(Q36952375)

17 August 2017

Natural history of alpha mannosidosis a longitudinal study (English)

1 reference

17 August 2017

Jiri Zeman

4

0 references

author name string

Michael Beck

1

1 reference

17 August 2017

Klaus J Olsen

2

1 reference

17 August 2017

James E Wraith

3

1 reference

17 August 2017

Jean-Claude Michalski

5

1 reference

17 August 2017

Paul Saftig

6

1 reference

17 August 2017

Jens Fogh

7

1 reference

17 August 2017

Dag Malm

8

1 reference

17 August 2017

20 June 2013

1 reference

Orphanet Journal of Rare Diseases

17 August 2017

1 reference

17 August 2017

8

1 reference

17 August 2017

88

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-8-88

17 August 2017

0 references

cites work

Use of national and international growth charts for studying height in European children: development of up-to-date European height-for-age charts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in α-mannosidosis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Hearing loss due to mannosidosis and otitis media with effusion. A case report and review of audiological assessments in children with otitis media with effusion

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

The frequency of lysosomal storage diseases in The Netherlands.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Prevalence of lysosomal storage disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Standardization of Spirometry, 1994 Update. American Thoracic Society

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Reference equations for the six-minute walk in healthy adults

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Synthesis and processing of protein-linked oligosaccharides in vivo

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

The clinical course of mannosidosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Clinical manifestations of mannosidosis--a longitudinal study

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Mannosidosis: clinical, morphologic, immunologic, and biochemical studies

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Ocular findings in mannosidosis.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

A new variant of mannosidosis with increased residual enzymatic activity and mild clinical manifestation.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Six-minute walk test in children and adolescents.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Late-onset retinal dystrophy in alpha-mannosidosis

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Electrospray ionization ion trap mass spectrometry for structural characterization of oligosaccharides derivatized with 2-aminobenzamide

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

A step in the right direction: assessing exercise tolerance in cystic fibrosis.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691585

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

4 September 2018

1 reference

12 December 2020

Measurement of health status in children with juvenile rheumatoid arthritis

1 reference

12 December 2020

The health assessment questionnaire 1992: status and review

1 reference

12 December 2020

Long-term follow-up of biochemical and cognitive functioning in patients with mannosidosis

1 reference

12 December 2020

Stair climbing as an indicator of pulmonary function

1 reference

12 December 2020

Structural studies of urinary oligosaccharides from patients with mannosidosis

1 reference

12 December 2020

Reference values for a multiple repetition 6-minute walk test in healthy adults older than 20 years

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-8-88

1 reference

Dimensions Publication ID

17 August 2017

0 references

1 reference

17 August 2017

1 reference