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  1. xmlmplus_topics_2024-05-25.xml 
    https://medlineplus.gov/xml/mplus_topics_2024-05-25.xml
    ... related-topic >Reflux in Infants</related-topic><see-reference >Acid Reflux</see-reference><see-reference >Gastroesophageal Reflux</see- ... primary-institute><related-topic >GERD</related-topic><see-reference >Acid Reflux</see-reference><site ><information-category >Start Here</ ...
  2. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... product . TGFBR1 encodes a protein of 503 amino acids (reference sequence NP_004603.1 ). TGFβ binds to three ... product . TGFBR2 encodes a protein of 567 amino acids ( NP_001020018.1 ). Abnormal gene product . See Molecular Pathogenesis . References Published Guidelines / Consensus Statements MacCarrick G, Black JH ...
  3. Hereditary Paraganglioma-Pheochromocytoma Syndromes - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1548
    ... dehydrogenase (ubiquinone) iron-sulfur subunit, a 280-amino-acid protein (reference sequence NP_002991.2 ). Abnormal gene product . Pathogenic ... succinate dehydrogenase cytochrome b560 subunit, a 169-amino-acid protein (reference sequence NP_002992.1 ). Abnormal gene product . Pathogenic ...
  4. Excluded clinical studies - MI - Secondary Prevention - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK328079
    ... 1. Lifestyle J.1.1. Omega-3 fatty acids View in own window Reference Reason for exclusion Aarsetøy H 2008 11 Not ... for clinical review. Ussia2011 591 Population not relevant. Aortic valve implant ... a reference. J.3.6. Late initiation of antiplatelet therapy ...
  5. SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria - GeneReviews® ... 
    https://www.ncbi.nlm.nih.gov/books/NBK425223
    ... CoA mutase, leading to the accumulation of methylmalonic acid (MMA) [ El-Hattab & Scaglia 2013 ]. References Literature Cited Cámara Y, González-Vioque E, Scarpelli ...
  6. ACTG2-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299311
    ... the role of some of the mutated amino acids in actin polymerization [ Graceffa & Dominguez 2003 ]. References Literature Cited Al-Hazmi H, Dreux S, Delezoide ...
  7. ACTA2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/acta2
    ... Diseases from OMIM ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA; ACTA2 SMOOTH MUSCLE DYSFUNCTION SYNDROME; SMDYS Gene and Variant Databases NCBI Gene ClinVar References El-Hamamsy I, Yacoub MH. Cellular and molecular ...
  8. Familial thoracic aortic aneurysm and dissection: MedlinePlus Genetics 
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection
    ... 6; AAT6 AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7 AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8 Scientific Articles on PubMed PubMed References Brautbar A, LeMaire SA, Franco LM, Coselli JS, ...
  9. Gaucher Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1269
    ... Genome Variation Society ( varnomen ​.hgvs.org ). See Quick Reference for an explanation of nomenclature. 1. In the common variant names, amino acid number 1 is the first residue (Ala) of ...
  10. Classic Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1244
    ... ski stockings with shin padding during activities. Ascorbic acid (vitamin C) may reduce bruising. Surveillance: Yearly echocardiogram when aortic dilatation and/or mitral valve prolapse are present. ...
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