Results 1 -
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pediatrics
- The MAP2K1 gene provides instructions for making a protein known as MEK1 protein kinase. This protein is part of a signaling pathway called the RAS/MAPK ...
- ... clinical presentation and follow-up of 50 patients. Pediatrics. 2002 Jan;109(1):99-104. doi: 10. ... Shapiro S, Strauss AW. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated ...
- ... citrin deficiency: five-year experience in a Chinese pediatric center. Int J Mol Med. 2011 Jul;28( ... patients, and the mutation distribution in a large pediatric cohort in China. PLoS One. 2013 Sep 19; ...
- ... hydroxylase and implications toward understanding and treating phenylketonuria. Pediatrics. 2003 Dec;112(6 Pt 2):1557-65. ... the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Pediatrics. 2003 Dec;112(6 Pt 2):1530-3. ...
- ... Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. doi: 10. ... alleles associated with Langerhans cell histiocytosis, a granulomatous pediatric disease. PLoS One. 2012;7(4):e33891. doi: ...
- ... L, von Mehren M. Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. Front Oncol. 2013 ... M, Lai AH, Kelly L, Hornick JL; NIH Pediatric and Wild-Type GIST Clinic; O'Sullivan M, ...
- ... L, von Mehren M. Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. Front Oncol. 2013 ... M, Lai AH, Kelly L, Hornick JL; NIH Pediatric and Wild-Type GIST Clinic; O'Sullivan M, ...
- ... a novel mutation and review of the literature. Pediatrics. 2005 Sep;116(3):757-66. doi: 10.1542/peds.2004-1897. Erratum In: Pediatrics. 2005 Dec;116(6):1615. Citation on PubMed ...
- ... L, von Mehren M. Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. Front Oncol. 2013 ... M, Lai AH, Kelly L, Hornick JL; NIH Pediatric and Wild-Type GIST Clinic; O'Sullivan M, ...
- ... L, von Mehren M. Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. Front Oncol. 2013 ... M, Lai AH, Kelly L, Hornick JL; NIH Pediatric and Wild-Type GIST Clinic; O'Sullivan M, ...