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Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.223-227

2021

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Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB

Molecular genetics and metabolism, 2021-06, Vol.133 (2), p.193-200

2021

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Evaluation of biomarkers for Sanfilippo syndrome

Molecular genetics and metabolism, 2019-09, Vol.128 (1-2), p.68-74

2019

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Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction

Clinical case reports, 2022-02, Vol.10 (2), p.e05277-n/a

2022

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Natural history of echocardiographic abnormalities in mucopolysaccharidosis III

Molecular genetics and metabolism, 2018-06, Vol.124 (2), p.131-134

2018

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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1405-1417

2021

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Expanding the spectrum of CEP55‐associated disease to viable phenotypes

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1201-1208

2020

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General anesthesia with a native airway for patients with mucopolysaccharidosis type III

Pediatric anesthesia, 2017-04, Vol.27 (4), p.370-376

2017

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Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy

Human gene therapy. Clinical development, 2017-12, Vol.28 (4), p.187

2017

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Interim results of Transpher A, a multicenter, single-dose clinical trial of UX111 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107101, Article 107101

2023

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eP203 - Updated results of Transpher A: multicenter, single-dose, phase 1/2 clinical trial of ABO-102 for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)

Molecular genetics and metabolism, 2021-04, Vol.132, p.S133-S134

2021

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Updated results of Transpher B: multicenter, single-dose, phase 1/2 clinical trial of ABO-101 for Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)

Molecular genetics and metabolism, 2021-04, Vol.132, p.S139

2021

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eP214 - Updated results of Transpher B: multicenter, single-dose, phase 1/2 clinical trial of ABO-101 for Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)

Molecular genetics and metabolism, 2021-04, Vol.132, p.S139-S139

2021

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Updated results of Transpher A: multicenter, single-dose, phase 1/2 clinical trial of ABO-102 for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)

Molecular genetics and metabolism, 2021-04, Vol.132, p.S133-S134

2021

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Interim results of Transpher A, a multicentre, single-dose, phase 1/2 clinical trial of ABO-102 investigational gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S43-S43

2022

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Safety, tolerability and preliminary evidence of biopotency in Transpher B, a multicenter, single-dose, phase 1/2 clinical trial of ABO-101 gene therapy for Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S107-S107

2020

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eP360 - Robust diagnostic yield and candidate gene discovery through paired exome analysis in vascular malformation and overgrowth

Molecular genetics and metabolism, 2021-04, Vol.132, p.S232-S232

2021

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Interim results of Transpher A, a multicenter, single-dose, phase 1/2 clinical trial of ABO-102 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S56-S57

2020

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eP420 - Evaluating the mutational spectrum of SIN3A alterations: a case series of patients profiled by next generation sequencing

Molecular genetics and metabolism, 2021-04, Vol.132, p.S271-S272

2021

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Evaluating the mutational spectrum of SIN3A alterations: a case series of patients profiled by next generation sequencing

Molecular genetics and metabolism, 2021-04, Vol.132, p.S271-S272

2021

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eP262 - Outcomes of in-house rapid genome sequencing at a Children’s Hospital

Molecular genetics and metabolism, 2021-04, Vol.132, p.S165-S166

2021

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Outcomes of in-house rapid genome sequencing at a Children’s Hospital

Molecular genetics and metabolism, 2021-04, Vol.132, p.S165-S166

2021

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Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers

JPGN reports, 2022-11, Vol.3 (4), p.e258-e258

2022

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Systemic gene transfer of scAAV9.U1a.hSGSH for MPS IIIA: tolerability and preliminary evidence for a biochemical effect

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S47-S47

2017

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Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?

Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB

Evaluation of biomarkers for Sanfilippo syndrome

Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction

Natural history of echocardiographic abnormalities in mucopolysaccharidosis III

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

Expanding the spectrum of CEP55‐associated disease to viable phenotypes

General anesthesia with a native airway for patients with mucopolysaccharidosis type III

Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy

Interim results of Transpher A, a multicenter, single-dose clinical trial of UX111 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)

eP203 - Updated results of Transpher A: multicenter, single-dose, phase 1/2 clinical trial of ABO-102 for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)

Updated results of Transpher B: multicenter, single-dose, phase 1/2 clinical trial of ABO-101 for Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)

eP214 - Updated results of Transpher B: multicenter, single-dose, phase 1/2 clinical trial of ABO-101 for Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)

Updated results of Transpher A: multicenter, single-dose, phase 1/2 clinical trial of ABO-102 for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)

Interim results of Transpher A, a multicentre, single-dose, phase 1/2 clinical trial of ABO-102 investigational gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)

Safety, tolerability and preliminary evidence of biopotency in Transpher B, a multicenter, single-dose, phase 1/2 clinical trial of ABO-101 gene therapy for Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)

eP360 - Robust diagnostic yield and candidate gene discovery through paired exome analysis in vascular malformation and overgrowth

Robust diagnostic yield and candidate gene discovery through paired exome analysis in vascular malformation and overgrowth

Interim results of Transpher A, a multicenter, single-dose, phase 1/2 clinical trial of ABO-102 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)

eP420 - Evaluating the mutational spectrum of SIN3A alterations: a case series of patients profiled by next generation sequencing

Evaluating the mutational spectrum of SIN3A alterations: a case series of patients profiled by next generation sequencing

eP262 - Outcomes of in-house rapid genome sequencing at a Children’s Hospital

Outcomes of in-house rapid genome sequencing at a Children’s Hospital

Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers

Systemic gene transfer of scAAV9.U1a.hSGSH for MPS IIIA: tolerability and preliminary evidence for a biochemical effect

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