Anna Onopiuk, Andrzej Półtorak and Agnieszka Wierzbicka
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3. Kishnani PS, Austin SL, Arn P et al
Glycogen storage disease type Ia (GSD1A; MIM: 232200) is an autosomal recessive disorder that is caused by deficient glucose-6-phosphatase (G6Pase) activity [ 1 ]. Hypoglycemia, lactatemia, hyperuricemia, hyperlipidemia, and marked hepatomegaly are the leading features of this inborn error of metabolism [ 2 ]. Up to now, over 100 mutations have been identified in the G6PC gene [ 3 ]. Here we present a case with a novel homozygous missense mutation c. 137T>G/p.Leu46Arg in the G6PC gene leading to GSD1A clinical findings.
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Ayodele Olufemi Morakinyo, Bolanle Olubusola Iranloye and Oluseyi Abimbola Ogunsola
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Elżbieta Łopieńska–Biernat, Małgorzata Dmitryjuk, Ewa Zaobidna, Zbigniew Lipiński and Krystyna Żółtowska
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4. Huang L
range of metabolic risk factors exceeding, or at least matching, those of HCLF diets.
A less well explored question is whether LCHF diets may exert beneficial effects on exercise and athletic performance. Despite the concept that eating a LCHF diet goes counter the traditional view that athletes require high-carbohydrate intake to maintain sufficient muscle glycogen for high-intensity and endurance performance, the efficacy of LCHF diets has been explored in various sports. There is emerging scientific evidence that LCHF diets at least maintain, if not enhance