All individuals with variants in gene SLC25A13

12 entries on 1 page. Showing entries 1 - 12.
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00000552 Yuan-Zong Song et al.(2013) M Malaysia - - - - CTLN2 - 1 1 Nur Aisyah Athirah
00000663 Hock Lock Ngu et al.(2010) F Malaysia Malay - - - NICCD birth weight: 2.3kg, jaundiced with pale-coloured stools and had a mild hepatosplenomegaly. Liver function test revealed conjugated hyperbilirubinemia and evidence of liver dysfunction. 1 1 Nur Aisyah Athirah
00000664 Hock Lock Ngu et al.(2010) F Malaysia Malay - - - NICCD birth weight: 2.1kg, jaundiced with pale stools, failure to thrive and a mild hepatosplenomegaly, had hypokalemia, hypophosphatemia and metabolic acidosis with normal anion gap. Hepatic sonography showed features of fatty liver but normal biliary tract. Hepatic biopsy showed generalized macrovesicular steatosis, bile stasis, and the portal tract was infiltrated by lymphocytes 1 1 Nur Aisyah Athirah
00000665 Hock Lock Ngu et al.(2010) M Malaysia Malay - - - NICCD birth weight: 2.5kg. Laboratory tests revealed conjugated hyperbilirubinemia. Total blood galactose was elevated seven times from normal but normalized at the age of 3 month. 2 1 Nur Aisyah Athirah
00000705 Hui Bein Chew et al.(2010) M Malaysia Chinese - - - NICCD Birth weight: 2.5kg, physiological jaundice at 3 weeks, Failure to thrive, Hepatomegaly, Splenomegaly. 1 1 Nur Aisyah Athirah
00000706 Hui Bein Chew et al.(2010) F Malaysia Malay - - - NICCD Birth weight: 2.3kg, jaundice at 8 weeks, Failure to thrive, Hepatomegaly, Splenomegaly. 1 1 Nur Aisyah Athirah
00000707 Hui Bein Chew et al.(2010) M Malaysia Chinese - - - NICCD Birth weight: 2.46kg, cholestatic jaundice at 8 weeks, Mild delay in development 1 1 Nur Aisyah Athirah
00000708 Hui Bein Chew et al.(2010) F Malaysia Chinese - - - NICCD Birth weight: 2.95kg, transient neonatal physiological jaundice at 8 weeks, Failure to thrive 1 1 Nur Aisyah Athirah
00000709 Hui Bein Chew et al.(2010) F Malaysia Malay - - - NICCD Birth weight: 2.1kg, cholestatic jaundice at 20 weeks, Failure to thrive, Hepatomegaly, Splenomegaly. 1 1 Nur Aisyah Athirah
00000710 Hui Bein Chew et al.(2010) M Malaysia Malay - - - NICCD Birth weight: 2.5kg, physiological jaundice at 8 weeks 2 1 Nur Aisyah Athirah
00000711 Hui Bein Chew et al.(2010) M Malaysia Chinese - - - NICCD Birth weight: 2.6kg, prolonged cholestatic jaundice at 8 weeks, Hepatomegaly 2 1 Nur Aisyah Athirah
00000712 Hui Bein Chew et al.(2010) F Malaysia Malay - - - NICCD Birth weight: 2.5kg, prolonged cholestatic jaundice at 4 weeks, Hepatomegaly. 1 1 Nur Aisyah Athirah
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