171 related articles for article (PubMed ID: 37367883)
1. A Distinctive Metabolomics Profile and Potential Biomarkers for Very Long Acylcarnitine Dehydrogenase Deficiency (VLCADD) Diagnosis in Newborns.
Sebaa R; AlMalki RH; Alseraty W; Abdel Rahman AM
Metabolites; 2023 Jun; 13(6):. PubMed ID: 37367883
[TBL] [Abstract][Full Text] [Related]
2. Untargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood Spots.
Sebaa R; AlMogren M; Alseraty W; Abdel Rahman AM
Int J Mol Sci; 2023 Jun; 24(11):. PubMed ID: 37298607
[TBL] [Abstract][Full Text] [Related]
3. Comprehensive metabolomics analysis reveals novel biomarkers and pathways in falsely suspected glutaric aciduria Type-1 newborns.
Sabi EM; AlMogren M; Sebaa R; Sumaily KM; AlMalki R; Mujamammi AH; Abdel Rahman AM
Clin Chim Acta; 2024 Apr; 557():117861. PubMed ID: 38490341
[TBL] [Abstract][Full Text] [Related]
4. Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.
Remec ZI; Groselj U; Drole Torkar A; Zerjav Tansek M; Cuk V; Perko D; Ulaga B; Lipovec N; Debeljak M; Kovac J; Battelino T; Repic Lampret B
Front Genet; 2021; 12():648493. PubMed ID: 33986768
[TBL] [Abstract][Full Text] [Related]
5. Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Maguolo A; Rodella G; Dianin A; Nurti R; Monge I; Rigotti E; Cantalupo G; Salviati L; Tucci S; Pellegrini F; Molinaro G; Lupi F; Tonin P; Pasini A; Campostrini N; Ion Popa F; Teofoli F; Vincenzi M; Camilot M; Piacentini G; Bordugo A
Mol Genet Metab Rep; 2020 Sep; 24():100632. PubMed ID: 32793418
[TBL] [Abstract][Full Text] [Related]
6. Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease.
Alotaibi AZ; AlMalki RH; Al Mogren M; Sebaa R; Alanazi M; Jacob M; Alodaib A; Alfares A; Abdel Rahman AM
Int J Mol Sci; 2024 May; 25(11):. PubMed ID: 38891907
[TBL] [Abstract][Full Text] [Related]
7. Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Knottnerus SJG; Pras-Raves ML; van der Ham M; Ferdinandusse S; Houtkooper RH; Schielen PCJI; Visser G; Wijburg FA; de Sain-van der Velden MGM
Biochim Biophys Acta Mol Basis Dis; 2020 Jun; 1866(6):165725. PubMed ID: 32061778
[TBL] [Abstract][Full Text] [Related]
8. Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
Janzen N; Hofmann AD; Schmidt G; Das AM; Illsinger S
Orphanet J Rare Dis; 2017 Dec; 12(1):187. PubMed ID: 29268767
[TBL] [Abstract][Full Text] [Related]
9. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Miller MJ; Burrage LC; Gibson JB; Strenk ME; Lose EJ; Bick DP; Elsea SH; Sutton VR; Sun Q; Graham BH; Craigen WJ; Zhang VW; Wong LJ
Mol Genet Metab; 2015 Nov; 116(3):139-45. PubMed ID: 26385305
[TBL] [Abstract][Full Text] [Related]
10. The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
Hesse J; Braun C; Behringer S; Matysiak U; Spiekerkoetter U; Tucci S
J Inherit Metab Dis; 2018 Nov; 41(6):1169-1178. PubMed ID: 30194637
[TBL] [Abstract][Full Text] [Related]
11. Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.
Spiekerkoetter U; Haussmann U; Mueller M; ter Veld F; Stehn M; Santer R; Lukacs Z
J Pediatr; 2010 Oct; 157(4):668-73. PubMed ID: 20547398
[TBL] [Abstract][Full Text] [Related]
12. Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
Hagemeijer MC; Oussoren E; Ruijter GJG; Onkenhout W; Huidekoper HH; Ebberink MS; Waterham HR; Ferdinandusse S; de Vries MC; Huigen MCDG; Kluijtmans LAJ; Coene KLM; Blom HJ
JIMD Rep; 2021 Sep; 61(1):12-18. PubMed ID: 34485012
[TBL] [Abstract][Full Text] [Related]
13. Validation of a targeted metabolomics panel for improved second-tier newborn screening.
Mak J; Peng G; Le A; Gandotra N; Enns GM; Scharfe C; Cowan TM
J Inherit Metab Dis; 2023 Mar; 46(2):194-205. PubMed ID: 36680545
[TBL] [Abstract][Full Text] [Related]
14. Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Merritt JL; Vedal S; Abdenur JE; Au SM; Barshop BA; Feuchtbaum L; Harding CO; Hermerath C; Lorey F; Sesser DE; Thompson JD; Yu A
Mol Genet Metab; 2014 Apr; 111(4):484-92. PubMed ID: 24503138
[TBL] [Abstract][Full Text] [Related]
15. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Bleeker JC; Kok IL; Ferdinandusse S; de Vries M; Derks TGJ; Mulder MF; Williams M; Gozalbo ER; Bosch AM; van den Hurk DT; de Sain-van der Velden MGM; Waterham HR; Wijburg FA; Visser G
J Inherit Metab Dis; 2019 Jan; 42(1):159-168. PubMed ID: 30740737
[TBL] [Abstract][Full Text] [Related]
16. Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.
Schiff M; Mohsen AW; Karunanidhi A; McCracken E; Yeasted R; Vockley J
Mol Genet Metab; 2013 May; 109(1):21-7. PubMed ID: 23480858
[TBL] [Abstract][Full Text] [Related]
17. Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Zhang RN; Li YF; Qiu WJ; Ye J; Han LS; Zhang HW; Lin N; Gu XF
World J Pediatr; 2014 May; 10(2):119-25. PubMed ID: 24801231
[TBL] [Abstract][Full Text] [Related]
18. Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening.
Spiekerkoetter U; Mueller M; Sturm M; Hofmann M; Schneider DT
JIMD Rep; 2012; 6():113-5. PubMed ID: 23430948
[TBL] [Abstract][Full Text] [Related]
19. Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.
Li X; Ding Y; Ma Y; Liu Y; Wang Q; Song J; Yang Y
Eur J Med Genet; 2015 Mar; 58(3):134-9. PubMed ID: 25652019
[TBL] [Abstract][Full Text] [Related]
20. High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.
Olsen RK; Dobrowolski SF; Kjeldsen M; Hougaard D; Simonsen H; Gregersen N; Andresen BS
J Inherit Metab Dis; 2010 Jun; 33(3):247-60. PubMed ID: 20480395
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]