Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Chediak-Higashi Syndrome: Pathognomonic Feature
Lancet 382:1514, Antunes, H.,et al, 2013
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Cerebral Thrombosis in B-Thalassemia/Hemoglobin E Disease
Stroke 21:812-816, Wong,V.,et al, 1990
Neurologic Syndrome Associated With Primary Thrombocythemia
J Mt Siami Hosp 36:317-323, Korenman,G., 1969
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
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
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
POEMS Syndrome Associated with Ischemic Stroke
Arch Neurol 60:745-749, Kang, K.,et al, 2003
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,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
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
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
Neurologic Manifestations in Sarcoidosis
Ann Int Med 87:336, Delaney,P., 1977
Neurologic Manifestations of SLE 1972
Nebraska State Journ Med, Oct 1972, pp 395., Aita,J., 1972
Candida Endocarditis-Clinical & Pathologic Studies
Am J Med 32:251-285, 1962, Andriole,V.T.,et al, 1962
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Hepatitis Associated with Mycoplasma Pneumoniae Infection in Korean Children:A Prospective Study
Korean J Pediatr 58:211-217, Kim,K.W.,et al, 2015
A Tourist With Dengue Fever and Visual Loss
Lancet 360:1070, Haritoglou,C.,et al, 2002
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
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
Clinicopath. Conference
Acquired Immunodeficiency Syndrome, Rhabdomyosarcoma, with Extensive Metastases, Case 9-1986, NEJM 3, 4:620,1986., 1986