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Pharmacokinetics, pharmacodynamics, and safety of moss‐aGalactosidase A in patients with Fabry disease

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.527-533

2019

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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Journal of medical genetics, 2016-06, Vol.53 (6), p.403-418

2016

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Ocular signs correlate well with disease severity and genotype in Fabry disease

PloS one, 2015-03, Vol.10 (3), p.e0120814-e0120814

2015

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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

Molecular genetics and metabolism, 2008-08, Vol.94 (4), p.469-475

2008

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Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy

Journal of inherited metabolic disease, 2014-03, Vol.37 (2), p.269-276

2014

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Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis?

Graefe's archive for clinical and experimental ophthalmology, 2009-07, Vol.247 (7), p.975-980

2009

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Retinal and optic nerve degeneration in α-mannosidosis

Orphanet journal of rare diseases, 2018-06, Vol.13 (1), p.88-88, Article 88

2018

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Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)

Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.93-93, Article 93

2019

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Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis?

Graefe's archive for clinical and experimental ophthalmology, 2009-07, Vol.247 (7), p.975-980

2009

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Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.70-70, Article 70

2015

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Cytokine profiles in Fabry patients

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S59-S59

2014

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Quantitative longitudinal natural history of 8 gangliosidoses—conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis

Genetics in medicine, 2022-12, Vol.24 (12), p.2434-2443

2022

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Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.385-394

2013

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Alpha-mannosidosis: Correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Inherited metabolic diseases

Orphanet journal of rare diseases, 2015-06

2015

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The Clinical and Molecular Spectrum of GM1 Gangliosidosis

The Journal of pediatrics, 2019-12, Vol.215, p.152-157.e3

2019

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Longterm renal outcome after 10 years enzyme replacement therapy with agalsidase A in Fabry male patients

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S59-S60

2014

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Characterization of a late-infantile subtype in GM2-gangliosidosis: First result of the German “Eight at One Stroke: Attention Gangliosidoses” registry

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S81-S82

2022

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

Journal of inherited metabolic disease, 2010-02, Vol.33 (1), p.51-60

2010

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Trial of N-Acetyl-l-Leucine in Niemann–Pick Disease Type C

The New England journal of medicine, 2024-02, Vol.390 (5), p.421-431

2024

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Results of a phase III, randomized, placebo-controlled crossover trial with N-acetyl-L-leucine for Niemann-Pick disease type C

Molecular genetics and metabolism, 2024-02, Vol.141 (2)

2024

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Results of a phase III, randomized, placebo-controlled crossover trial with -acetyl-L-leucine for Niemann-Pick disease type C

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107827, Article 107827

2024

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Mucopolysaccharidosis Type VII (Sly disease) survivors

Molecular genetics and metabolism, 2013-02, Vol.108 (2), p.S20-S20

2013

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Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy: 50 years of Newborn Screening

Journal of inherited metabolic disease, 2014, Vol.37 (2), p.269-276

2014

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Pharmacokinetics, pharmacodynamics, and safety of moss‐aGalactosidase A in patients with Fabry disease

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Ocular signs correlate well with disease severity and genotype in Fabry disease

Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study

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

Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy

Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis?

Retinal and optic nerve degeneration in α-mannosidosis

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)

Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis?

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

Cytokine profiles in Fabry patients

Quantitative longitudinal natural history of 8 gangliosidoses—conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

Alpha-mannosidosis: Correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Inherited metabolic diseases

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

The Clinical and Molecular Spectrum of GM1 Gangliosidosis

Longterm renal outcome after 10 years enzyme replacement therapy with agalsidase A in Fabry male patients

Characterization of a late-infantile subtype in GM2-gangliosidosis: First result of the German “Eight at One Stroke: Attention Gangliosidoses” registry

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

Trial of N-Acetyl-l-Leucine in Niemann–Pick Disease Type C

Results of a phase III, randomized, placebo-controlled crossover trial with N-acetyl-L-leucine for Niemann-Pick disease type C

Results of a phase III, randomized, placebo-controlled crossover trial with -acetyl-L-leucine for Niemann-Pick disease type C

Mucopolysaccharidosis Type VII (Sly disease) survivors

Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy: 50 years of Newborn Screening

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