Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Neurofibromatosis Type I in Children
J Pediatr 116:845-853, Listernick,R.&Charrow,J., 1990