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Filter Applied: hepatosplenomegaly (Click to remove)

A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992

Hydrocephalus Caused by Increased Intracranial Venous Pressure:A Clinicopathological Study
Ann Neurol 3:445, Rosman,N.P.,et al, 1978

Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014

Neuro CPC of MGH
Congenital Toxoplasmosis Involving CNS, NEJM 269:369-3741963., , 1963

Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026

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, Infantile Niemann-Pick Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,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

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

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

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

GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985

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

Progressive Rubella Encephalitis
NEJM 292:990-993, 994-998, 1023-1024975., Townsend,J.J., 1975

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



Showing articles 0 to 29 of 29