Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
Yıl: 2020 Cilt: 12 Sayı: 4 Sayfa Aralığı: 427 - 431 Metin Dili: İngilizce DOI: 10.4274/jcrpe.galenos.2019.2019.0144 İndeks Tarihi: 17-05-2021
Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
Öz: Abetalipoproteinaemia (ABL) is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesteroland triglyceride (TG). It results from mutations in the gene encoding microsomal TG transfer protein (MTTP). A nine-month-old girl wasadmitted to hospital because of fever, cough, diarrhea and failure to thrive. She had low cholesterol and TG levels according to her age.The peripheral blood smear revealed acanthocytosis. Thyroid function test showed central hypothyroidism. Cranial magnetic resonanceimaging revealed the retardation of myelination and pituitary gland height was 1.7 mm. A homozygous novel mutation [c.506A>T(p.D169V)] was detected in the MTTP gene. Vitamins A, D, E, and K and levothyroxine were started. The coexistence of ABL and centralhypothyroidism has not previously been reported. A homozygous novel mutation [c.506A>T (p.D169V)] was detected in the MTTP gene
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| APA | Soylu Ustkoyuncu P, Gökay S, Eren E, doğan d, yıldız g, YILMAZ A, Mutlu F (2020). Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. , 427 - 431. 10.4274/jcrpe.galenos.2019.2019.0144 |
| Chicago | Soylu Ustkoyuncu Pembe,Gökay Songül,Eren Esra,doğan durmuş,yıldız gökçe,YILMAZ Ayşegül,Mutlu Fatma Türkan Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. (2020): 427 - 431. 10.4274/jcrpe.galenos.2019.2019.0144 |
| MLA | Soylu Ustkoyuncu Pembe,Gökay Songül,Eren Esra,doğan durmuş,yıldız gökçe,YILMAZ Ayşegül,Mutlu Fatma Türkan Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. , 2020, ss.427 - 431. 10.4274/jcrpe.galenos.2019.2019.0144 |
| AMA | Soylu Ustkoyuncu P,Gökay S,Eren E,doğan d,yıldız g,YILMAZ A,Mutlu F Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. . 2020; 427 - 431. 10.4274/jcrpe.galenos.2019.2019.0144 |
| Vancouver | Soylu Ustkoyuncu P,Gökay S,Eren E,doğan d,yıldız g,YILMAZ A,Mutlu F Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. . 2020; 427 - 431. 10.4274/jcrpe.galenos.2019.2019.0144 |
| IEEE | Soylu Ustkoyuncu P,Gökay S,Eren E,doğan d,yıldız g,YILMAZ A,Mutlu F "Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism." , ss.427 - 431, 2020. 10.4274/jcrpe.galenos.2019.2019.0144 |
| ISNAD | Soylu Ustkoyuncu, Pembe vd. "Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism". (2020), 427-431. https://doi.org/10.4274/jcrpe.galenos.2019.2019.0144 |
| APA | Soylu Ustkoyuncu P, Gökay S, Eren E, doğan d, yıldız g, YILMAZ A, Mutlu F (2020). Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. Journal of Clinical Research in Pediatric Endocrinology, 12(4), 427 - 431. 10.4274/jcrpe.galenos.2019.2019.0144 |
| Chicago | Soylu Ustkoyuncu Pembe,Gökay Songül,Eren Esra,doğan durmuş,yıldız gökçe,YILMAZ Ayşegül,Mutlu Fatma Türkan Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. Journal of Clinical Research in Pediatric Endocrinology 12, no.4 (2020): 427 - 431. 10.4274/jcrpe.galenos.2019.2019.0144 |
| MLA | Soylu Ustkoyuncu Pembe,Gökay Songül,Eren Esra,doğan durmuş,yıldız gökçe,YILMAZ Ayşegül,Mutlu Fatma Türkan Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. Journal of Clinical Research in Pediatric Endocrinology, vol.12, no.4, 2020, ss.427 - 431. 10.4274/jcrpe.galenos.2019.2019.0144 |
| AMA | Soylu Ustkoyuncu P,Gökay S,Eren E,doğan d,yıldız g,YILMAZ A,Mutlu F Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. Journal of Clinical Research in Pediatric Endocrinology. 2020; 12(4): 427 - 431. 10.4274/jcrpe.galenos.2019.2019.0144 |
| Vancouver | Soylu Ustkoyuncu P,Gökay S,Eren E,doğan d,yıldız g,YILMAZ A,Mutlu F Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. Journal of Clinical Research in Pediatric Endocrinology. 2020; 12(4): 427 - 431. 10.4274/jcrpe.galenos.2019.2019.0144 |
| IEEE | Soylu Ustkoyuncu P,Gökay S,Eren E,doğan d,yıldız g,YILMAZ A,Mutlu F "Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism." Journal of Clinical Research in Pediatric Endocrinology, 12, ss.427 - 431, 2020. 10.4274/jcrpe.galenos.2019.2019.0144 |
| ISNAD | Soylu Ustkoyuncu, Pembe vd. "Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism". Journal of Clinical Research in Pediatric Endocrinology 12/4 (2020), 427-431. https://doi.org/10.4274/jcrpe.galenos.2019.2019.0144 |
