(Q21202909)

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Alpha-mannosidosis

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scholarly article

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10 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 September 2019

6 November 2020

Alpha-mannosidosis (English)

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alpha-mannosidosis

10 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 September 2019

6 November 2020

genetic variation

1 reference

14 September 2019

1 reference

28 September 2019

1 reference

6 November 2020

Øivind Nilssen

2

author given names

Øivind

author last names

Nilssen

object named as

Øivind Nilssen

1 reference

Dimensions Publication ID

18 August 2022

1

author given names

Dag

author last names

Malm

object named as

Dag Malm

1 reference

Dimensions Publication ID

18 August 2022

language of work or name

0 references

publication date

23 July 2008

10 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 September 2019

6 November 2020

Orphanet Journal of Rare Diseases

10 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 September 2019

6 November 2020

3

0 references

1

0 references

21

0 references

copyright license

Creative Commons Attribution 2.0 Generic

10 references

Europe PubMed Central

14 March 2019

Europe PubMed Central

21 March 2019

Europe PubMed Central

24 March 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

25 April 2019

Europe PubMed Central

20 June 2019

Europe PubMed Central

30 June 2019

Europe PubMed Central

14 September 2019

Europe PubMed Central

28 September 2019

Europe PubMed Central

6 November 2020

copyright status

0 references

on focus list of Wikimedia project

0 references

https://scigraph.springernature.com/pub.10.1186/1750-1172-3-21

0 references

Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

19 March 2017

Cloning, expression, purification, and characterization of the human broad specificity lysosomal acid alpha-mannosidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

19 March 2017

The structure of bovine lysosomal alpha-mannosidase suggests a novel mechanism for low-pH activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

19 March 2017

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

Mammalian N-glycan branching protects against innate immune self-recognition and inflammation in autoimmune disease pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

Destructive joint disease in alpha-mannosidosis. A case report and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

Spectrum of mutations in alpha-mannosidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

Differential binding of lectins IL-2 and CSL to candida albicans and cancer cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

Genomic structure of the human lysosomal alpha-mannosidase gene (MANB).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

Mammalian alpha-mannosidases--multiple forms but a common purpose?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

Bone marrow transplantation in the treatment of alpha-mannosidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

The substrate specificity of bovine and feline lysosomal alpha-D-mannosidases in relation to alpha-mannosidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

Mannosidosis: Phenotype of a severely affected child and characterization of α-mannosidase activity in cultured fibroblasts from the patient and his parents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

12 September 2017

Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

27 September 2017

Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

27 September 2017

Genu valgum deformity in Hurler syndrome after hematopoietic stem cell transplantation: correction by surgical intervention.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

Characterization of a novel alpha-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

Oligomannosides or oligosaccharide-lipids as potential substrates for rat liver cytosolic alpha-D-mannosidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

Oral zinc therapy in the treatment of alpha-mannosidosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

The clinical course of mannosidosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

Mannosidosis: A clinical and histopathologic study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

Mannosidosis: isolation of oligosaccharide storage material from brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

In vitro hydrolysis of oligomannosyl oligosaccharides by the lysosomal alpha-D-mannosidases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

First reported case of alpha-mannosidosis in the RSA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

Phenotypic variability of mannosidosis type II: report of two Greek siblings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

Severe destructive polyarthropathy in association with a metabolic storage disease. A case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

Clinical manifestations of mannosidosis--a longitudinal study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

Mannosidosis: clinical, morphologic, immunologic, and biochemical studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

Ocular findings in mannosidosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

30 May 2018

Early onset alpha-mannosidosis with slow progression in three Hispanic males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

29 November 2018

Enzyme replacement therapy in alpha-mannosidosis guinea-pigs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

29 November 2018

Bilateral patellar dislocation associated with alpha-mannosidase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

29 November 2018

Psychiatric symptoms in alpha-mannosidosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

29 November 2018

Adult alpha-mannosidosis: clinical progression in the absence of demyelination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

29 November 2018

Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

29 November 2018

Alpha-mannosidosis and mutational analysis in a Turkish patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

29 November 2018

Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

29 November 2018

Mannosidosis: an unusual cause of a deforming arthropathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

29 November 2018

[Alpha-mannosidosis]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

29 November 2018

Mannosidosis: two brothers with different degrees of disease severity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

29 November 2018

Alpha-mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2515294

29 November 2018

Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel mutations in the gene for human alpha-mannosidase that cause alpha-mannosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sisters with alpha-mannosidosis and systemic lupus erythematosus

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Urinary oligosaccharides of mannosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Zinc therapy in the bovine mannosidosis model

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unusual clinical and ultrastructural features in a boy with biochemically typical mannosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of urinary oligosaccharides from mannosidosis: mass spectrometric analysis of permethylated Man9, Man8, and Man7 derivatives

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Communicating hydrocephalus and lysosomal inclusions in mannosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cell contact induces the synthesis of a lysosomal enzyme precursor in lymphocytes and its direct transfer to fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lymphocytes transfer only the lysosomal form of alpha-D-mannosidase during cell-to-cell contact

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MR findings in mannosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Developmental analysis of CNS pathology in the lysosomal storage disease alpha-mannosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal transplantation in a case of mannosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the human MANB gene encoding lysosomal alpha-D-mannosidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bone marrow transplantation for the treatment of alpha-mannosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651971

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A GENERALISED STORAGE DISORDER RESEMBLING HURLER'S SYNDROME

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-3-21

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1186/1750-1172-3-21

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