old boy with fever. Achondroplasia.

artículo científico publicado en 2005

Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

artículo científico publicado en 2013

An 11-day-old boy with lethargy, poor feeding, vomiting. Maple syrup urine disease

artículo científico publicado en 2005

Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry

artículo científico publicado en 2013

Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.

artículo científico publicado en 2015

Ashkenazi Jewish genetic disorders

artículo científico publicado en 2004

Carrier screening in the era of expanding genetic technology.

artículo científico publicado en 2016

Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.

artículo científico publicado en 2014

Different colored eyes. Waardenburg syndrome

artículo científico publicado en 2007

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1.

artículo científico publicado en 2009

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

artículo científico publicado en 2002

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

artículo científico publicado en 2004

Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experience ⬇️

artículo científico publicado el 5 de enero de 2012

Gaucher disease and cancer incidence: a study from the Gaucher Registry.

artículo científico publicado en 2005

Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma

artículo científico publicado en 2014

Genetics professionals' opinions of whole-genome sequencing in the newborn period

artículo científico publicado en 2014

Growth Hormone Excess in Children with Neurofibromatosis Type 1-Associated and Sporadic Optic Pathway Tumors ⬇️

artículo científico publicado el 28 de octubre de 2010

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease

artículo científico publicado en 2005

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

artículo científico publicado en 2016

Individualization of long-term enzyme replacement therapy for Gaucher disease

artículo científico publicado en 2005

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

artículo científico publicado en 2012

Long-term treatment outcomes in Gaucher disease

artículo científico

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

artículo científico

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome

artículo científico publicado en 2017

Neurofibromatosis type 1 and high-grade tumors of the central nervous system

artículo científico publicado en 2009

Neurofibromatosis-1 in childhood.

artículo científico publicado en 2004

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

artículo científico publicado en 2012

Orbital optic nerve gliomas in children with neurofibromatosis type 1.

artículo científico publicado en 2006

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

artículo científico publicado en 2003

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements

artículo científico publicado en 2003

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells

artículo científico publicado en 2012

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

artículo científico publicado en 2016

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

artículo científico publicado en 2012

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry

artículo científico publicado en 2016

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

artículo científico publicado en 2014

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

artículo científico publicado en 2013

Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease.

artículo científico publicado en 2015

Storage and use of Newborn Screening Blood Specimens for Research: Assessing Public Opinion in Illinois

artículo científico publicado en 2014

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

artículo científico publicado en 2007

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

artículo científico publicado en 2015

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

artículo científico publicado en 2016

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

artículo científico publicado en 2017

Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis

artículo científico publicado en 2012

Vitamin B12 status, methylmalonic acidemia, and bacterial overgrowth in short bowel syndrome

artículo científico publicado en 2009

Lista de obras de

A 15-month-old boy with macrocephaly.

A 4-year-old boy with fever. Achondroplasia.

Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

An 11-day-old boy with lethargy, poor feeding, vomiting. Maple syrup urine disease

Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry

Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.

Ashkenazi Jewish genetic disorders

Carrier screening in the era of expanding genetic technology.

Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.

Different colored eyes. Waardenburg syndrome

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1.

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experience ⬇️

Gaucher disease and cancer incidence: a study from the Gaucher Registry.

Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma

Genetics professionals' opinions of whole-genome sequencing in the newborn period

Growth Hormone Excess in Children with Neurofibromatosis Type 1-Associated and Sporadic Optic Pathway Tumors ⬇️

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Individualization of long-term enzyme replacement therapy for Gaucher disease

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

Long-term treatment outcomes in Gaucher disease

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

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome

Neurofibromatosis type 1 and high-grade tumors of the central nervous system

Neurofibromatosis-1 in childhood.

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

Orbital optic nerve gliomas in children with neurofibromatosis type 1.

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease.

Storage and use of Newborn Screening Blood Specimens for Research: Assessing Public Opinion in Illinois

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis

Vitamin B12 status, methylmalonic acidemia, and bacterial overgrowth in short bowel syndrome