Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
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
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991
Familial Psychosis & Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
Arch Neurol 36:95-99, Neil,J.F.,et al, 1979
Eosinophilic Polymyositis
Ann Neurol 1:65, Layzer,R.B.,et al, 1977
Neurologic Manifestations of SLE 1972
Nebraska State Journ Med, Oct 1972, pp 395., Aita,J., 1972
The Natural History of SLE by Prospective Analysis
Medicine 50:85, Estes,D.,et al, 1971
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010
Lethal African Trypanosomiasis in a Traveler: MRI and Neuropathology
Neurol 66:1094-1096,962, Braakman,H.M.H.,et al, 2006
A Tourist With Dengue Fever and Visual Loss
Lancet 360:1070, Haritoglou,C.,et al, 2002
Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998
Carbamazepine Hypersensitivity Syndrome:Report of 4 Cases & Review of Literature
Medicine 74:144-151, DeVriese,A.S.P.,et al, 1995
POEMS Syndrome:A Study of 25 Cases and a Review of the Literature
Am J Med 97:543-553, Soubrier,M.J.,et al, 1994
Clinicopath Conf
PEOMS Syndrome, Case 39-1992, NEJM 327:1014-1021992., , 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Human Leptospirosis-A Review of 50 Cases
Infection 17:10-14, Lecour,H.,et al, 1989
Clinicopath Conf (Juvenile) Periarteritis Nodosa (Kawasaki Syndrome)
with Involvement of Subcutaneous ( & Cerebral) Arteries, Case 43-1986, NEJM 315:1143-1154, , 1986
Plasma Cell Dyscrasia with Polyneuropathy, Organomegaly, Endocrinopathy, M Protein, & Skin Changes:The POEMS Syndrome
Medicine 59:311-322, Bardwick,P.A., 1980
Angioimmunoblastic Lymphadenopathy, Its Occurrence With Meningeal Involvement
Arch Neurol 37:598-599, O'Donnell,P.P.,et al, 1980
Babesiosis: Clinical Manifgestations and Diagnosis
www.UptoDate.com, Oct, Krause,P.J. & Vannier,E.G., 2022
Clinicopathologic Conference, Disseminated Mycobacterium Bovis Infection
NEJM 384:651-662, Case 5-2021, 2021
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, Infantile Niemann-Pick Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, 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:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Cerebral Thrombosis in B-Thalassemia/Hemoglobin E Disease
Stroke 21:812-816, Wong,V.,et al, 1990
Progressive Rubella Panencephalitis
In Handbk of Clin Neurol, Vinken & Bruyn, Ed, N Holland Publ Co, 56:405-416, Wolinsky,J.S., 1990
Histoplasma Capsulatum Infections of the Central Nervous System
Medicine 69:244-260, Wheat,L.J.,et al, 1990
Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990
Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989
Ocular Complications of Tangier Disease
Am J Med 83:991-994, Pressley,T.A.,et al, 1987
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985
Intravascular Malignant Histiocytosis Mimicking CNS Vasculitis:An Immunopath. Diag. Approach
Ann Neurol 12:489-492, Krieger,C.,et al, 1982
Polyneuropathy in Waldenstrom's Macroglobulinemia
Arch Neurol 35:423, Julien,J.,et al, 1978
Neurologic Manifestations in Sarcoidosis
Ann Int Med 87:336, Delaney,P., 1977
Neurological Complications of Infantile Osteopetrosis
Ann Neurol 2:378, Lehman,R.A.W.,et al, 1977
Case Records of MGH-NEJM 286:1047
1972 Progressive Multifocal Leukoencephalopathy., , 1972
Mollaret's Meningitis & Differential Diagnosis of Recurrent Meningitis
Am J Med 52:128, Hermans,P.,et al, 1972
The Mucopolysaccharidoses
(Ed) , 4th Edition, the C. V. Mosby Co, 1971, Chp. 11, p. p. 521-686., McKusick,V.A., 1971