Works by Malm, Dag

Results: 15

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

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 79, doi. 10.1007/s10545-013-9622-2

By:

Malm, Dag;
Riise Stensland, Hilde;
Edvardsen, Øyvind;
Nilssen, Øivind

Publication type:

Article

Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1023, doi. 10.1007/s10545-011-9331-7

By:

Avenarius, Derk;
Svendsen, John-Sigurd;
Malm, Dag

Publication type:

Article

Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations.

Published in:

Human Mutation, 2016, v. 37, n. 8, p. 827, doi. 10.1002/humu.23002

By:

Riise Stensland, Hilde Monica Frostad;
Klenow, Helle Bagterp;
Nguyen, Lam Van;
Hansen, Gaute Martin;
Malm, Dag;
Nilssen, Øivind

Publication type:

Article

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.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 581, doi. 10.1002/humu.22787

By:

Riise Stensland, Hilde Monica Frostad;
Frantzen, Gabrio;
Kuokkanen, Elina;
Buvang, Elisabeth Kjeldsen;
Klenow, Helle Bagterp;
Heikinheimo, Pirkko;
Malm, Dag;
Nilssen, Øivind

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 511, doi. 10.1002/humu.22005

By:

Riise Stensland, Hilde Monica Frostad;
Klenow, Helle Bagterp;
Nguyen, Lam Van;
Hansen, Gaute Martin;
Malm, Dag;
Nilssen, Øivind

Publication type:

Article

Clinical utility gene card for: α-Mannosidosis.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 1, doi. 10.1038/ejhg.2011.5

By:

Nilssen, Øivind;
Stensland, Hilde Monica Frostad Riise;
Malm, Dag

Publication type:

Article

Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.

Published in:

2022

By:

Hennermann, Julia B.;
Raebel, Eva M.;
Donà, Francesca;
Jacquemont, Marie-Line;
Cefalo, Graziella;
Ballabeni, Andrea;
Malm, Dag

Publication type:

journal article

α-Mannosidosis:Functional Cloning of the Lysosomal α-Mannosidase cDNA and Identification of a Mutation in Two Affected Siblings.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 717, doi. 10.1093/hmg/6.5.717

By:

Nilssen, Øivind;
Berg, Thomas;
Riise, Hilde M. F.;
Ramachandran, Umayal;
Evjen, Gry;
Hansen, Gaute M.;
Malm, Dag;
Tranebjaerg, Lisbeth;
Tollersrud, Ole K.

Publication type:

Article

Sisters with alpha-mannosidosis and systemic lupus erythematosus.

Published in:

2004

By:

Urushihara, Maki;
Kagami, Shoji;
Yasutomo, Koji;
Ito, Michinori;
Kondo, Shuji;
Kitamura, Akiko;
Malm, Dag;
Klenow, Helle;
Nilssen, Oivind;
Kuroda, Yasuhiro

Publication type:

journal article

Sisters with α-mannosidosis and systemic lupus erythematosus.

Published in:

European Journal of Pediatrics, 2004, v. 163, n. 4/5, p. 192, doi. 10.1007/s00431-004-1404-2

By:

Urushihara, Maki;
Kagami, Shoji;
Yasutomo, Koji;
Ito, Michinori;
Kondo, Shuji;
Kitamura, Akiko;
Malm, Dag;
Klenow, Helle;
Nilssen, Oivind;
Kuroda, Yasuhiro

Publication type:

Article

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

Published in:

2000

By:

Malm, Dag;
Halvorsen, Dag S.;
Tranebjærg, Lisbeth;
Sjursen, Haakon;
Malm, D;
Halvorsen, D S;
Tranebjaerg, L;
Sjursen, H

Publication type:

journal article

Natural history of alpha mannosidosis a longitudinal study.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-88

By:

Beck, Michael;
Olsen, Klaus J.;
Wraith, James E.;
Zeman, Jiri;
Michalski, Jean-Claude;
Saftig, Paul;
Fogh, Jens;
Malm, Dag

Publication type:

Article

Natural history of alpha mannosidosis a longitudinal study.

Published in:

2013

By:

Beck, Michael;
Olsen, Klaus J;
Wraith, James E;
Zeman, Jiri;
Michalski, Jean-Claude;
Saftig, Paul;
Fogh, Jens;
Malm, Dag

Publication type:

journal article

Alpha-mannosidosis.

Published in:

2008

By:

Malm D;
Nilssen ø;
Malm, Dag;
Nilssen, Øivind

Publication type:

journal article

Alpha-mannosidosis.

Published in:

Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-21

By:

Malm, Dag;
Nilssen, Øivind

Publication type:

Article