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Initial experience from a renal genetics clinic demonstrates a distinct role in patient management

Genetics in medicine, 2020-06, Vol.22 (6), p.1025-1035

2020

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A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease

Kidney international, 2022-07, Vol.102 (1), p.173-182

2022

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Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management

Genetics in medicine, 2021-10, Vol.23 (10), p.2017-2019

2021

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P033: Cardiac manifestations of Fabry disease: Insights from a clinic population through cardiac magnetic resonance imaging

Genetics in Medicine Open, 2024, Vol.2, p.100910, Article 100910

2024

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Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase

PloS one, 2015-08, Vol.10 (8), p.e0134341-e0134341

2015

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P006: Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in Fabry disease: 2-Year interim results from BRIGHT51

Genetics in Medicine Open, 2023, Vol.1 (1), p.100016, Article 100016

2023

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P005: Head-to-head trial of pegunigalsidase alfa vs agalsidase beta in Fabry disease: Phase 3 randomized, double-blind, BALANCE Study 2-year results

Genetics in Medicine Open, 2023, Vol.1 (1), p.100015, Article 100015

2023

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Fabry disease presentation in a heterozygote female patient

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S123-S123

2018

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Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trial

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.534-544

2019

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The impact of newborn screening for lysosomal disorders in a non-screening adjacent state

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S97-S97

2019

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Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease

Genetics in medicine, 2023-12, Vol.25 (12), p.100968, Article 100968

2023

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Globotriaosylceramide (GL3) accumulation in Fabry podocytes in female patients is progressive with age and associated with podocyte loss and proteinuria

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S87-S88

2022

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Late development of oculomotor apraxia in a male adolescent with Gaucher disease

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S91-S91

2018

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The impact of Fabry disease on reproductive fitness

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S70-S70

2016

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Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

Journal of medical genetics, 2024-06, Vol.61 (6), p.520-530

2024

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Exponential increase in neutralizing and spike specific antibodies following vaccination of COVID‐19 convalescent plasma donors

Transfusion (Philadelphia, Pa.), 2021-07, Vol.61 (7), p.2099-2106

2021

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eP148: Long-term safety and efficacy of pegunigalsidase alfa: A multicenter extension study in adult patients with Fabry disease

Genetics in medicine, 2022-03, Vol.24 (3), p.S91-S91

2022

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Long-term safety and efficacy of pegunigalsidase alfa: A multicenter extension study in adult patients with Fabry disease

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S58-S58

2022

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Reduction of Globotriaosylceramide Inclusions in Renal Peritubular Capillaries in Patients with Fabry Disease Following Treatment with Pegunigalsidase Alfa: PO1938

Journal of the American Society of Nephrology, 2021-10, Vol.32 (10S), p.595-595

2021

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Detection of three families with GLA p.A143T mutation and low α-galactosidase levels by newborn screening for Fabry disease

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S91-S91

2017

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A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies

Journal of inherited metabolic disease, 2024-10

2024

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eP149: Safety and efficacy of pegunigalsidase alfa, every 4 weeks, in Fabry disease: Results from the phase 3, open-label, BRIGHT study

Genetics in medicine, 2022-03, Vol.24 (3), p.S91-S92

2022

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Pegunigalsidase Alfa, PEGylated α-Galactosidase-A Enzyme in Development for the Treatment of Fabry Disease, Shows a Correlation Between Renal Gb3 Inclusion Clearance and Reduction of Plasma Lyso-Gb3: PO0561

Journal of the American Society of Nephrology, 2020-10, Vol.31 (10S), p.221-221

2020

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Initial symptom presentation in young pediatric patients with classic pathogenic variants in the gene: Data from the Fabry MOPPet study

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S71

2022

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Initial symptom presentation in young pediatric patients with classic pathogenic variants in the GLA gene: Data from the Fabry MOPPet study

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S71-S71

2022

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Initial experience from a renal genetics clinic demonstrates a distinct role in patient management

A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease

Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management

P033: Cardiac manifestations of Fabry disease: Insights from a clinic population through cardiac magnetic resonance imaging

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase

P006: Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in Fabry disease: 2-Year interim results from BRIGHT51

P005: Head-to-head trial of pegunigalsidase alfa vs agalsidase beta in Fabry disease: Phase 3 randomized, double-blind, BALANCE Study 2-year results

Fabry disease presentation in a heterozygote female patient

Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trial

The impact of newborn screening for lysosomal disorders in a non-screening adjacent state

Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease

Globotriaosylceramide (GL3) accumulation in Fabry podocytes in female patients is progressive with age and associated with podocyte loss and proteinuria

Late development of oculomotor apraxia in a male adolescent with Gaucher disease

The impact of Fabry disease on reproductive fitness

Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

Exponential increase in neutralizing and spike specific antibodies following vaccination of COVID‐19 convalescent plasma donors

eP148: Long-term safety and efficacy of pegunigalsidase alfa: A multicenter extension study in adult patients with Fabry disease

Long-term safety and efficacy of pegunigalsidase alfa: A multicenter extension study in adult patients with Fabry disease

Reduction of Globotriaosylceramide Inclusions in Renal Peritubular Capillaries in Patients with Fabry Disease Following Treatment with Pegunigalsidase Alfa: PO1938

Detection of three families with GLA p.A143T mutation and low α-galactosidase levels by newborn screening for Fabry disease

A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies

eP149: Safety and efficacy of pegunigalsidase alfa, every 4 weeks, in Fabry disease: Results from the phase 3, open-label, BRIGHT study

Pegunigalsidase Alfa, PEGylated α-Galactosidase-A Enzyme in Development for the Treatment of Fabry Disease, Shows a Correlation Between Renal Gb3 Inclusion Clearance and Reduction of Plasma Lyso-Gb3: PO0561

Initial symptom presentation in young pediatric patients with classic pathogenic variants in the gene: Data from the Fabry MOPPet study

Initial symptom presentation in young pediatric patients with classic pathogenic variants in the GLA gene: Data from the Fabry MOPPet study

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