Rosenberg LE, Scriver CR: Disorders of amino acid metabolism. In: Bondy PK, Rosenberg LE (eds): Metabolic Control and
Disease, 8th ed. Philadelphia, Saunders, 1980, pp 583–776.
Rowe PC, Newman SL, Brusilow SW: Natural history of symptomatic partial ornithine transcarbamylase deficiency. N Engl J Med 314:541, 1986.
Saatci I, Topcu M, Baltaoglu FF, et al: Cranial MRI findings in
Wilson’s disease. Acta Radiol 38:250, 1997.
Santorelli F, Shanske S, Macay A, et al: The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh’s syndrome. Ann Neurol 34:827, 1994.
Savoiardo M, Halliday WC, Nardocci N, et al: Hallervorden-Spatz disease: MR and pathologic findings. AJNR Am J Neuroradiol 14:155, 1993.
Scheinberg IH, Gitlin D: Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson’s disease). Science 116:484, 1952.
Scheinberg IH, Sternlieb I: Wilson’s Disease: Major Problems in Internal Medicine. Vol 23. Philadelphia, Saunders, 1984.
Schiffmann R, van der Knaap MS: An MRI-based approach to the diagnosis of white matter disorders. Neurology 72:750, 2009.
Schilsky ML, Scheinberg IH, Sternlieb I: Liver transplantation for Wilson’s disease: Indications and outcome. Hepatology 19:583, 2001.
Schulz A, Ajayi T, Specchio N, et al: Study of intraventricular cerliponase alfa for CLN2 disease. N Engl J Med 378:1898, 2018.
Scriver CR, Clow CL: Phenylketonuria: Epitome of human biochemical genetics. N Engl J Med 303:1335, 1980.
Seitelberger F: Pelizaeus-Merzbacher disease. In: Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology. Vol 10. Amsterdam, North-Holland, 1970, pp 150–202.
Sevin M, Lesca G, Baumann N, et al: The adult for of Niemann-Pick disease type C. Brain I130:120, 2007.
Shih VE, Abrams IF, Johnson JL, et al: Sulfite oxidase deficiency.
N Engl J Med 297:1022, 1977.
Shih VE, Safran AP, Ropper AH, Tuchman M: Ornithine carbamoyl transferase deficiency: Unusual clinical findings and novel mutation. J Inherit Metab Dis 22:672, 1999.
Shuman RM, Leech RW, Scott CR: The neuropathology of the nonketotic and ketotic hyperglycinemias: Three cases. Neurology 28:139, 1978.
Shy GM, Gonatas NK, Perez M: Two childhood myopathies with abnormal mitochondria: I. Megaconial myopathy. II. Pleoconial myopathy. Brain 89:133, 1966.
Siemerling E, Creutzfeldt HG: Bronzekrankheit und sklerosierende encephalomyelitis (diffuse sklerose). Arch Psychiatr
Nervenkr 68:217, 1923.