Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Friedreich Ataxia
In Rowland, L. P. Merritt's Textbook of Neurology, 8th Ed, Lea & Febiger, Phila, Ch 13, p627, Rosenberg,R.N., 1989
Isaac Syndrome with Laryngeal Involvement:An Unusual Presentation of Myokymia
Neurol 29:1612-1615, Jackson,D.L.,et al, 1979
Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
(Ed) , 4th edition, The C. V. Mosby Company St. Louis, Chap. 8, pp. 390. , 1972, McKusick,V.A., 1972
Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
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