(Q35575479)

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amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis

scientific article published on 9 April 2015

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scholarly article

1 reference

Europe PubMed Central

8 August 2017

amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis (English)

1 reference

Europe PubMed Central

8 August 2017

relational database

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based on heuristic

inferred from title

Øivind Nilssen

8

object named as

Øivind Nilssen

1 reference

Europe PubMed Central

8 August 2017

7

object named as

Dag Malm

1 reference

Europe PubMed Central

8 August 2017

Hilde Monica Frostad Riise Stensland

1

object named as

Hilde Monica Frostad Riise Stensland

1 reference

Europe PubMed Central

8 August 2017

Helle Bagterp Klenow

5

object named as

Helle Bagterp Klenow

1 reference

Europe PubMed Central

8 August 2017

author name string

Gabrio Frantzen

2

1 reference

Europe PubMed Central

8 August 2017

Elina Kuokkanen

3

1 reference

Europe PubMed Central

8 August 2017

Elisabeth Kjeldsen Buvang

4

1 reference

Europe PubMed Central

8 August 2017

Pirkko Heikinheimo

6

1 reference

Europe PubMed Central

8 August 2017

language of work or name

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publication date

9 April 2015

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Europe PubMed Central

8 August 2017

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Europe PubMed Central

8 August 2017

36

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Europe PubMed Central

8 August 2017

6

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Europe PubMed Central

8 August 2017

581-586

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Europe PubMed Central

8 August 2017

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

Natural history of alpha mannosidosis a longitudinal study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

Spectrum of mutations in alpha-mannosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

Exome sequencing can improve diagnosis and alter patient management

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

The natural course and complications of alpha-mannosidosis--a retrospective and descriptive study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

Purification of bovine lysosomal alpha-mannosidase, characterization of its gene and determination of two mutations that cause alpha-mannosidosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

7 January 2021

based on heuristic

inferred from DOI database lookup

[Adult leukoencephalopathy caused by alpha-mannosidosis deficiency]

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation and characterization of the gene encoding the mouse broad specificity lysosomal alpha-mannosidase1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

7 January 2021

based on heuristic

inferred from DOI database lookup

Sisters with alpha-mannosidosis and systemic lupus erythematosus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22787

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22787

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

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