J Charrow

Summary

Affiliation: Northwestern University
Country: USA

Publications

  1. ncbi Enzyme replacement therapy for Gaucher disease
    Joel Charrow
    Children s Memorial Hospital, Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois 60614, USA
    Expert Opin Biol Ther 9:121-31. 2009
  2. ncbi A 3 year old with obesity and hypotonia. Prader-Willi syndrome
    Joel Charrow
    Division of Genetics, Birth Defects, and the Genetics Laboratory, Childrens's Memeorial Hospital, Chicago, IL 60614, USA
    Pediatr Ann 36:284-6. 2007
  3. ncbi Different colored eyes. Waardenburg syndrome
    Joel Charrow
    Division of Genetics, Birth Defects, and Metabolism and the Genetics Laboratory at Children's Memorial Hospital, Chicago, IL 60614, USA
    Pediatr Ann 36:277-8. 2007
  4. ncbi Missing fingers and toes. Amnion rupture sequence
    Joel Charrow
    Division of Genetics, Birth Defects, and Metabolism and the Genetics Laboratory, Children's Memorial Hospital, Chicago, IL 60614, USA
    Pediatr Ann 36:269-70. 2007
  5. ncbi A newborn with multiple congenital anomalies. Trisomy 18
    Joel Charrow
    Division of Genetics, Birth Defects, and Metabolism and the Genetics Laboratory, Children's Memorial Hospital, Chicago, IL 60614, USA
    Pediatr Ann 36:263-4. 2007
  6. ncbi The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease
    J Charrow
    Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
    Clin Genet 71:205-11. 2007
  7. ncbi Ashkenazi Jewish genetic disorders
    Joel Charrow
    Department of Pediatrics, Feinberg School of Medicine, Northwestern University, no 59, 2300 Children s Plaza, Illinois 60614, USA
    Fam Cancer 3:201-6. 2004
  8. ncbi Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
    Joel Charrow
    Division of Genetics, Children's Memorial Hospital and the Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60614, USA
    J Pediatr 144:112-20. 2004
  9. ncbi Gaucher disease: recommendations on diagnosis, evaluation, and monitoring
    J Charrow
    Department of Pediatrics, Children s Memorial Hospital and Northwestern University Medical School, Chicago, Ill 60614, USA
    Arch Intern Med 158:1754-60. 1998
  10. ncbi The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease
    J Charrow
    Section of Clinical Genetics, Children s Memorial Hospital 59, 2300 Children s Plaza, Chicago, IL 60614, USA
    Arch Intern Med 160:2835-43. 2000

