Filter Applied: genetic diagnosis,prenatal (Click to remove)
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
CT Scans in Menkes Disease
Neurol 29:304-312, Seay,A.R.,et al, 1979