Lam AA - Search Results

1

Neurodegeneration or neuroprotection: the pivotal role of astrocytes.

Heales SJ, Lam AA, Duncan AJ, Land JM. Heales SJ, et al. Among authors: lam aa. Neurochem Res. 2004 Mar;29(3):513-9. doi: 10.1023/b:nere.0000014822.69384.0f. Neurochem Res. 2004. PMID: 15038599 Review.

2

Pulmonary hypertension in a GTP-cyclohydrolase 1-deficient mouse.

Nandi M, Miller A, Stidwill R, Jacques TS, Lam AA, Haworth S, Heales S, Vallance P. Nandi M, et al. Among authors: lam aa. Circulation. 2005 Apr 26;111(16):2086-90. doi: 10.1161/01.CIR.0000163268.32638.F4. Epub 2005 Apr 11. Circulation. 2005. PMID: 15824199

3

Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph-1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states.

Lam AA, Hyland K, Heales SJ. Lam AA, et al. J Inherit Metab Dis. 2007 Apr;30(2):256-62. doi: 10.1007/s10545-006-0502-x. Epub 2007 Jan 22. J Inherit Metab Dis. 2007. PMID: 17242981

4

Nitric oxide accelerates the degradation of tetrahydrobiopterin but not total neopterin in cerebrospinal fluid; potential implications for the assessment of tetrahydrobiopterin metabolism.

Lam AA, Heales SJ. Lam AA, et al. Ann Clin Biochem. 2007 Jul;44(Pt 4):394-6. doi: 10.1258/000456307780945741. Ann Clin Biochem. 2007. PMID: 17594789

5

Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.

Manwaring V, Prunty H, Bainbridge K, Burke D, Finnegan N, Franses R, Lam A, Vellodi A, Heales S. Manwaring V, et al. J Inherit Metab Dis. 2012 Mar;35(2):311-6. doi: 10.1007/s10545-011-9360-2. Epub 2011 Jun 18. J Inherit Metab Dis. 2012. PMID: 21687968

6

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.

Forny P, Footitt E, Davison JE, Lam A, Woodward CE, Batzios S, Bhate S, Chakrapani A, Cleary M, Gissen P, Grunewald S, Hurst JA, Scott R, Heales S, Jacques TS, Cullup T, Rahman S. Forny P, et al. Neurol Genet. 2021 May 25;7(3):e597. doi: 10.1212/NXG.0000000000000597. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34056100 Free PMC article.

7

Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q₁₀ Biosynthesis Disorders.

Wahedi A, Sudhakar S, Lam A, Ciancio JIR, Mills P, Gissen P, Gardham A, Kapadia J, Hassell J, Heales S, Rahman S. Wahedi A, et al. Neurol Genet. 2024 Nov 25;10(6):e200209. doi: 10.1212/NXG.0000000000200209. eCollection 2024 Dec. Neurol Genet. 2024. PMID: 39601013 Free PMC article.

8

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.

Schober FA, Tang JX, Sergeant K, Moedas MF, Zierz CM, Moore D, Smith C, Lewis D, Guha N, Hopton S, Falkous G, Lam A, Pyle A, Poulton J, Gorman GS, Taylor RW, Freyer C, Wredenberg A. Schober FA, et al. Hum Mol Genet. 2022 Jun 22;31(12):2049-2062. doi: 10.1093/hmg/ddac002. Hum Mol Genet. 2022. PMID: 35024855 Free PMC article.

9

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.

Poole OV, Everett CM, Gandhi S, Marino S, Bugiardini E, Woodward C, Lam A, Quinlivan R, Hanna MG, Pitceathly RDS. Poole OV, et al. Mitochondrion. 2019 Jul;47:294-297. doi: 10.1016/j.mito.2019.02.004. Epub 2019 Feb 8. Mitochondrion. 2019. PMID: 30743023 Review.

10

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.

Bugiardini E, Bottani E, Marchet S, Poole OV, Beninca C, Horga A, Woodward C, Lam A, Hargreaves I, Chalasani A, Valerio A, Lamantea E, Venner K, Holton JL, Zeviani M, Houlden H, Quinlivan R, Lamperti C, Hanna MG, Pitceathly RDS. Bugiardini E, et al. Neurol Genet. 2020 Jan 7;6(1):e381. doi: 10.1212/NXG.0000000000000381. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042910 Free PMC article.

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