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Showing articles 0 to 34 of 34

Filter Applied: hepatosplenomegaly (Click to remove)

Ocular Complications of Tangier Disease
Am J Med 83:991-994, Pressley,T.A.,et al, 1987

Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992

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

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

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 from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996

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

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

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

Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025

Babesiosis: Clinical Manifgestations and Diagnosis
www.UptoDate.com, Oct, Krause,P.J. & Vannier,E.G., 2022

Hepatitis Associated with Mycoplasma Pneumoniae Infection in Korean Children:A Prospective Study
Korean J Pediatr 58:211-217, Kim,K.W.,et al, 2015

Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 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

Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010

Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003

A Tourist With Dengue Fever and Visual Loss
Lancet 360:1070, Haritoglou,C.,et al, 2002

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

Carbamazepine Hypersensitivity Syndrome:Report of 4 Cases & Review of Literature
Medicine 74:144-151, DeVriese,A.S.P.,et al, 1995

Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995

Neimann-Pick Disease Type C in a Middle-Aged Woman
Neurol 43:1435-1436, Lanska,D.J.&Lanska,M.J., 1993

Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991

Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989

Clin. Path. Conference
Osteopetrosis, Malignant Juvenile Form, Case Record 37-1982, NEJM 307:735-74382., , 1982

Eosinophilic Polymyositis
Ann Neurol 1:65, Layzer,R.B.,et al, 1977

The Natural History of SLE by Prospective Analysis
Medicine 50:85, Estes,D.,et al, 1971

Neurologic Syndrome Associated With Primary Thrombocythemia
J Mt Siami Hosp 36:317-323, Korenman,G., 1969



Showing articles 0 to 34 of 34