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Showing articles 0 to 26 of 26

Filter Applied: genetic neurologic disorders (Click to remove)

Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015

Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014

Coma in a Young Anorexic Woman
Lancet 357:1944, Blans,M.J.,et al, 2001

Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
DiPasquale. G. , et al, Stroke 20:1403-14069., , 1989

Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988

Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
Ann Neurol 21:230-231, 232-2391987., Rizzo,W.B.,et al, 1987

A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
Ann Neurol 21:230-231, 240-2491987., Moser,A.B.,et al, 1987

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

Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983

Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
(Ed) 5th Ed. , McGraw-Hill, New York, p. 766, Stanbury,J.B., 1983

Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982

Biochemical Genetics Of Neurologic Disease
NEJM 305:1181-1193, Rosenberg,R.N., 1981

Low Activities of the Pyruvate & Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's Ataxia
NEJM 295:62, Blass,J.P.,et al, 1976

Infantile Metachromatic Leukodystrophy
NEJM 288:1365, 14051973., Leroy,J.,et al, 1973

Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973

Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972

Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
(Ed) 4th Ed, The C. V. Mosby Co, St. Louis, p. 583, McKusick,V.A., 1972

The Mucopolysaccharidoses
(Ed) , 4th Edition, the C. V. Mosby Co, 1971, Chp. 11, p. p. 521-686., McKusick,V.A., 1971

Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970

Hunter's Syndrome, In Recognizable Patterns Of Human Malformation, Genetic, Embryologic, & Clinical Aspects, by Smith
W. B. , Saunders Co. , 1970, 248-249., David,W., 1970

Inherited Aminoacidopathies Demonstrating Vitamin Dependency
NEJM 281:145, Rosenberg,L., 1965

Morquio's Disease, A Radiologic & Morphologic Study
Pediatrics 34:839-850, Schenk,E.A.&Haggerty,J., 1964

Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962



Showing articles 0 to 26 of 26