11,25 15,00 Save 3,75 Add to basket 10% off Wasted Marya Hornbacher 24 Sep 1998 Paperback 11,49 12,90 Save 1,41 Add to basket 75% off Our Kind of People Uzodinma Iweala 05 Jul 2012 Paperback 6,50 26,56 Save 20,06 Add to basket Spirit Catches You and You Fall [bookdepository.com]

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Because of a failure to thrive, the younger child received nasogastric feeding. Her early childhood was complicated by recurrent infections. Severe epilepsy started in the girl at the age of 5 weeks, and in her brother at the age of 6 months. [jci.org]

Other frequent signs and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). [malacards.org]

Histology of the skin showed lipid droplet accumulation in the stratum corneum and keratinocytes, which suggests defective epidermal lipid metabolism. [ncbi.nlm.nih.gov]

[…] stress) may be a pathogenetic factor in the course of the disease, and suggests new therapeutic approaches in MKD. [nature.com]

These conditions suggested that accumulation of damaged mitochondria could be the trigger for NACHT, LRR and PYD domains-containing protein 3 (NALP3) inflammasome activation. [mdpi.com]

A very low flash electroretinogram suggested early retinopathy in the baby girl. Both children showed recurrent moderately elevated transaminases and creatine kinase, and signs of mild coagulopathy (Table 1). [jci.org]