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Quoted phrase not found in phrase index: "POLG-Related Spectrum Disorders"
Page 1
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824.
Hum Mutat. 2008.
PMID: 18546365
Free PMC article.
Two mutant alleles were identified in 31 unrelated index patients with autosomal recessive POLG-related disorders. Among them, 20 (67%) had Alpers syndrome, 4 (13%) had arPEO, and 3 (10%) had ANS. ...In conclusion, sequence analysis allows the identification …
Two mutant alleles were identified in 31 unrelated index patients with autosomal recessive POLG-related disorders. Amon …
The presence of anaemia negatively influences survival in patients with POLG disease.
Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA.
Hikmat O, et al.
J Inherit Metab Dis. 2017 Nov;40(6):861-866. doi: 10.1007/s10545-017-0084-9. Epub 2017 Sep 1.
J Inherit Metab Dis. 2017.
PMID: 28865037
The aim of this study was to analyse the frequency of anaemia in a large cohort of patients with POLG related disease. METHODS: We conducted a multi-national, retrospective study of 61 patients with confirmed, pathogenic biallelic POLG mutations from six cent …
The aim of this study was to analyse the frequency of anaemia in a large cohort of patients with POLG related disease. …
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