A novel homozygous mutation in the Glycerol-3-Phosphate Dehydrogenase 1 gene combined with a heterozygous mutation in the Glucokinase Regulator gene associated with hyperglycaemia, hypertriglyceridaemia and non-alcoholic fatty liver in a 17 year old woman

Avrami G, Drasdo M, Neuber S, Jorch N, Hamelmann E (2022)
Hormone Research in Paediatrics 95(SUPPL 2): 181.

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Autor*in
Erscheinungsjahr
2022
Serien- oder Zeitschriftentitel
Hormone Research in Paediatrics
Band
95
Ausgabe
SUPPL 2
Seite(n)
181
Konferenz
60th Annual European Society for Paediatric Endocrinology
Konferenzort
Rome, Italy
Konferenzdatum
2022-09-15 – 2022-09-17
ISSN
1663-2818
eISSN
1663-2826
Page URI
https://pub.uni-bielefeld.de/record/2966344

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Avrami G, Drasdo M, Neuber S, Jorch N, Hamelmann E. A novel homozygous mutation in the Glycerol-3-Phosphate Dehydrogenase 1 gene combined with a heterozygous mutation in the Glucokinase Regulator gene associated with hyperglycaemia, hypertriglyceridaemia and non-alcoholic fatty liver in a 17 year old woman. Hormone Research in Paediatrics . 2022;95(SUPPL 2):181.
Avrami, G., Drasdo, M., Neuber, S., Jorch, N., & Hamelmann, E. (2022). A novel homozygous mutation in the Glycerol-3-Phosphate Dehydrogenase 1 gene combined with a heterozygous mutation in the Glucokinase Regulator gene associated with hyperglycaemia, hypertriglyceridaemia and non-alcoholic fatty liver in a 17 year old woman. Hormone Research in Paediatrics , 95(SUPPL 2), 181.
Avrami, Georgia, Drasdo, Mojgan, Neuber, Steffen, Jorch, Norbert, and Hamelmann, Eckard. 2022. “A novel homozygous mutation in the Glycerol-3-Phosphate Dehydrogenase 1 gene combined with a heterozygous mutation in the Glucokinase Regulator gene associated with hyperglycaemia, hypertriglyceridaemia and non-alcoholic fatty liver in a 17 year old woman”, Hormone Research in Paediatrics , 95 (SUPPL 2): 181.
Avrami, G., Drasdo, M., Neuber, S., Jorch, N., and Hamelmann, E. (2022). A novel homozygous mutation in the Glycerol-3-Phosphate Dehydrogenase 1 gene combined with a heterozygous mutation in the Glucokinase Regulator gene associated with hyperglycaemia, hypertriglyceridaemia and non-alcoholic fatty liver in a 17 year old woman. Hormone Research in Paediatrics 95, 181.
Avrami, G., et al., 2022. A novel homozygous mutation in the Glycerol-3-Phosphate Dehydrogenase 1 gene combined with a heterozygous mutation in the Glucokinase Regulator gene associated with hyperglycaemia, hypertriglyceridaemia and non-alcoholic fatty liver in a 17 year old woman. Hormone Research in Paediatrics , 95(SUPPL 2), p 181.
G. Avrami, et al., “A novel homozygous mutation in the Glycerol-3-Phosphate Dehydrogenase 1 gene combined with a heterozygous mutation in the Glucokinase Regulator gene associated with hyperglycaemia, hypertriglyceridaemia and non-alcoholic fatty liver in a 17 year old woman”, Hormone Research in Paediatrics , vol. 95, 2022, pp. 181.
Avrami, G., Drasdo, M., Neuber, S., Jorch, N., Hamelmann, E.: A novel homozygous mutation in the Glycerol-3-Phosphate Dehydrogenase 1 gene combined with a heterozygous mutation in the Glucokinase Regulator gene associated with hyperglycaemia, hypertriglyceridaemia and non-alcoholic fatty liver in a 17 year old woman. Hormone Research in Paediatrics . 95, 181 (2022).
Avrami, Georgia, Drasdo, Mojgan, Neuber, Steffen, Jorch, Norbert, and Hamelmann, Eckard. “A novel homozygous mutation in the Glycerol-3-Phosphate Dehydrogenase 1 gene combined with a heterozygous mutation in the Glucokinase Regulator gene associated with hyperglycaemia, hypertriglyceridaemia and non-alcoholic fatty liver in a 17 year old woman”. Hormone Research in Paediatrics 95.SUPPL 2 (2022): 181.
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