Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Niranjan P, Joshi"'
Autor:
Fabian, Baertling, Fathiya, Al-Murshedi, Laura, Sánchez-Caballero, Khalfan, Al-Senaidi, Niranjan P, Joshi, Hanka, Venselaar, Mariël Am, van den Brand, Leo Gj, Nijtmans, Richard Jt, Rodenburg
Publikováno v:
Human mutation. 38(6)
COX5A is a nuclear-encoded subunit of mitochondrial respiratory chain complex IV (cytochrome c oxidase). We present patients with a homozygous pathogenic variant in the COX5A gene. Clinical details of two affected siblings suffering from early-onset
Autor:
Chittaranjan S, Yajnik, Himangi G, Lubree, Nileema V, Thuse, Lalita V, Ramdas, Swapna S, Deshpande, Vaishali U, Deshpande, Jyoti A, Deshpande, Bhagyashree S, Uradey, Anjali A, Ganpule, Sadanand S, Naik, Niranjan P, Joshi, Hannah, Farrant, Helga, Refsum
Publikováno v:
Asia Pacific journal of clinical nutrition. 16(1)
People in India have a high prevalence of low vitamin B12 status and high plasma total homocysteine (tHcy) concentrations. In a proof of principle trial, we studied the effect of oral vitamin B12 (500 microg) and/or 100 g cooked green leafy vegetable