Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Case-Control Study of Risk Factors of Creutzfeldt-Jacob Disease in Europe During 1993-95
Lancet 351:1081-1085, Van Duijn,C.M.,et al, 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Acute Intermittent Porphyria
JAMA 264:1290-1293, 1315-13161990., Sack,G.H., 1990
Clinical Syndromes of Myasthenia in Infancy & Childhood
Arch Neurol 35:97, Fenichel,G.M., 1978