Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency

Authors: Nandaki Keshavan, Michelle Wood, Lucy M. Alderson, Mario Cortina‐Borja, Rachel Skeath, Mel McSweeney, Marjorie Dixon, Maureen A. Cleary, Emma Footitt, Spyros Batzios

Source: JIMD Reports, Vol 63, Iss 2, Pp 123-130 (2022)

Subject Terms: arginase deficiency, hyperammonaemia, metabolic decompensation, trial end points, urea cycle disorder, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/3a5fd91f81d1406a9b90d2ee80e7491a

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease

Authors: Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman

Source: Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2155-2165 (2021)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/7ea99688d16d4beba2c9f25ff13dc276