Neurogastrointestinal Encephalomyopathy 221 Leigh Syndrome and Mitochondrial Leukoencephalopathies 224 Pyruvate Carboxylase Deficiency 245 Multiple Carboxylase Deficiency 248 Cerebrotendinous Xanthomatosis 252 Cockayne Syndrome 259 Trichothiodystrophy with Photosensitivity [books.google.de]

He was easily distractible, with disinhibited behavior and poor short-term memory. His language and constructional abilities were unimpaired. [jamanetwork.com]

Late-adverse effects of the conditioning regimen were not detectable except for an early tremor and a primary amenorrhea. Levels of thyroid and growth hormones remained in the appropriate range until present. [nature.com]

At the age of 7 years, the brother presented with deteriorating schoolwork that progressed over the next few years, and then he developed dysarthria, bradykinesia, ataxia, extensor plantar responses, and urinary incontinence. [jamanetwork.com]

Prior to stem cell-gene transplantation, she was unable to walk up and down the stairs, unable to manage personal hygiene and experienced episodic seizures, severe constipation and occasional urinary incontinence. [hku.hk]