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• W2004066443 abstract "The lipoprotein lipase coding gene sequence was analysed on a 10-year-old girl with new-onset Type 1 diabetes mellitus (DM), ketoacidosis and severe hypertriglyceridaemia (TG > 112.9 mmol/l), revealing that the patient was a compound heterozygote for two mutations, D9N in exon 2 and S447X in exon 9. Although these two mutations usually do not considerably impair lipolytic enzyme activity, the combination of both in this patient may play a role in the development of severe hypertriglyceridaemia." @default.
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• W2004066443 date "2004-04-01" @default.
• W2004066443 modified "2023-09-27" @default.
• W2004066443 title "Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study" @default.
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• W2004066443 doi "https://doi.org/10.1111/j.1464-5491.2004.1111.x" @default.
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