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Showing articles 0 to 13 of 13

Filter Applied: lipid storage disorder of CNS (Click to remove)

Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014

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

Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017

Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
Orphanet J Rare Dis 12:166, Heitz, C., et al, 2017

Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,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:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993

Amaurotic Family Idiocy
Am J Dis Child 142:53-56, Abt,I.A., 1988

The Cherry-Red Spot in Tay-Sachs & Other Storage Diseases
Ann Neurol 17:356-360, Kivlin,J.D.,et al, 1985

Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979

Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
Ann Neurol 6:232-244, Miyatake,T.,et al, 1979

Chronic Hexosaminidase A & B Deficiency
et al. , Ann Neurol 2:156977., Goldie,W.D., 1977

Tay-Sachs Disease-The Use of Tears for the Detection of Heterozygotes
NEJM 289:1072, Carmody,P.,et al, 1973



Showing articles 0 to 13 of 13