142 related articles for article (PubMed ID: 31399326)
1. Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.
McGlaughon JL; Pasquali M; Wallace K; Ross J; Senol-Cosar O; Shen W; Weaver MA; Feigenbaum A; Lyon E; Enns GM; Mao R; Baudet HG
Mol Genet Metab; 2019; 128(1-2):122-128. PubMed ID: 31399326
[TBL] [Abstract][Full Text] [Related]
2. Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
Mohan S; Mayers M; Weaver M; Baudet H; De Biase I; Goldstein J; Mao R; McGlaughon J; Moser A; Pujol A; Suchy S; Yuzyuk T; Braverman NE
Mol Genet Metab; 2023 Jul; 139(3):107604. PubMed ID: 37236006
[TBL] [Abstract][Full Text] [Related]
3. Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Seifert BA; McGlaughon JL; Jackson SA; Ritter DI; Roberts ME; Schmidt RJ; Thompson BA; Jimenez S; Trapp M; Lee K; Plon SE; Offit K; Stadler ZK; Zhang L; Greenblatt MS; Ferber MJ
Genet Med; 2019 Jul; 21(7):1507-1516. PubMed ID: 30523343
[TBL] [Abstract][Full Text] [Related]
4. Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.
Lee K; Seifert BA; Shimelis H; Ghosh R; Crowley SB; Carter NJ; Doonanco K; Foreman AK; Ritter DI; Jimenez S; Trapp M; Offit K; Plon SE; Couch FJ
Genet Med; 2019 Jul; 21(7):1497-1506. PubMed ID: 30504931
[TBL] [Abstract][Full Text] [Related]
5. Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders.
Rinaldo P; Yoon HR; Yu C; Raymond K; Tiozzo C; Giordano G
Semin Perinatol; 1999 Apr; 23(2):204-10. PubMed ID: 10331471
[TBL] [Abstract][Full Text] [Related]
6. The changing face of disorders of fatty acid oxidation.
Vockley J
Mayo Clin Proc; 1994 Mar; 69(3):249-57. PubMed ID: 8133663
[TBL] [Abstract][Full Text] [Related]
7. Fatty acid oxidation disorders: maternal health and neonatal outcomes.
Rector RS; Ibdah JA
Semin Fetal Neonatal Med; 2010 Jun; 15(3):122-8. PubMed ID: 19926542
[TBL] [Abstract][Full Text] [Related]
8. Regulation of mitochondrial fatty acid β-oxidation in human: what can we learn from inborn fatty acid β-oxidation deficiencies?
Bastin J
Biochimie; 2014 Jan; 96():113-20. PubMed ID: 23764392
[TBL] [Abstract][Full Text] [Related]
9. Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain.
Golbahar J; Al-Jishi EA; Altayab DD; Carreon E; Bakhiet M; Alkhayyat H
Mol Genet Metab; 2013; 110(1-2):98-101. PubMed ID: 23916421
[TBL] [Abstract][Full Text] [Related]
10. Disorders of mitochondrial fatty acyl-CoA beta-oxidation.
Wanders RJ; Vreken P; den Boer ME; Wijburg FA; van Gennip AH; IJlst L
J Inherit Metab Dis; 1999 Jun; 22(4):442-87. PubMed ID: 10407780
[TBL] [Abstract][Full Text] [Related]
11. ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
DiStefano MT; Hemphill SE; Oza AM; Siegert RK; Grant AR; Hughes MY; Cushman BJ; Azaiez H; Booth KT; Chapin A; Duzkale H; Matsunaga T; Shen J; Zhang W; Kenna M; Schimmenti LA; Tekin M; Rehm HL; Tayoun ANA; Amr SS;
Genet Med; 2019 Oct; 21(10):2239-2247. PubMed ID: 30894701
[TBL] [Abstract][Full Text] [Related]
12. Disorders of fatty acid transport and mitochondrial oxidation: challenges and dilemmas of metabolic evaluation.
Rinaldo P; Matern D
Genet Med; 2000; 2(6):338-44. PubMed ID: 11339654
[TBL] [Abstract][Full Text] [Related]
13. Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Saudubray JM; Martin D; de Lonlay P; Touati G; Poggi-Travert F; Bonnet D; Jouvet P; Boutron M; Slama A; Vianey-Saban C; Bonnefont JP; Rabier D; Kamoun P; Brivet M
J Inherit Metab Dis; 1999 Jun; 22(4):488-502. PubMed ID: 10407781
[TBL] [Abstract][Full Text] [Related]
14. The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.
Wanders RJ; Ruiter JP; IJLst L; Waterham HR; Houten SM
J Inherit Metab Dis; 2010 Oct; 33(5):479-94. PubMed ID: 20490924
[TBL] [Abstract][Full Text] [Related]
15. Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
Rinaldo P
Dig Dis Sci; 1999 Aug; 44(8 Suppl):97S-102S. PubMed ID: 10490047
[TBL] [Abstract][Full Text] [Related]
16. Clinical and biochemical features of fatty acid oxidation disorders.
Rinaldo P; Raymond K; al-Odaib A; Bennett MJ
Curr Opin Pediatr; 1998 Dec; 10(6):615-21. PubMed ID: 9848022
[TBL] [Abstract][Full Text] [Related]
17. Disorders of fatty acid oxidation.
Tein I
Handb Clin Neurol; 2013; 113():1675-88. PubMed ID: 23622388
[TBL] [Abstract][Full Text] [Related]
18. Mitochondrial fatty-acid oxidation disorders.
Kompare M; Rizzo WB
Semin Pediatr Neurol; 2008 Sep; 15(3):140-9. PubMed ID: 18708005
[TBL] [Abstract][Full Text] [Related]
19. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.
Boles RG; Buck EA; Blitzer MG; Platt MS; Cowan TM; Martin SK; Yoon H; Madsen JA; Reyes-Mugica M; Rinaldo P
J Pediatr; 1998 Jun; 132(6):924-33. PubMed ID: 9627580
[TBL] [Abstract][Full Text] [Related]
20. The association between acute fatty liver of pregnancy and fatty acid oxidation disorders.
Jamerson PA
J Obstet Gynecol Neonatal Nurs; 2005; 34(1):87-92. PubMed ID: 15673650
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
