Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency (Q36032818)

11 August 2017

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

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11 August 2017

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7

Kerry Culm-Merdek

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11 August 2017

6

Beth L Thurberg

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11 August 2017

Melissa P Wasserstein

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object named as

Melissa P Wasserstein

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11 August 2017

Simon A Jones

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11 August 2017

Handrean Soran

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11 August 2017

George A Diaz

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11 August 2017

Natalie Lippa

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11 August 2017

Elias Shamiyeh

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11 August 2017

Haig Inguilizian

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11 August 2017

Gerald F Cox

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11 August 2017

Ana Cristina Puga

11

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11 August 2017

30 May 2015

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Molecular Genetics and Metabolism

11 August 2017

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11 August 2017

116

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11 August 2017

88-97

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11 August 2017

1-2

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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).

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Iron Balance in Regular Blood Donors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Characterization of and risk factors for the acute-phase response after zoledronic acid

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

The long-term international safety experience of imiglucerase therapy for Gaucher disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Interpretative strategies for lung function tests

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Standardisation of spirometry

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Therapeutic goals in the treatment of Gaucher disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Ceramide, membrane rafts and infections

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Pain assessment: the advantages of using pain scales in lysosomal storage diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Spirometric reference values from a sample of the general U.S. population

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Signal transduction through lipid second messengers

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Pain assessment: global use of the Brief Pain Inventory

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Single breath diffusing capacity in a representative sample of the population of Michigan, a large industrial state. Predicted values, lower limits of normal, and frequencies of abnormality by smoking history

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Morbidity and mortality in type B Niemann-Pick disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Lipid abnormalities in children with types A and B Niemann Pick disease

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561589

Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology

23 September 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.05.013

Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency:the utility of animal models of disease in the toxicological evaluation of potential therapeutics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.05.013

The rapid assessment of fatigue severity in cancer patients: use of the Brief Fatigue Inventory

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.05.013

Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.05.013

Secretory sphingomyelinase, a product of the acid sphingomyelinase gene, can hydrolyze atherogenic lipoproteins at neutral pH. Implications for atherosclerotic lesion development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.05.013

CCL18: a urinary marker of Gaucher cell burden in Gaucher patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.05.013

Evaluation of three biochemical markers in the monitoring of Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.05.013

Elosulfase alfa: first global approval

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.05.013

10.1016/J.YMGME.2015.05.013

7 January 2021

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DOI

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11 August 2017

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11 August 2017

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