Collaborators

Detail Information

Publications35

  1. ncbi Enzyme replacement therapy for Gaucher disease
    Joel Charrow
    Children s Memorial Hospital, Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois 60614, USA
    Expert Opin Biol Ther 9:121-31. 2009
    ..Furthermore, they have served as a model for the treatment of other lysosomal storage diseases and inborn errors of metabolism...
  2. ncbi A 3 year old with obesity and hypotonia. Prader-Willi syndrome
    Joel Charrow
    Division of Genetics, Birth Defects, and the Genetics Laboratory, Childrens's Memeorial Hospital, Chicago, IL 60614, USA
    Pediatr Ann 36:284-6. 2007
  3. ncbi Different colored eyes. Waardenburg syndrome
    Joel Charrow
    Division of Genetics, Birth Defects, and Metabolism and the Genetics Laboratory at Children's Memorial Hospital, Chicago, IL 60614, USA
    Pediatr Ann 36:277-8. 2007
  4. ncbi Missing fingers and toes. Amnion rupture sequence
    Joel Charrow
    Division of Genetics, Birth Defects, and Metabolism and the Genetics Laboratory, Children's Memorial Hospital, Chicago, IL 60614, USA
    Pediatr Ann 36:269-70. 2007
  5. ncbi A newborn with multiple congenital anomalies. Trisomy 18
    Joel Charrow
    Division of Genetics, Birth Defects, and Metabolism and the Genetics Laboratory, Children's Memorial Hospital, Chicago, IL 60614, USA
    Pediatr Ann 36:263-4. 2007
  6. ncbi The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease
    J Charrow
    Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
    Clin Genet 71:205-11. 2007
    ..This study shows that significant improvements in symptoms of skeletal disease are achievable clinical outcomes and treatment goals in GD type 1...
  7. ncbi Ashkenazi Jewish genetic disorders
    Joel Charrow
    Department of Pediatrics, Feinberg School of Medicine, Northwestern University, no 59, 2300 Children s Plaza, Illinois 60614, USA
    Fam Cancer 3:201-6. 2004
    ..The importance of genetic counseling in both the pre- and post-test phases of population screening is emphasized...
  8. ncbi Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
    Joel Charrow
    Division of Genetics, Children's Memorial Hospital and the Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60614, USA
    J Pediatr 144:112-20. 2004
  9. ncbi Gaucher disease: recommendations on diagnosis, evaluation, and monitoring
    J Charrow
    Department of Pediatrics, Children s Memorial Hospital and Northwestern University Medical School, Chicago, Ill 60614, USA
    Arch Intern Med 158:1754-60. 1998
    ....
  10. ncbi The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease
    J Charrow
    Section of Clinical Genetics, Children s Memorial Hospital 59, 2300 Children s Plaza, Chicago, IL 60614, USA
    Arch Intern Med 160:2835-43. 2000
    ..This report describes the demographic and clinical characteristics of 1698 patients with GD before they received enzyme replacement therapy...
  11. ncbi Late-onset optic pathway tumors in children with neurofibromatosis 1
    R Listernick
    Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
    Neurology 63:1944-6. 2004
    ..Continued monitoring of individuals with NF1 into adulthood for the development of OPTs and for progression of known OPTs is warranted...
  12. ncbi Knowledge and attitudes toward a free education and Ashkenazi Jewish carrier testing program
    G Hegwer
    Center for Genetic Medicine and Graduate Program in Genetic Counseling, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611, USA
    J Genet Couns 15:61-70. 2006
    ..05). In conclusion, this study demonstrated that an educational carrier screening program increased knowledge about the disorders and also produced mild anxiety regarding personal and reproductive risks...
  13. ncbi Carboplatin therapy for optic pathway tumors in children with neurofibromatosis type-1
    R Listernick
    Department of Pediatrics, Northwestern University Medical School, Chicago, IL, USA
    J Neurooncol 45:185-90. 1999
    ..However, as disease stabilization of NF-1 associated OPT often occurs following clinical presentation, the clinician should document tumor progression or visual deterioration prior to the institution of therapy...
  14. ncbi Gaucher disease and cancer incidence: a study from the Gaucher Registry
    Barry E Rosenbloom
    Tower Hematology Oncology Medical Group, Beverly Hills, CA 90211, USA
    Blood 105:4569-72. 2005
    ..However, there appears to be a significantly higher risk of multiple myeloma of which physicians should be aware when caring for these patients...
  15. ncbi Individualization of long-term enzyme replacement therapy for Gaucher disease
    Hans C Andersson
    Human Genetics Program, Hayward Genetics Center, Tulane University Medical School, New Orleans, Louisiana, USA
    Genet Med 7:105-10. 2005
    ..In this review, we present recommendations for initial imiglucerase treatment and subsequent dose adjustments based on a schedule of regular assessment and monitoring, and achievement and maintenance of defined therapeutic goals...
  16. ncbi 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
    Neal J Weinreb
    Department of Medicine, University Hospital, Tamarac, Florida 33321, USA
    Am J Med 113:112-9. 2002
    ..Previous studies in relatively small numbers of patients demonstrated short-term efficacy of this treatment. This study describes the effects of 2 to 5 years of treatment on specific manifestations of type 1 Gaucher disease...
  17. ncbi Orbital optic nerve gliomas in children with neurofibromatosis type 1
