title: [Metachromatic leukodystrophy (Scholz-Greenfield disease) associated with Lowe's syndrome with congenital glaucoma without eye enlargement. Clinical, histological and genetic study (literature review concerning these diseases). Ultrastructure of a peripheral nerve and remarks on certain therapeutic possiblities].
mesh_terms: D000015:Abnormalities, Multiple; D005128:Eye Diseases / Q000235:genetics*; D005901:Glaucoma / Q000151:congenital*; D006130:Growth Disorders; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007408:Intestinal Absorption; D007674:Kidney Diseases / Q000235:genetics*; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D008722:Methods; D010375:Pedigree; D000608:Renal Aminoacidurias; D013577:Syndrome
vernacular_title: Leucodystrophie métachromatique (Maladie de Scholz-Greenfield) associée au syndrome de Lowe avec glaucome congénital sans agrandissement des globes oculaires. Etude clinique (revue de la littérature au sujet de ces deux maladies), histochimique et génétique. Ultrastructure d'un nerf périphérique et réflexions sur certaines possibilités thérapeutiques