Horman A - Search Results

1

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.

Sitaram S, Banka HC, Vassallo G, Pavaine J, Fairclough A, Wright R, Fairbanks L, Bierau J, Bowden L, Schwahn B, Horman A, Banka S. Sitaram S, et al. Among authors: horman a. Am J Med Genet A. 2023 Jan;191(1):234-237. doi: 10.1002/ajmg.a.62999. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271826 Free PMC article.

2

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.

Schwahn BC, van Spronsen F, Misko A, Pavaine J, Holmes V, Spiegel R, Schwarz G, Wong F, Horman A, Pitt J, Sass JO, Lubout C. Schwahn BC, et al. Among authors: horman a. J Inherit Metab Dis. 2024 Jul;47(4):598-623. doi: 10.1002/jimd.12730. Epub 2024 Apr 16. J Inherit Metab Dis. 2024. PMID: 38627985

3

Pharmacodynamic profiling in three patients with molybdenum cofactor deficiency type A reveals prolonged biological effects after withdrawal of cyclic pyranopterin monophosphate.

Schwahn BC, Barvíková K, Wu HT, Horman A, Emmett E, Kožich V. Schwahn BC, et al. Among authors: horman a. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108563. doi: 10.1016/j.ymgme.2024.108563. Epub 2024 Aug 10. Mol Genet Metab. 2024. PMID: 39168057

4

cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.

Schwahn BC, Hart C, Smith LA, Hart A, Fairbanks L, Arenas-Hernandez M, Turner C, Horman A, Rust S, Santamaria-Araujo JA, Mayr SJ, Schwarz G, Sharrard M. Schwahn BC, et al. Among authors: horman a. Mol Genet Metab. 2024 Dec;143(4):108598. doi: 10.1016/j.ymgme.2024.108598. Epub 2024 Oct 29. Mol Genet Metab. 2024. PMID: 39488078

5

Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots.

Hirachan R, Horman A, Burke D, Heales S. Hirachan R, et al. Among authors: horman a. JIMD Rep. 2024 Feb 19;65(2):124-131. doi: 10.1002/jmd2.12413. eCollection 2024 Mar. JIMD Rep. 2024. PMID: 38444576 Free PMC article.

6

Identification of a new Clostridium perfringens variant with a chromosomally encoded enterotoxin gene in a suspected persistent food poisoning outbreak in Eritrea.

Lahti P, Jaakkola K, Hörman A, Heikinheimo A, Sovijärvi A, Korkeala H. Lahti P, et al. Among authors: horman a. Front Microbiol. 2024 Oct 15;15:1459840. doi: 10.3389/fmicb.2024.1459840. eCollection 2024. Front Microbiol. 2024. PMID: 39529666 Free PMC article.

7

Contamination by Norovirus and Adenovirus on Environmental Surfaces and in Hands of Conscripts in Two Finnish Garrisons.

Oristo S, Rönnqvist M, Aho M, Sovijärvi A, Hannila-Handelberg T, Hörman A, Nikkari S, Kinnunen PM, Maunula L. Oristo S, et al. Among authors: horman a. Food Environ Virol. 2017 Mar;9(1):62-71. doi: 10.1007/s12560-016-9262-4. Epub 2016 Sep 30. Food Environ Virol. 2017. PMID: 27696180 Free PMC article.

8

Antimicrobial Resistance Profiles of Campylobacter spp. Isolated from Broiler Chicken Meat of Estonian, Latvian and Lithuanian Origin at Estonian Retail Level and from Patients with Severe Enteric Infections in Estonia.

Mäesaar M, Kramarenko T, Meremäe K, Sõgel J, Lillenberg M, Häkkinen L, Ivanova M, Kovalenko K, Hörman A, Hänninen ML, Roasto M. Mäesaar M, et al. Among authors: horman a. Zoonoses Public Health. 2016 Mar;63(2):89-96. doi: 10.1111/zph.12208. Epub 2015 Jun 6. Zoonoses Public Health. 2016. PMID: 26053630

9

Pilot-scale continuous ultrasonic cleaning equipment reduces Listeria monocytogenes levels on conveyor belts.

Tolvanen R, Lundén J, Hörman A, Korkeala H. Tolvanen R, et al. Among authors: horman a. J Food Prot. 2009 Feb;72(2):408-11. doi: 10.4315/0362-028x-72.2.408. J Food Prot. 2009. PMID: 19350988 Free article.

10

High level of antimicrobial resistance in Campylobacter jejuni isolated from broiler chickens in Estonia in 2005 and 2006.

Roasto M, Juhkam K, Tamme T, Hörman A, Häkkinen L, Reinik M, Karus A, Hänninen ML. Roasto M, et al. Among authors: horman a. J Food Prot. 2007 Aug;70(8):1940-4. doi: 10.4315/0362-028x-70.8.1940. J Food Prot. 2007. PMID: 17803154 Free article.

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