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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 14
2003 2
2004 5
2005 7
2006 6
2007 5
2008 7
2009 6
2010 12
2011 8
2012 10
2013 11
2014 5
2015 9
2016 11
2017 16
2018 7
2019 8
2020 12
2021 7
2022 7
2023 6
2024 11

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167 results

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Page 1
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Wassenberg T, et al. Among authors: heales s. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Orphanet J Rare Dis. 2017. PMID: 28100251 Free PMC article. Review.
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD). Opladen T, et al. Among authors: heales s. Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. Orphanet J Rare Dis. 2020. PMID: 32456656 Free PMC article. Review.
Drug-Induced Mitochondrial Toxicity.
Hargreaves IP, Al Shahrani M, Wainwright L, Heales SJ. Hargreaves IP, et al. Among authors: heales sj. Drug Saf. 2016 Jul;39(7):661-74. doi: 10.1007/s40264-016-0417-x. Drug Saf. 2016. PMID: 26992920 Review.
Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial.
Schoeler NE, Marston L, Lyons L, Halsall S, Jain R, Titre-Johnson S, Balogun M, Heales SJR, Eaton S, Orford M, Neal E, Reilly C, Eltze C, Stephen E, Mallick AA, O'Callaghan F, Agrawal S, Parker A, Kirkpatrick M, Brunklaus A, McLellan A, McCullagh H, Samanta R, Kneen R, Tan HJ, Devlin A, Prasad M, Rattihalli R, Basu H, Desurkar A, Williams R, Fallon P, Nazareth I, Freemantle N, Cross JH; KIWE study group. Schoeler NE, et al. Among authors: heales sjr. Lancet Neurol. 2023 Dec;22(12):1113-1124. doi: 10.1016/S1474-4422(23)00370-8. Lancet Neurol. 2023. PMID: 37977712 Free article. Clinical Trial.
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Gurung S, Timmermand OV, Perocheau D, Gil-Martinez AL, Minnion M, Touramanidou L, Fang S, Messina M, Khalil Y, Spiewak J, Barber AR, Edwards RS, Pinto PL, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Ridout D, Heywood W, Hargreaves I, Heales S, Mills PB, Waddington SN, Gissen P, Eaton S, Ryten M, Feelisch M, Frassetto A, Witney TH, Baruteau J. Gurung S, et al. Among authors: heales s. Sci Transl Med. 2024 Jan 10;16(729):eadh1334. doi: 10.1126/scitranslmed.adh1334. Epub 2024 Jan 10. Sci Transl Med. 2024. PMID: 38198573 Free PMC article.
Cerebral folate deficiency.
Hyland K, Shoffner J, Heales SJ. Hyland K, et al. Among authors: heales sj. J Inherit Metab Dis. 2010 Oct;33(5):563-70. doi: 10.1007/s10545-010-9159-6. Epub 2010 Jul 29. J Inherit Metab Dis. 2010. PMID: 20668945 Review.
A pilot study of alternative substrates in the critically Ill subject using a ketogenic feed.
McNelly A, Langan A, Bear DE, Page A, Martin T, Seidu F, Santos F, Rooney K, Liang K, Heales SJ, Baldwin T, Alldritt I, Crossland H, Atherton PJ, Wilkinson D, Montgomery H, Prowle J, Pearse R, Eaton S, Puthucheary ZA. McNelly A, et al. Among authors: heales sj. Nat Commun. 2023 Dec 15;14(1):8345. doi: 10.1038/s41467-023-42659-8. Nat Commun. 2023. PMID: 38102152 Free PMC article. Clinical Trial.
167 results