Refsum Disease | Harvard Catalyst Profiles | Harvard Catalyst
Genetic Diseases, Inborn [C16.320]. *Heredodegenerative Disorders, Nervous System [C16.320.400]. *Hereditary Sensory and Motor ... Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr. 1995 Jul; 127(1):13 ... Peroxisomal disorders: clinical commentary and future prospects. Am J Med Genet. 1988 Jul; 30(3):771-92. ... Attenuated prostaglandin formation in peroxisomal-deficient human skin fibroblasts. J Clin Invest. 1993 Jul; 92(1):169-78. ...
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency - PubMed
... deficiency is a rare disorder of fatty acid metabolism which has recently been described in three adult cases. We have ... identified a further patient with clinical features of a relapsing encephalopathy, seizures and cognitive decline over a 40 ... Heredodegenerative Disorders, Nervous System / diagnosis* Actions. * Search in PubMed * Search in MeSH ... Peroxisomal Disorders: A Review on Cerebellar Pathologies. De Munter S, Verheijden S, Régal L, Baes M. De Munter S, et al. ...
MESH TREE NUMBER CHANGES - 2002 MeSH
C16.320.400.415 Heredodegenerative Disorders, Nervous System C16.466.400 C16.320.400 Hermanski-Pudlak Syndrome C11.270.55.400 ... D5.569.540.815.249 Peroxisomal Disorders C10.228.140.163.474.649 C10.228.140.163.100.680 C18.452.125.250.700 C16.320.565.150. ... Genetic C16.320.850 Skin Diseases, Metabolic C18.452.872 Smith-Lemli-Opitz Syndrome C16.320.565.556.850 Social Justice K1.316. ... B4.909.204.671.650.600.660 Patient Advocacy I1.880.604.473.600 I1.880.604.473.650.937 N3.706.437.600 N3.706.437.650.500 Peanuts ...