Affiliation: The Children's Hospital of Philadelphia
- Revised recommendations for the management of Gaucher disease in childrenPaige Kaplan
Children s Hospital of Philadelphia, University of Pennsylvania, 9th Floor, Colket Translational Research Building, Civic Center Blvd, Philadelphia, PA 19104, USA
Eur J Pediatr 172:447-58. 2013..CONCLUSION: Early detection and treatment of symptomatic types 1 and 3 Gaucher disease with regular monitoring will optimize outcome. Pre-symptomatic children require regular monitoring. Genetic counseling is important...
- Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiencyPaige Kaplan
Section of Metabolism, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Mol Genet Metab 88:322-6. 2006..Liver replacement is not a cure for methylmalonic acidopathy...
- The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosisPaige Kaplan
Section of Metabolic Diseases, Department of Pediatrics, The Children s Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104, USA
Arch Pediatr Adolesc Med 160:603-8. 2006..To describe the clinical and demographic characteristics of nonneuronopathic Gaucher disease (GD) in children at the time of diagnosis...
- Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndromeR Thomas Collins
The Cardiac Center, The Children s Hospital of Philadelphia, 8th Floor, Main Building, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
J Pediatr 156:253-8.e1. 2010..To determine the prevalence of cardiovascular abnormalities (CVA) and outcomes in patients with Williams syndrome presenting before 1 year of age...
- Long-term outcomes of patients with cardiovascular abnormalities and williams syndromeR Thomas Collins
Division of Cardiology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Am J Cardiol 105:874-8. 2010..In patients with WS and CVAs, interventions are common and usually occur by 5 years of age. Most patients with WS do not require intervention during long-term follow-up, and the overall mortality has been low...
- A case report of rapid progressive coarctation and severe middle aortic syndrome in an infant with Williams syndromeE Kevin Hall
Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
Congenit Heart Dis 4:373-7. 2009..We report the case of a newborn infant who had a rapidly progressing diffuse form of arteriopathy that required two surgeries and one percutaneous balloon dilation within the first 2 months of her life...
- Stenosis of the thoracic aorta in Williams syndromeR Thomas Collins
Division of Cardiology, The Cardiac Center, The Children s Hospital of Philadelphia, 8th Floor, Main Building, 34th Street and Civic Center Blvd, Philadelphia, PA 19104, USA
Pediatr Cardiol 31:829-33. 2010..One patient died. STA is common in WS and is generally the long-segment type. In patients with STA, interventions are common and usually occur by 5 years of age. Reintervention for STA occurs frequently...
- Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopeniaAndres H Pena
Department of Radiology, The Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104 4399, USA
Pediatr Radiol 39:1006-9. 2009..Partial splenic embolization provides a minimally invasive alternative to splenectomy in patients with Gaucher disease with massive splenomegaly and bone marrow suppression...
- A disease severity scoring system for children with type 1 Gaucher diseaseStaci Kallish
Division of Genetics and Metabolism, Department of Pediatrics, Floating Hospital for Children at Tufts Medical Center, Boston, MA, USA
Eur J Pediatr 172:39-43. 2013..The PGS3 correlates well with disease severity in patients at diagnosis and over time...
- Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I RegistryKristin D'Aco
Section of Metabolic Diseases, Children s Hospital of Philadelphia, 3501 Civic Center Boulevard, Philadelphia, PA 19104, USA
Eur J Pediatr 171:911-9. 2012..Increased awareness of MPS I signs and symptoms by primary care providers and pediatric subspecialists is crucial to initiate early treatment and to improve the quality of life of MPS I patients...
- Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung diseaseMatthew G Sampson
Division of Pediatric Nephrology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Am J Med Genet A 152:2618-22. 2010..Our findings suggest that 16p11.2 deletions are associated with abnormalities of renal and enteric development and we hypothesize that deletion of SH2B1 may account for the observed phenotype...
- Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendationsJoel 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
- Prevalence of type 1 Gaucher disease in the United StatesNeal J Weinreb
Arch Intern Med 168:326-7; author reply 327-8. 2008
- Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher diseaseRichard J Wenstrup
Cincinnati Children s Hospital Research Foundation, Ohio, USA
J Bone Miner Res 22:119-26. 2007..Data were analyzed for 160 untreated patients and 342 ERT-treated patients. Imiglucerase significantly improves BMD in patients with GD, with 8 years of ERT leading to normal BMD...
- Individualization of long-term enzyme replacement therapy for Gaucher diseaseHans 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...
- Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patientsNeal 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...
- Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoringAntonio Baldellou
Unidad de Enfermedades Metabolicas, Hospital Infantil Miguel Servet, Po Isabel la Católica, 350009 Zaragoza, Spain
Eur J Pediatr 163:67-75. 2004..Monitoring must include regular psychosocial, functional status and quality-of-life evaluation, as well as consistent assessment of therapeutic goal attainment and necessary dosage adjustments based on the patient's progress...
- Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statementsGregory 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..In addition, different organs may respond differently to therapy. Initial assessment of each organ system can enable setting of realistic and individualized goals...
- 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 RegistryNeal 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...