Lista de obras -

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

artículo científico publicado en 2012

Abnormalities of Cardiac Repolarization in Williams Syndrome ⬇️

artículo científico publicado el 11 de agosto de 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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado el 11 de enero de 2012

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

artículo científico publicado en 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

artículo científico publicado en 2002

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

artículo científico publicado en 2008

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

artículo científico publicado en 2004

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

Individualization of long-term enzyme replacement therapy for Gaucher disease

artículo científico publicado en 2005

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

artículo científico publicado en 2008

Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2003

Microduplications of 16p11.2 are associated with schizophrenia

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado el 26 de noviembre de 2010

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

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico

Revised recommendations for the management of Gaucher disease in children

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Sleep in children with Williams Syndrome

artículo científico publicado en 2011

Stenosis of the thoracic aorta in Williams syndrome

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 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.

artículo científico publicado en 2017

Lista de obras de

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.