List of works - Joel Charrow

A 15-month-old boy with macrocephaly.

scientific article published in January 2006

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

scientific article

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.

scientific article

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

scientific article

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

scientific article

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

scientific article

Ashkenazi Jewish genetic disorders

scientific article

Carrier screening in the era of expanding genetic technology.

scientific article published on 7 April 2016

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

scientific article

Different colored eyes. Waardenburg syndrome

scientific article published in May 2007

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

scientific article published on February 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

scientific article

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

scientific article published on January 2004

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

scientific article (publication date: 5 January 2012)

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

scientific article published on 17 February 2005

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

scientific article published on 14 May 2014

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

scientific article published on 28 October 2014

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

scientific article published on October 28, 2010

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

scientific article

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

scientific article

Individualization of long-term enzyme replacement therapy for Gaucher disease

scientific article

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

scientific article

Long-term treatment outcomes in Gaucher disease

scientific article published on July 2015

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

scientific article published on June 2015

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

scientific article published on 22 March 2017

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

scientific article

Neurofibromatosis-1 in childhood.

scientific article

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

scientific article published on 17 September 2012

Orbital optic nerve gliomas in children with neurofibromatosis type 1.

scientific article published on December 2006

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

scientific article published on 16 December 2003

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

scientific article

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 ⬇️

scientific article published on January 28, 2012

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

scientific article

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

scientific article published on 22 September 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

scientific article

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

scientific article published on 19 December 2014

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

scientific article published on 22 January 2013

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

scientific article published in July 2015

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

scientific article published on 20 November 2014

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

scientific article

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

scientific article published on 20 March 2015

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

scientific article

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.

scientific article published on 31 May 2017

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

scientific article

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

scientific article published in April 2009

List of works by Joel Charrow

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