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pro vyhledávání: '"Atsushi Yasaka"'
Publikováno v:
Pediatric neurology. 16(4)
We evaluated brainstem dysfunction in a girl with Leigh disease. Neuroradiological and neurophysiological tests included brain magnetic resonance imaging, [123I]IMP single-photon emission computed tomography (SPECT), auditory brainstem responses (ABR
Publikováno v:
Electroencephalography and Clinical Neurophysiology/Electromyography and Motor Control. 97:S188
Autor:
Hajime Orimo, Atsushi Yasaka, Yutaka Tsuchiya, Tateo Suda, Masataka Shiraki, Nobutake Matsuo, Mitio Kumagai, Hideo Cho
Publikováno v:
The Journal of clinical endocrinology and metabolism. 51(4)
A 12-yr-old female patient with an unusual form of vitamin D dependency and alopecia is described. She was a product of consanguineous mating and developed signs and symptoms suggesting vitamin D dependency early in life. Neither 150 microgram/day (6