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Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

Molecular genetics and metabolism, 2015-09, Vol.116 (1-2), p.88-97

2015

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Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

Orphanet journal of rare diseases, 2023-12, Vol.18 (1), p.1-378, Article 378

2023

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Pompe disease in infants: improving the prognosis by newborn screening and early treatment

Pediatrics (Evanston), 2009-12, Vol.124 (6), p.e1116-e1125

2009

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Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening

The Journal of pediatrics, 2011-06, Vol.158 (6), p.1023-1027.e1

2011

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Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease

Laboratory investigation, 2006-12, Vol.86 (12), p.1208-1220

2006

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Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial

PloS one, 2015-05, Vol.10 (5), p.e0124987-e0124987

2015

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CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria

Scientific reports, 2021-03, Vol.11 (1), p.7254-7254, Article 7254

2021

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Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

Kidney international, 2002-12, Vol.62 (6), p.1933-1946

2002

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Endosialin Protein Expression and Therapeutic Target Potential in Human Solid Tumors: Sarcoma versus Carcinoma

Clinical cancer research, 2008-11, Vol.14 (22), p.7223-7236

2008

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Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature

Human pathology, 2012-04, Vol.43 (4), p.610-614

2012

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The Laboratory Mouse: A Guide to the Location and Orientation of Tissues for Optimal Histological Evaluation

1, 2019

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Myostatin and insulin-like growth factor I: potential therapeutic biomarkers for pompe disease

PloS one, 2013-08, Vol.8 (8), p.e71900-e71900

2013

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Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report

Molecular genetics and metabolism reports, 2020-09, Vol.24, p.100626, Article 100626

Thurberg, Beth L.

2020

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Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered

Molecular genetics and metabolism, 2011-08, Vol.103 (4), p.362-366

2011

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Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues

Molecular genetics and metabolism, 2022-12, Vol.137 (4), p.328-341

2022

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A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

Genetics in medicine, 2022-07, Vol.24 (7), p.1425-1436

2022

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Characterization of a canine model of glycogen storage disease type IIIa

Disease models & mechanisms, 2012-11, Vol.5 (6), p.804-811

2012

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Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment

Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.245-252

2020

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Monitoring the 3-Year Efficacy of Enzyme Replacement Therapy in Fabry Disease by Repeated Skin Biopsies

Journal of investigative dermatology, 2004-04, Vol.122 (4), p.900-908

2004

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Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.106963-106963, Article 106963

2023

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Optimization of a Histopathological Biomarker for Sphingomyelin Accumulation in Acid Sphingomyelinase Deficiency

The journal of histochemistry and cytochemistry, 2012-08, Vol.60 (8), p.620-629

2012

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Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease

Pediatric neurology, 2012-03, Vol.46 (3), p.168-171

2012

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Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingomyelinase deficiency)

Genetics in medicine, 2016-01, Vol.18 (1), p.34-40

2016

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Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Molecular genetics and metabolism reports, 2017-06, Vol.11 (C), p.75-80

2017

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Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

Pompe disease in infants: improving the prognosis by newborn screening and early treatment

Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial

CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria

Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

Endosialin Protein Expression and Therapeutic Target Potential in Human Solid Tumors: Sarcoma versus Carcinoma

Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature

The Laboratory Mouse: A Guide to the Location and Orientation of Tissues for Optimal Histological Evaluation

Myostatin and insulin-like growth factor I: potential therapeutic biomarkers for pompe disease

Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report

Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered

Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

Characterization of a canine model of glycogen storage disease type IIIa

Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment

Monitoring the 3-Year Efficacy of Enzyme Replacement Therapy in Fabry Disease by Repeated Skin Biopsies

Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study

Optimization of a Histopathological Biomarker for Sphingomyelin Accumulation in Acid Sphingomyelinase Deficiency

Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease

Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingomyelinase deficiency)

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

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