116 related articles for article (PubMed ID: 24294134)
1. Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
Catarzi S; Caciotti A; Thusberg J; Tonin R; Malvagia S; la Marca G; Pasquini E; Cavicchi C; Ferri L; Donati MA; Baronio F; Guerrini R; Mooney SD; Morrone A
ScientificWorldJournal; 2013; 2013():625824. PubMed ID: 24294134
[TBL] [Abstract][Full Text] [Related]
2. 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler K; Zhai S; Elsbecker SA; Arnold GL; Burton BK; Vockley J; Cameron CA; Hiner SJ; Edick MJ; Berry SA;
Mol Genet Metab; 2016 Sep; 119(1-2):75-82. PubMed ID: 27477829
[TBL] [Abstract][Full Text] [Related]
3. Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population.
Mesbah Z; Sing Ho K; Fitzsimons P; Monavari AA; Mayne PD; Crushell E
Ir Med J; 2019 Dec; 112(10):1016. PubMed ID: 32311243
[TBL] [Abstract][Full Text] [Related]
4. Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France.
Hamers FF; Rumeau-Pichon C
BMC Pediatr; 2012 Jun; 12():60. PubMed ID: 22681855
[TBL] [Abstract][Full Text] [Related]
5. Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients.
Odendaal C; Jager EA; Martines AMF; Vieira-Lara MA; Huijkman NCA; Kiyuna LA; Gerding A; Wolters JC; Heiner-Fokkema R; van Eunen K; Derks TGJ; Bakker BM
BMC Biol; 2023 Sep; 21(1):184. PubMed ID: 37667308
[TBL] [Abstract][Full Text] [Related]
6. [Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency].
Xiao M; Xie Z; Liu J; Li X; Zhang Q; Zhang Z; Li D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):787-794. PubMed ID: 37368378
[TBL] [Abstract][Full Text] [Related]
7. Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.
Krebs-Drouot L; Schalk A; Schaefer E; Keyser C; Gonzalez A; Calmels N; Wardé MA; Oertel L; Acquaviva CÉ; Mandel JL; Farrugia A
Forensic Sci Int Genet; 2024 Jul; 71():103028. PubMed ID: 38518711
[TBL] [Abstract][Full Text] [Related]
8. Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.
Marsden D; Bedrosian CL; Vockley J
Genet Med; 2021 May; 23(5):816-829. PubMed ID: 33495527
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.
Breilyn MS; Kenny EE; Abul-Husn NS
Mol Genet Metab; 2023 Jan; 138(1):106971. PubMed ID: 36549199
[TBL] [Abstract][Full Text] [Related]
11. A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.
Couce ML; Bóveda MD; Castiñeiras DE; Vázquez-Mosquera ME; Barbosa-Gouveia S; De Castro MJ; Iglesias-Rodríguez AJ; Colón C; Cocho JA; Sánchez P
Orphanet J Rare Dis; 2024 May; 19(1):202. PubMed ID: 38760795
[TBL] [Abstract][Full Text] [Related]
12. Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
McGregor TL; Berry SA; Dipple KM; Hamid R;
Pediatrics; 2021 Jan; 147(1):. PubMed ID: 33372121
[TBL] [Abstract][Full Text] [Related]
13. Coexistence of medium chain acyl-CoA dehydrogenase deficiency (MCADD) and type 1 diabetes (T1D): a management challenge.
Afreh-Mensah D; Agwu JC
BMJ Case Rep; 2021 Mar; 14(3):. PubMed ID: 33762273
[TBL] [Abstract][Full Text] [Related]
14. Target Diseases for Neonatal Screening in Germany.
Spiekerkoetter U; Krude H
Dtsch Arztebl Int; 2022 Apr; 119(17):306-316. PubMed ID: 35140012
[TBL] [Abstract][Full Text] [Related]
15. [Analysis of screening results for genetic metabolic diseases among 352 449 newborns from Changsha].
Li X; He L; Sun Y; Huang X; Luo Y; Li Y; Zhou S; Zeng Y; He J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1075-1085. PubMed ID: 37643952
[TBL] [Abstract][Full Text] [Related]
16. Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening.
Prasad C; Speechley KN; Dyack S; Rupar CA; Chakraborty P; Kronick JB
Paediatr Child Health; 2012 Apr; 17(4):185-9. PubMed ID: 23543005
[TBL] [Abstract][Full Text] [Related]
17. Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium-Chain Acyl-CoA dehydrogenase deficiency.
Guerra IMS; Ferreira HB; Maurício T; Pinho M; Diogo L; Moreira S; Goracci L; Bonciarelli S; Melo T; Domingues P; Domingues MR; Moreira ASP
J Inherit Metab Dis; 2024 Feb; ():. PubMed ID: 38356271
[TBL] [Abstract][Full Text] [Related]
18. Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.
Koster KL; Sturm M; Herebian D; Smits SH; Spiekerkoetter U
J Inherit Metab Dis; 2014 Nov; 37(6):917-28. PubMed ID: 24966162
[TBL] [Abstract][Full Text] [Related]
19. Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency.
Wiles JR; Leslie N; Knilans TK; Akinbi H
Pediatrics; 2014 Jun; 133(6):e1781-6. PubMed ID: 24799540
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
