A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
Neurol 102:e209190, Cheng,Y. & Zachariah,J., 2024
Acid Maltase Deficiency
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 960, Ropper, A.H.,et al, 2014
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Frequently Missed Diagnosis?
Neurol 67:1519, Koppel,S.,et al, 2006
Inborn Errors of Urea Synthesis
Ann Neurol 35:133-141, Batshaw,M.L., 1994
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Cerebellar Hemorrhage Complication Methylmalonic & Propionic Acidemia
Arch Neurol 41:1293-1296, Dave,P.,et al, 1984