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Paracetamol toxicity in classic homocystinuria: Effect of N-acetylcysteine on total homocysteine.
JIMD Rep. 2023 Mar 3;64(3):238-245. doi: 10.1002/jmd2.12363. eCollection 2023 May.
JIMD Rep. 2023.
PMID: 37151359
Free PMC article.
NAC is clearly effective in lowering tHcy in classical HCU in the short-term however further research is required to assess clinical efficacy and use as a potential therapy in classical HCU....
NAC is clearly effective in lowering tHcy in classical HCU in the short-term however further research is required to assess clinical …
Thirty-years of screening for cystic fibrosis in East Anglia.
Calvin J, Hogg SL, McShane D, McAuley SA, Iles R, Ross-Russell R, MacLean FM, Heeley ME, Heeley AF; Norfolk, Suffolk and Cambridgeshire Paediatric Cystic Fibrosis Network.
Calvin J, et al. Among authors: hogg sl.
Arch Dis Child. 2012 Dec;97(12):1043-7. doi: 10.1136/archdischild-2012-301968. Epub 2012 Oct 16.
Arch Dis Child. 2012.
PMID: 23076339
The PPVs increased to 82.2% and 98.2% respectively if only well, term babies were considered. The main factor to account for this improvement in PPV has probably been the incorporation of DNA analysis in the second tier testing. ...
The PPVs increased to 82.2% and 98.2% respectively if only well, term babies were considered. The main factor to account for this imp …
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3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.
Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM, Morava E, Wevers RA.
Wortmann SB, et al. Among authors: hogg sl.
Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a.
Neurology. 2010.
PMID: 20855850
The variable features found in affected children may be coincidental. Long-term follow-up in children is essential to learn more about the natural course of this presumably slowly progressive disease. ...
The variable features found in affected children may be coincidental. Long-term follow-up in children is essential to learn more abou …
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