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Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges

Molecular genetics and metabolism reports, 2022-09, Vol.32, p.100900-100900, Article 100900

2022

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Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study

PloS one, 2014-12, Vol.9 (12), p.e114669-e114669

2014

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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

Orphanet journal of rare diseases, 2013-02, Vol.8 (1), p.35-35, Article 35

2013

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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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Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients

Molecular genetics and metabolism reports, 2022-03, Vol.30, p.100843-100843, Article 100843

2022

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Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

Frontiers in immunology, 2019-06, Vol.10, p.1264-1264

2019

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Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

Molecular genetics and metabolism reports, 2020-06, Vol.23, p.100586-100586, Article 100586

2020

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Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis

Journal of inborn errors of metabolism and screening, 2018-09, Vol.6

2018

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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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Acetyl-dl-leucine in Niemann-Pick type C: A case series

Neurology, 2015-10, Vol.85 (16), p.1368

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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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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Retina and optic nerve degeneration in alpha-mannosidosis

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S72-S72

2019

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Retinal and optic nerve degeneration in [alpha]-mannosidosis

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

2018

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A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C

European journal of neurology, 2021-09, Vol.28 (9), p.3040-3050

2021

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Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.1215-1223

2018

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Causes of deaths in Niemann–Pick disease types A and B

Molecular genetics and metabolism, 2013-02, Vol.108 (2), p.S65-S65

2013

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Clinical variability in five pairs of siblings with Niemann–Pick disease type C

Molecular genetics and metabolism, 2013-02, Vol.108 (2), p.S19-S20

2013

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Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

Journal of inherited metabolic disease, 2018-11, Vol.41 (6), p.1225-1233

2018

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Clinical variability of GM1 gangliosidosis

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S62-S62

2018

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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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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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Global treatment response analysis of velmanase alfa long term enzyme replacement therapy for alpha-mannosidosis shows treatment benefit across ages

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S58-S58

2018

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Global treatment responder analysis demonstrates clinically relevant effect of velmanase alfa long term enzyme replacement therapy for alpha mannosidosis, in a phase III randomized placebo controlled trial

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S58-S58

2018

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Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges

Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

Retinal and optic nerve degeneration in α-mannosidosis

Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis

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

Acetyl-dl-leucine in Niemann-Pick type C: A case series

The Clinical and Molecular Spectrum of GM1 Gangliosidosis

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

Retina and optic nerve degeneration in alpha-mannosidosis

Retinal and optic nerve degeneration in [alpha]-mannosidosis

A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

Causes of deaths in Niemann–Pick disease types A and B

Clinical variability in five pairs of siblings with Niemann–Pick disease type C

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

Clinical variability of GM1 gangliosidosis

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

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

Global treatment response analysis of velmanase alfa long term enzyme replacement therapy for alpha-mannosidosis shows treatment benefit across ages

Global treatment responder analysis demonstrates clinically relevant effect of velmanase alfa long term enzyme replacement therapy for alpha mannosidosis, in a phase III randomized placebo controlled trial

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