14800-DvRappard

147 Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy 9 MLD-6 Juvenile c.459+1G>A p.? c.1277C>T p.Pro426Leu 9 no HSCT 11 No Thickened wall and cholelithiasis MLD-62 Juvenile c.1277C>T p.Pro426Leu c.1277C>T p.Pro426Leu 9 no HSCT 27 No Sludge, infiltrated aspect gallbladder bed MLD-27 Juvenile c.251G>A p.Arg84Gln c.251G>A p.Ser96Phe 10 no HSCT 23 No Multiple polyps (maximal diameter 6mm) MLD-46 Juvenile c.1277C>T p.Pro426Leu c.1277C>T p.Pro426Leu 12 14 30 No Polyp 8mm MLD-54 Juvenile c.1277C>T p.Pro426Leu c.1277C>T p.Pro426Leu 12 no HSCT 18 No Normal gallbladder MLD-58 Juvenile c.1277C>T p.Pro426Leu c.1277C>T p.Pro426Leu 13 no HSCT 13 No Multiple polyps (maximal diameter 13mm) MLD-60 Juvenile c.251G>A p.Arg84Gln c.287C>T p.Ser96Phe 13 no HSCT 13 No Multiple polyps (maximal diameter 6mm) MLD-14 Juvenile c.1277C>T p.Pro426Leu c.1277C>T p.Pro426Leu 14 14 18 No Normal gallbladder MLD-35 Juvenile c.1277C>T p.Pro426Leu c.1277C>T p.Pro426Leu 14 no HSCT 25 No Multiple polyps (maximal diameter 4mm) MLD-61 Juvenile c.1277C>T p.Pro426Leu c.1277C>T p.Pro426Leu 21 no HSCT 21 No Thickened wall, collapsed gallbladder, possible polyps MLD-63 Adult c.1277C>T p.Pro426Leu c.1277C>T p.Pro426Leu 23 no HSCT 23 No Thickened wall, polyps (maximal diameter 6mm) MLD-21 Adult c.635C>T p.Ala212Val c.1277C>T p.Pro426Leu 17 17 20 No Multiple polyps (maximal diameter 2·3mm) MLD-30 Adult c.1277C>T p.Pro426Leu c.1277C>T p.Pro426Leu 18 19 26 No Multiple polyps (maximal diameter 10mm) MLD-49 Adult c.1189C>T p.His397Tyr c.1277C>T p.Pro426Leu 20 22 32 Colic-like pain Dilatation of hepatic bile ducts MLD-25 Adult c.1194C>T p.Phe398Phe c.1194C>T p.Phe398Phe 22 no HSCT 29 No Normal gallbladder MLD-41 Adult c.459+1G>A p.? c.536T>G p.Ile179Ser 25 25 26 Pancreatitis Normal gallbladder MLD-2 Adult c.251G>A p.Arg84Gln c.287C>T p.Ser96Phe 27 28 33 No Thickened wall, collapsed gallbladder, possible polyps MLD-32 Adult c.536T>G p.Ile170Ser c.1171A>G p.Ser391Gly 30 no HSCT 32 No Normal gallbladder MLD-15 Adult c.251G>A p.Arg84Gln c.287C>T p.Ser96Phe 35 35 39 No Thickened and uneven wall, possible polyps