    Janice Lasky Zeid
    Division of Ophthalmology, Children s Memorial Hospital, Chicago, Illinois 60614, USA
    J AAPOS 10:534-9. 2006
    ..To describe the clinical course and treatment of symptomatic orbital optic nerve gliomas in children with neurofibromatosis type-1 (NF-1)...
  18. ncbi Segmental neurofibromatosis in childhood
    Robert Listernick
    Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60614, USA
    Am J Med Genet A 121:132-5. 2003
    ..Accurate diagnosis of segmental NF-1 is crucial for both management and genetic counseling...
  19. ncbi Knowledge without truth: screening for complications of neurofibromatosis type 1 in childhood
    Robert Listernick
    Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA
    Am J Med Genet A 127:221-3. 2004
  20. ncbi A newborn girl with hypotonia and respiratory failure
    Joel Charrow
    Pediatr Ann 36:777, 781-2. 2007
  21. ncbi Prevalence of type 1 Gaucher disease in the United States
    Neal J Weinreb
    Arch Intern Med 168:326-7; author reply 327-8. 2008
  22. ncbi Neuroimaging findings in children with rare or novel de novo chromosomal anomalies
    Leon G Epstein
    Northwestern University s Feinberg School of Medicine, Department of Pediatrics, Chicago, Illinois 60611, USA
    Birth Defects Res A Clin Mol Teratol 82:200-10. 2008
    ..Moreover, many clinical genetic reports do not include neuroimaging...
  23. ncbi Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating
    Marian Kroos
    Departments of Clinical Genetics and Pediatrics, Erasmus MC, Rotterdam, The Netherlands
    Hum Mutat 29:E13-26. 2008
    ..Further, this article introduces a tool to rate the various mutations by severity, which will improve understanding of the genotype-phenotype correlation and facilitate the diagnosis and prognosis in Pompe disease...
  24. ncbi Case challenges in genetics
    Joel Charrow
    Pediatr Ann 36:252-3. 2007
  25. ncbi Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
    Dominique P Germain
    Assistance Publique Hopitaux de Paris, Paris, France
    J Am Soc Nephrol 18:1547-57. 2007
    ..Long-term agalsidase beta therapy stabilizes renal function in patients without renal involvement at baseline, maintains reduction of plasma GL-3, and sustains GL-3 clearance in capillary endothelial cells and multiple renal cell types...
  26. ncbi Optic pathway gliomas in neurofibromatosis type 1: the effect of presenting symptoms on outcome
    Allison King
    Division of Pediatric Hematology and Oncology, St. Louis Children's Hospital, St. Louis, Missouri 63110, USA
    Am J Med Genet A 122:95-9. 2003
    ..Based on these findings, we do not advocate "baseline" MRI in children with NF1, but strongly recommend that all children of the age 10 years and younger with NF1 have complete annual ophthalmologic evaluations...
  27. ncbi Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients
    Neal J Weinreb
    University Research Foundation for Lysosomal Storage Diseases, Department of Medicine, University Hospital, Tamarac, FL, USA
    Semin Hematol 41:15-22. 2004
    ..Additionally, reassessment should be performed whenever enzyme therapy dose is altered, or in case of significant clinical complication...
  28. ncbi Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring
    Antonio Baldellou
    Unidad de Enfermedades Metabolicas, Hospital Infantil Miguel Servet, Po Isabel la Católica, 350009 Zaragoza, Spain
    Eur J Pediatr 163:67-75. 2004
    ..CONCLUSION: Through comprehensive and serial monitoring, ultimately, a therapeutic dose of enzyme therapy that achieves sustained benefits can be found for each child with non-neuronpathic Gaucher disease...
  29. ncbi Neurofibromatosis-1 in childhood
    Robert Listernick
    Department of Pediatrics, Feinberg School of Medicine, Northwestern University Chicago, Illinois, USA
    Adv Dermatol 20:75-115. 2004
  30. ncbi Guidance on the use of miglustat for treating patients with type 1 Gaucher disease
    Neal J Weinreb
    University Research Foundation for Lysosomal Storage Diseases and Northwest Oncology Hematology Associates PA, Coral Springs, Florida
    Am J Hematol 80:223-9. 2005
    ....
  31. ncbi Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements
    Gregory A Grabowski
    Division and Program in Human Genetics, Children s Hospital Research Foundation, Cincinnati, OH 45229 3039, USA
    Eur J Pediatr 163:58-66. 2004
    ..CONCLUSION: A thorough approach to baseline assessment will improve the understanding of childhood Gaucher disease, optimizing management to minimize impairment of growth and development and prevent irreversible symptoms...
  32. ncbi A 15-month-old boy with macrocephaly
    Joel Charrow
    Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
    Pediatr Ann 35:18, 21. 2006
  33. ncbi An 11-year-old girl with multiple hyperpigmented macules
    Joel Charrow
    Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
    Pediatr Ann 35:325, 328. 2006
  34. ncbi Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency
    Devin Oglesbee
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Genet Med 9:108-16. 2007
    ..To delineate the correct diagnosis, we have developed a follow-up algorithm for abnormal C4-acylcarnitine newborn screening results based on the comparison of biomarkers for both conditions...
  35. ncbi An 11-day-old boy with lethargy, poor feeding, vomiting. Maple syrup urine disease
    Joel Charrow
    Feinberg School of Medicine, Northwestern University, Children's Memorial Hospital, Chicago, IL, USA
    Pediatr Ann 34:772-4. 2005