A M Lund
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Explore the profile of A M Lund including associated specialties, affiliations and a list of published articles.
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57
Citations
489
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Recent Articles
1.
Lund A, Zottola E, Pusch D
J Food Prot
. 2019 May;
54(8):602-606.
PMID: 31051601
Methods used to isolate Listeria spp. from raw milk were compared during a 13-month period (April 1989-April 1990). Raw milk was obtained bimonthly from 12 dairy farms during this time...
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Wevers R, Christensen M, Engelke U, Geuer S, Coene K, Kwast J, et al.
J Inherit Metab Dis
. 2019 Mar;
42(3):494-500.
PMID: 30847922
Genetic defects in the pyrimidine nucleoside transporters of the CNT transporter family have not yet been reported. Metabolic investigations in a patient with infantile afebrile tonic-clonic seizures revealed increased urinary...
4.
Guffon N, Tylki-Szymanska A, Borgwardt L, Lund A, Gil-Campos M, Parini R, et al.
Mol Genet Metab
. 2019 Feb;
126(4):470-474.
PMID: 30792122
Alpha-mannosidosis is an ultra-rare progressive lysosomal storage disorder caused by deficiency of alpha-mannosidase. Timely diagnosis of the disease has the potential to influence patient outcomes as preventive therapies can be...
5.
Hald J, Folkestad L, Swan C, Wanscher J, Schmidt M, Gjorup H, et al.
Osteoporos Int
. 2018 Aug;
29(12):2781-2789.
PMID: 30143849
Introduction: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. The skeletal fragility is pronounced; however, OI leads to a number of extra-skeletal symptoms related to the ubiquity of collagen...
6.
Hald J, Folkestad L, Harslof T, Lund A, Duno M, Jensen J, et al.
Osteoporos Int
. 2016 Jun;
27(11):3331-3341.
PMID: 27256333
Introduction: OI is a hereditary disease characterized by compromised connective tissue predominantly caused by mutations in collagen type 1 (COL-1) encoding genes. Widespread symptoms reflect the ubiquity of COL-1 throughout...
7.
Borgwardt L, Danielsen E, Thomsen C, Mansson J, Taouatas N, Thuesen A, et al.
Clin Genet
. 2015 Jul;
89(4):489-494.
PMID: 26212233
Alpha-mannosidosis (AM) (OMIM 248500) is a rare lysosomal storage disease. The understanding of the central nervous system (CNS) pathology is limited. This study is the first describing the CNS pathology...
8.
Borgwardt L, Thuesen A, Olsen K, Fogh J, Dali C, Lund A
J Inherit Metab Dis
. 2015 May;
38(6):1119-27.
PMID: 26016802
Background: Alpha-mannosidosis (OMIM 248500) (AM) is a rare lysosomal storage disease caused by a deficiency of the alpha-mannosidase enzyme. The typical signs consist of hearing impairment, intellectual disabilities, coarse facial...
9.
Rasmussen J, Thomsen J, Olesen J, Lund T, Mohr M, Clementsen J, et al.
JIMD Rep
. 2015 Feb;
20:103-11.
PMID: 25665836
Background: Primary carnitine deficiency (PCD) is a disorder of fatty acid oxidation with a high prevalence in the Faroe Islands. Only patients homozygous for the c.95A>G (p.N32S) mutation have displayed...
10.
Moller R, Jensen L, Maas S, Filmus J, Capurro M, Hansen C, et al.
Hum Genet
. 2013 Dec;
133(5):625-38.
PMID: 24326587
Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they often include...