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Showing articles 0 to 37 of 37

Filter Applied: hepatosplenomegaly (Click to remove)

Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996

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

Histoplasma Capsulatum Infections of the Central Nervous System
Medicine 69:244-260, Wheat,L.J.,et al, 1990

Clinicopath Conf (Juvenile) Periarteritis Nodosa (Kawasaki Syndrome)
with Involvement of Subcutaneous ( & Cerebral) Arteries, Case 43-1986, NEJM 315:1143-1154, , 1986

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

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

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

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

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

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

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

Plasma Cell Dyscrasia with Polyneuropathy, Organomegaly, Endocrinopathy, M Protein, & Skin Changes:The POEMS Syndrome
Medicine 59:311-322, Bardwick,P.A., 1980

Neurologic Manifestations of SLE 1972
Nebraska State Journ Med, Oct 1972, pp 395., Aita,J., 1972

Clinicopathologic Conference, Disseminated Mycobacterium Bovis Infection
NEJM 384:651-662, Case 5-2021, 2021

Griscelli Syndrome and CNS Lymphohistiocytosis
Neurol 82:e122-e123, Saini, A.G.,et al, 2014

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

An Emotional 13-Year Old Girl
Lancet 348:1000, Kanabar,D.J.,et al, 1996

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

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

Cerebral Thrombosis in B-Thalassemia/Hemoglobin E Disease
Stroke 21:812-816, Wong,V.,et al, 1990

Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990

Human Leptospirosis-A Review of 50 Cases
Infection 17:10-14, Lecour,H.,et al, 1989

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

Polyneuropathy in Waldenstrom's Macroglobulinemia
Arch Neurol 35:423, Julien,J.,et al, 1978

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

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 37 of 37