Allan Lund
Overview
Explore the profile of Allan Lund including associated specialties, affiliations and a list of published articles.
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Articles
17
Citations
59
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0
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Recent Articles
1.
Guffon N, Borgwardt L, Tylki-Szymanska A, Ballabeni A, Dona F, Joseph A, et al.
J Inherit Metab Dis
. 2024 Oct;
48(1):e12799.
PMID: 39381850
Enzyme replacement therapy (ERT) using velmanase alfa previously showed promising efficacy and safety outcomes for up to 4 years of therapy in patients with alpha-mannosidosis. This pooled analysis from two...
2.
Muntau A, Longo N, Ezgu F, Schwartz I, Lah M, Bratkovic D, et al.
Lancet
. 2024 Oct;
404(10460):1333-1345.
PMID: 39368841
Background: Phenylketonuria is an inherited condition characterised by neurotoxic accumulation of phenylalanine (Phe). APHENITY assessed the efficacy and safety of orally administered synthetic sepiapterin in children and adults with phenylketonuria....
3.
Mejdahl Nielsen M, Petersen E, Fenger C, Orngreen M, Siebner H, Boer V, et al.
Mol Genet Metab
. 2023 Sep;
140(3):107694.
PMID: 37708665
Creatine transporter deficiency (CTD), caused by pathogenic variants in SLC6A8, is the second most common cause of X-linked intellectual disability. Symptoms include intellectual disability, epilepsy, and behavioral disorders and are...
4.
Lievin V, Hansen J, Lund A, Elstein D, Matthiesen M, Elomaa K, et al.
PLOS Digit Health
. 2023 Jun;
2(6):e0000269.
PMID: 37384616
Early diagnosis is crucial for well-being and life quality of the rare disease patient. Access to the most complete knowledge about diseases through intelligent user interfaces can play an important...
5.
Nordmann Winther T, Nielsen A, Lund A, Larsen F, Jorgensen M
Acta Paediatr
. 2023 Mar;
112(5):1082-1090.
PMID: 36895112
Aim: Paediatric acute liver failure (P-ALF) is a rare and devastating condition that leads to death or liver transplantation (LTx) in 40%-60% of cases. Determining the aetiology can enable disease-specific...
6.
Guffon N, Konstantopoulou V, Hennermann J, Muschol N, Bruno I, Tummolo A, et al.
J Inherit Metab Dis
. 2023 Feb;
46(4):705-719.
PMID: 36849760
Alpha-mannosidosis (AM) is a rare, autosomal recessive, lysosomal storage disorder caused by alpha-mannosidase deficiency that leads to the accumulation of mannose-rich oligosaccharides. AM symptoms and severity vary among individuals; consequently,...
7.
Raaschou-Pedersen D, Madsen K, Lokken N, Storgaard J, Quinlivan R, Laforet P, et al.
Neuromuscul Disord
. 2022 Mar;
32(4):295-304.
PMID: 35241345
Phosphofructokinase deficiency (PFKD) is a rare disorder of glycogen metabolism. The lack of phosphofructokinase activity blocks the oxidative pathway from glucose and glycogen to pyruvate. Patients suffer from myopathy, exercise...
8.
Kessel L, Bach-Holm D, Al-Bakri M, Roos L, Lund A, Gronskov K
Ophthalmic Genet
. 2021 Jun;
42(6):650-658.
PMID: 34169787
: Bilateral childhood cataracts can be caused by a metabolic disease, constitute a part of a syndrome, run in families, be sporadic or iatrogenic. The amount of work-up needed to...
9.
Strandbech O, Lund A, Ostergaard E
JIMD Rep
. 2021 May;
59(1):10-15.
PMID: 33977024
Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of alkaline phosphatase, causing defective mineralization of bones and teeth. The symptoms vary from no symptoms to stillbirth...
10.
Nohr T, Eriksen P, Lund A, Vilstrup H, Thomsen K
Ugeskr Laeger
. 2021 Apr;
183(13).
PMID: 33829995
Hyperammonaemic encephalopathy (HAE) in adults in the absence of acute or chronic liver disease is a severe condition caused by inborn errors of metabolism or acquired conditions like bariatric surgery,...