Letournel F, Etcharry-Bouyx F, Verny C, et al: Two clinicopathologic cases of a dominantly inherited adult onset orthochromatic leucodystrophy. J Neurol Neurosurg Psychiatry 74:671, 2003.
Levy HL: Screening of the newborn. In: Tausch HW, Ballard RA, Avery ME (eds): Diseases of the Newborn. Philadelphia,
Saunders, 1991, pp 111–119.
Logan JI: Hereditary deficiency of ferroxidase (aka ceruloplasmin). J Neurol Neurosurg Psychiatry 61:431, 1996.
Lonsdale D, Faulkner WR, Price JW, Smeby RR: Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia and hyperalaninuria. Pediatrics 43:1025, 1969.
Lott IT, Coulombe T, DiPaolo RV, et al: Vitamin B6-dependent seizures: Pathology and chemical findings in brain. Neurology 28:47, 1978.
Lundborg H: Die progressive Myoklonus-epilepsie (Unverricht’s Myoklonie). Uppsala, Sweden, Almqvist and Wiksell, 1903.
Lyon G, Kolodny EH, Pastores GM: Neurology of Hereditary
Metabolic Diseases of Children, 3rd ed. New York, McGraw-Hill, 2006.
Marsden CD, Harding AE, Obeso JA, Lu C-S: Progressive myoclonic ataxia (the Ramsay Hunt syndrome). Arch Neurol 47:1121, 1990.
Marsden CD, Obeso JA, Lang AE: Adrenoleukomyeloneuropathy presenting as spinocerebellar degeneration. Neurology 32:1031, 1982.
Matalon R, Michals K, Sebesta D, et al: Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 29:463, 1988.
Meek D, Wolfe LS, Andermann E, Andermann F: Juvenile progressive dystonia: A new phenotype of GM2 gangliosidosis. Ann Neurol 15:348, 1984.
Meikle PJ, Hopwood JJ, Clague AE, Carey WF: Prevalence of lysosomal storage diseases. JAMA 281:249, 1999.
Meiner V, Meiner Z, Reshef A, et al: Cerebrotendinous xanthomatosis: Molecular diagnosis enables presymptomatic detection of a treatable disease. Neurology 44:288, 1994.
Miyajima H, Kono S, Takahashi Y, et al: Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation. Neurology 57:2205, 2001.
Miyatake T, Atsumi T, Obayashi T, et al: Adult type neuronal storage disease with neuraminidase deficiency. Ann Neurol 6:232, 1979.
Mole SE, Cotman SL: Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim Biophys Acta 1852:2237, 2015.
Moser AB, Kreiter N, Benzman L, et al: Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol 45:100, 1999.