Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes-Reference-Cited by-同舟云学术

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

Published:2016 Issue: Volume: Page:57-62
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Anastasio Natascia,Tarailo-Graovac Maja,Al-Khalifah Reem,Legault Laurent,Drogemoller Britt,Ross Colin J.D.,Wasserman Wyeth W.,van Karnebeek Clara,Buhas Daniela

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2016_557

Reference16 articles.

1. Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet Jonathan Haines Al. Chapter 7:Unit7.20. doi: 10.1002/0471142905.hg0720s76

2. Choi Y, Sims GE, Murphy S et al (2012) Predicting the functional effect of amino acid substitutions and indels. PLoS One 7, e46688. doi: 10.1371/journal.pone.0046688

3. Cingolani P, Platts A, Wang LL et al (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) 6(2):80–92

4. Concepcion JP, Reh CS, Daniels M et al (2014) Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. Pediatr Diabetes 15(1):67–72. doi: 10.1111/pedi.12063

5. Duclaux-Loras R, Collardeau-Frachon S, Nancey S et al (2015) Long-term disease course in a patient with severe neonatal IPEX syndrome. Clin Res Hepatol Gastroenterol 39(4):e43–e47. doi: 10.1016/j.clinre.2015.03.006

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