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- etimología
Qué (quién) es L1 syndrome - definición
L1 syndrome
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MEDICAL CONDITION
Corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus; CRASH syndrome; L1CAM syndrome; Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
L1 (protein)
MAMMALIAN PROTEIN FOUND IN HOMO SAPIENS
L1 CAM; L1CAM; CD171; L1CAM (gene)
L1, also known as L1CAM, is a transmembrane protein member of the L1 protein family, encoded by the L1CAM gene. This protein, of 200-220 kDa, is a neuronal cell adhesion molecule with a strong implication in cell migration, adhesion, neurite outgrowth, myelination and neuronal differentiation.
Reye's syndrome
SYNDROME CHARACTERIZED BY ACUTE BRAIN DAMAGE AND LIVER FUNCTION PROBLEMS
Reyes Syndrome; Reye Syndrome; Reye's Syndrome; Reyes syndrome; Reye’s Syndrome; Reye hepatocerebral syndrome; Rye syndrome; Reye s syndrome; Reye's s syndrome; Reye's syndrome; Reye’s syndrome
['re?z, 'r??z]
¦ noun a life-threatening metabolic disorder in young children, of uncertain cause.
Origin
1960s: named after the Australian paediatrician Ralph D. K. Reye.
