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Prolonged confusional state as first manifestation of COVID‐19

Annals of clinical and translational neurology, 2020-08, Vol.7 (8), p.1450-1452

2020

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Consensus clinical management guidelines for Niemann-Pick disease type C

Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.50-50, Article 50

2018

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SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

Human mutation, 2016-02, Vol.37 (2), p.139-147

2016

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REWIND Diabetes for Octogenarians

The journal of clinical endocrinology and metabolism, 2021-07, Vol.106 (7), p.e2811-e2812

Geberhiwot, Tarekegn

2021

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Cardiac Phenotype of Prehypertrophic Fabry Disease

Circulation. Cardiovascular imaging, 2018-06, Vol.11 (6), p.e007168-e007168

2018

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Myocardial Storage, Inflammation, and Cardiac Phenotype in Fabry Disease After One Year of Enzyme Replacement Therapy

Circulation. Cardiovascular imaging, 2019-12, Vol.12 (12), p.e009430-e009430

2019

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Consensus clinical management guidelines for Alström syndrome

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.253-253, Article 253

2020

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Lung function and breathing patterns in hospitalised COVID-19 survivors: a review of post-COVID-19 Clinics

Respiratory research, 2021-09, Vol.22 (1), p.255-255, Article 255

2021

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Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)

Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.85-85, Article 85

2023

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The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage

European heart journal cardiovascular imaging, 2020-06, Vol.22 (7), p.790-799

2020

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Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study

Orphanet journal of rare diseases, 2023-10, Vol.18 (1), p.1-332, Article 332

2023

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In-depth phenotyping for clinical stratification of Gaucher disease

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.431-431, Article 431

2021

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Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

Orphanet journal of rare diseases, 2017-03, Vol.12 (1), p.52-52, Article 52

2017

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Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.38-38, Article 38

2021

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Defining renal phenotype in Alström syndrome

Nephrology, dialysis, transplantation, 2020-06, Vol.35 (6), p.994-1001

2020

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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.51-51, Article 51

2022

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Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy

Orphanet journal of rare diseases, 2022-01, Vol.17 (1), p.6-6, Article 6

2022

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Multi-Modality Cardiovascular Imaging Assessment in Fabry Disease

Applied sciences, 2022-02, Vol.12 (3), p.1605

2022

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Prospective cardiovascular magnetic resonance imaging in adults with Alström syndrome: silent progression of diffuse interstitial fibrosis

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-139, Article 139

2020

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A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Orphanet journal of rare diseases, 2017-08, Vol.12 (1), p.144-144, Article 144

2017

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Acute Confusion as an Initial Presentation of SARS-CoV-2 Infection

Journal of Clinical Neurology, 2021, 17(3), , pp.363-367

2021

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Atherosclerosis in Fabry Disease—A Contemporary Review

Journal of clinical medicine, 2021-09, Vol.10 (19), p.4422

2021

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Systematic review of the incidence and clinical risk predictors of atrial fibrillation and permanent pacemaker implantation for bradycardia in Fabry disease

Open heart, 2023-07, Vol.10 (2), p.e002316

2023

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Phenoage and longitudinal changes on transthoracic echocardiography in Alström syndrome: a disease of accelerated ageing?

GeroScience, 2024-04, Vol.46 (2), p.1989-1999

2024

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Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial

BMC endocrine disorders, 2018-11, Vol.18 (1), p.88-88, Article 88

2018

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Prolonged confusional state as first manifestation of COVID‐19

Consensus clinical management guidelines for Niemann-Pick disease type C

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

REWIND Diabetes for Octogenarians

Cardiac Phenotype of Prehypertrophic Fabry Disease

Myocardial Storage, Inflammation, and Cardiac Phenotype in Fabry Disease After One Year of Enzyme Replacement Therapy

Consensus clinical management guidelines for Alström syndrome

Lung function and breathing patterns in hospitalised COVID-19 survivors: a review of post-COVID-19 Clinics

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)

The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage

Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study

In-depth phenotyping for clinical stratification of Gaucher disease

Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England

Defining renal phenotype in Alström syndrome

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy

Multi-Modality Cardiovascular Imaging Assessment in Fabry Disease

Prospective cardiovascular magnetic resonance imaging in adults with Alström syndrome: silent progression of diffuse interstitial fibrosis

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Acute Confusion as an Initial Presentation of SARS-CoV-2 Infection

Atherosclerosis in Fabry Disease—A Contemporary Review

Systematic review of the incidence and clinical risk predictors of atrial fibrillation and permanent pacemaker implantation for bradycardia in Fabry disease

Phenoage and longitudinal changes on transthoracic echocardiography in Alström syndrome: a disease of accelerated ageing?

Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial

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