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..However, monitoring of asymptomatic children with affected siblings should be guided by the age and severity of manifestations in the first affected sibling. Treatment is necessary only if signs and symptoms develop...
- 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...
- 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...
- 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...
- 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...
- 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...
- Atypical glomerulopathy associated with the cblE inborn error of vitamin B₁₂ metabolismErin A Paul
Department of Pediatrics, Columbia Medical Center, 630 W 168th St, New York, NY 10032, USA
Pediatr Nephrol 28:1135-9. 2013..Previously, we reported a patient with cblC disease who had an atypical glomerulopathy that manifested with proteinuria and progressive renal insufficiency...
- 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..71 years, respectively). Among transplanted patients, an increasing proportion received hematopoietic stem cells from cord blood (34 out of 64 patients by 2009) and was also treated with laronidase (42 out of 45 patients by 2009)...
- 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
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...