Ocular Complications of Tangier Disease
Am J Med 83:991-994, Pressley,T.A.,et al, 1987
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014
A Tourist With Dengue Fever and Visual Loss
Lancet 360:1070, Haritoglou,C.,et al, 2002
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Neurologic Manifestations of SLE 1972
Nebraska State Journ Med, Oct 1972, pp 395., Aita,J., 1972
Babesiosis: Clinical Manifgestations and Diagnosis
www.UptoDate.com, Oct, Krause,P.J. & Vannier,E.G., 2022
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014
Chediak-Higashi Syndrome: Pathognomonic Feature
Lancet 382:1514, Antunes, H.,et al, 2013
Cogan Syndrome
www.medlink.com, Feb, Ramachandran, T.S., 2010
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
An Emotional 13-Year Old Girl
Lancet 348:1000, Kanabar,D.J.,et al, 1996
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985
Clin. Path. Conference
Osteopetrosis, Malignant Juvenile Form, Case Record 37-1982, NEJM 307:735-74382., , 1982
Familial Psychosis & Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
Arch Neurol 36:95-99, Neil,J.F.,et al, 1979
Hydrocephalus Caused by Increased Intracranial Venous Pressure:A Clinicopathological Study
Ann Neurol 3:445, Rosman,N.P.,et al, 1978
Eosinophilic Polymyositis
Ann Neurol 1:65, Layzer,R.B.,et al, 1977
Neurological Complications of Infantile Osteopetrosis
Ann Neurol 2:378, Lehman,R.A.W.,et al, 1977
The Mucopolysaccharidoses
(Ed) , 4th Edition, the C. V. Mosby Co, 1971, Chp. 11, p. p. 521-686., McKusick,V.A., 1971
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