List of works - Paige Kaplan

A disease severity scoring system for children with type 1 Gaucher disease.

scientific article published on 20 September 2012

Abnormalities of Cardiac Repolarization in Williams Syndrome ⬇️

scientific article published on August 11, 2010

Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome

scientific article published on 21 October 2009

Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss

scientific article

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases

scientific article published on 03 June 2008

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

scholarly preprint article

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

scientific article

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry ⬇️

scientific article published on January 11, 2012

Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease

scientific article published on 01 January 2007

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

Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1.

scientific article published in December 2008

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

scientific article published on January 2004

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

scientific article

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

scientific article

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

scientific article

Individualization of long-term enzyme replacement therapy for Gaucher disease

scientific article

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

scientific article published on 19 June 2008

Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis

scientific article published on 8 February 2016

Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

scientific article (publication date: August 2006)

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

scientific article published on 23 May 2008

Long-term outcomes of patients with cardiovascular abnormalities and williams syndrome

scientific article published on March 2010

MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation

scientific article

Microduplications of 16p11.2 are associated with schizophrenia

scientific article

Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis

scientific article published on November 2003

Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults ⬇️

scientific article published on November 26, 2010

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

scientific article published on 16 December 2003

Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia

scientific article

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

scientific article

Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children.

scientific article published on 31 October 2008

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

scientific article

Relation of ventricular ectopic complexes to QTc interval on ambulatory electrocardiograms in Williams syndrome.

scientific article published on 28 March 2012

Revised recommendations for the management of Gaucher disease in children

scientific article

Short-Term Safety of Zoledronic Acid in Young Patients With Bone Disorders: An Extensive Institutional Experience.

scientific article

Sleep in children with Williams Syndrome

scientific article published on 21 September 2011

Stenosis of the thoracic aorta in Williams syndrome

scientific article published on 22 April 2010

The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis

scientific article

The female Gaucher patient: the impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause).

scientific article published on 06 June 2009

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

List of works by Paige Kaplan

A disease severity scoring system for children with type 1 Gaucher disease.

Abnormalities of Cardiac Repolarization in Williams Syndrome ⬇️

Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome

Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry ⬇️

Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease

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

Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1.

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

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Individualization of long-term enzyme replacement therapy for Gaucher disease

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis

Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

Long-term outcomes of patients with cardiovascular abnormalities and williams syndrome

MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation

Microduplications of 16p11.2 are associated with schizophrenia

Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis

Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults ⬇️

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

Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia

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

Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children.

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

Relation of ventricular ectopic complexes to QTc interval on ambulatory electrocardiograms in Williams syndrome.

Revised recommendations for the management of Gaucher disease in children

Short-Term Safety of Zoledronic Acid in Young Patients With Bone Disorders: An Extensive Institutional Experience.

Sleep in children with Williams Syndrome

Stenosis of the thoracic aorta in Williams syndrome

The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis

The female Gaucher patient: the impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause).

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.