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In most of the families with more than one person affected, the clinical picture is very similar. Intrafamilial variation has been reported in the lysosomal storage diseases related or not related to genetic heterogeneity. In families in which different affected persons have the same genotype, as in X\u2010linked disorders, or autosomal recessive diseases in which both parents of the affected sibs are carriers and healthy, the variability must be due to factors not related to the genotype. On the other hand, when different mutations are present in the same family, the variability may be related to the differences in the genotype of the affected persons. Knowledge of the possibility of intrafamilial variability and its genetic basis is essential in clinical and prenatal diagnosis of the lysosomal storage diseases.<\/jats:p>","DOI":"10.1002\/ajmg.1320270316","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:57:20Z","timestamp":1118545040000},"page":"633-638","source":"Crossref","is-referenced-by-count":9,"title":["Intrafamilial variability in lysosomal storage diseases"],"prefix":"10.1002","volume":"27","author":[{"given":"Jo\u00ebl","family":"Zlotogora","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00832.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410160105"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(83)91816-8"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb02080.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0163-7258(82)90072-9"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","unstructured":"ChangPL DavidsonRG(1983):Pseudo arylsulfatase\u2010A deficiency in healthy individuals: Genetic and biochemical relationship to metachromatic leukodystrophy. 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