Peripheral Neuropathy Associated with Mitochondrial Myopathy
Ann Neurol 20:249-257, Yiannikas,C.,et al, 1986
Clinicopath Conf
Myopathy Due to Adult Acid Maltase Deficiency, 36-1986, NEJM 315:694-701986., , 1986
Bilateral Lucency of the Globus Pallidus Complicating Methylmalonic Acidemia
Ann Neurol 20:364-366, Korf,B.,et al, 1986
Ornithine Transcarbamylase Deficiency-A Cause of Bizarre Behavior in a Man
NEJM 315:744-747, DiMagno,E.P.,et al, 1986
Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986
Enzyme Replacement in Nervous Tissue After Allogeneic Bone-Marrow Transplantation for Fucosidoisis in Dogs
Lancet 2:772-774, Taylor,R.M.,et al, 1986
Progressive Myoclonus Epilepsies:Specific Causes & Diagnosis
NEJM 315:296-305, Berkovic,S.F.,et al, 1986
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985
Reversible Myopathy Secondary to Abuse of Ipecac in Patients with Major Eating Disorders
NEJM 313:1457-1459, Palmer,E.P.&Guay,A.T., 1985
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
D-Lactate Encephalopathy
Am J Med 79:717-721, Thurn,J.R.,et al, 1985
Clin. Path. Conference
External Ophthalmoplegia with Mitochondrial Myopathy, Case Record 3-1985, NEJM 312:171-177985., , 1985
Hallervorden-Spatz Disease:Cysteine Accumulation & Cysteine Dioxygenase Deficiency in the Globus Palladus
Ann Neurol 18:482-489, Perry,T.L.,et al, 1985
Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
NEJM 313:16-19, 43-441985., Wolf,B.,et al, 1985
Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985
Reversible Ipecac Myopathy
Arch Neurol 42:188-190, Mateer,J.E.,et al, 1985
McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985
Pentazocine Abuse Masquerading as Familial Myopathy
Neurol 34:524-527, Choucair,A.K.,et al, 1984
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
Mitochondrial Encephalomyopathy:Fluctuating Symptoms & CT
Neurol 34:1456-1460, Yamamoto,T.,et al, 1984
Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
Ann Neurol 15:144-153, Plaitakis,A.,et al, 1984
Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
Treatment of Episodic Hyperammonemia in Children with Inborn Errors of Urea Synthesis
NEJM 310:1630-1634, Brushlow,S.W.,et al, 1984
Cerebellar Hemorrhage Complication Methylmalonic & Propionic Acidemia
Arch Neurol 41:1293-1296, Dave,P.,et al, 1984
Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984
Detection of Urea Cycle Enzymopathies in Childhood
Arch Neurol 41:758-760, Trauner,D.A.,et al, 1984
Nearly Fatal Muscle Carnitine Deficiency with Full Recovery after Replacement Therapy
Neurol 33:1629-1631, Prockop,L.D.,et al, 1983
Visual Evoked Potentials in the Detection of Subclinical Optic Toxic Effects Secondary to Ethambutol
Arch Neurol 40:645-648, Yiannikas,C.,et al, 1983
Lafora Disease:Liver Histopathology in Presymptomatic Children
Ann Neurol 14:86-89, Baumann,R.J.,et al, 1983
Carpal Tunnel Syndrome, Complication of Toxic Shock Syndrome
Arch Neurol 40:414-415, Sahs,A.L.,et al, 1983
Myopathy & Hypersensitivity to Phenytoin
Neurol 33:790-791, Harney,J.,et al, 1983
Acute Cocaine Poisoning
Am J Med 75:1061-1064, Jonsson,S.,et al, 1983
Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982
Ophthalmoscopy of the Retinal Nerve Fiber Layer
Arch Neurol 39:226-233, Newman,N.M.,et al, 1982
Methanol Optic Neuropathy:A Histopathological Study
Neurol 32:1093-1100, Sharpe,J.A.,et al, 1982
Transient Myopathy Apparently Due to Tetracycline
NEJM 307:821-822, Sinclair,D.,et al, 1982
Myopathy Due to Mercaptopropionyl Glycine
BMJ 285:939, Hales,D.S.M.,et al, 1982
Chlorpropamide-Induced Optic Neuropathy
Arch Int Med 142:381, Wymore,J.,et al, 1982
Necrotizing Myopathy Associated with Steroid Therapy, Report of Two Cases
Pathology 14:435-438, Ojeda,V.J., 1982
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
Toxic Optic Neuropathy Caused by Benoxaprofen
BMJ 283:193-194, Dodd,M.J.,et al, 1981
Brainstem Auditory Evoked Response in the Diagnosis of Pediatric Neurologic Diseases
Neurol 31:832-840, Hecox,K.E.,et al, 1981
Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Lesch-Nyhan Syndrome
NEJM 305:1106-1111, Lloyd,K.G.,et al, 1981
Labetalol-induced Toxic Myopathy
BMJ 282:1824-1825, Teicher,A.,et al, 1981
Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
Am J Med 69:64-74, Whythe,M.P.,et al, 1980
Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
NEJM 303:377-380, Hirschhorn,R.,et al, 1980
Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
Ann Neurol 7:450-456, Steinman,L.,et al, 1980