138 related articles for article (PubMed ID: 38377647)
1. Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study.
Everard E; Laeremans H; Boemer F; Marie S; Vincent MF; Dewulf JP; Debray FG; De Laet C; Nassogne MC
Eur J Paediatr Neurol; 2024 Mar; 49():60-65. PubMed ID: 38377647
[TBL] [Abstract][Full Text] [Related]
2. Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro P; Jotta R; Ramos R; Florindo C; Ventura FV; Vilarinho L; Tavares de Almeida I; Gaspar A
Eur J Pediatr; 2019 Mar; 178(3):387-394. PubMed ID: 30617651
[TBL] [Abstract][Full Text] [Related]
3. Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K; Hrubá E; Pavlíková M; Hanák P; Farolfi M; Chrastina P; Vlášková H; Kousal B; Smolka V; Foltenová H; Adam T; Friedecký D; Ješina P; Zeman J; Kožich V; Honzík T
Nutrients; 2021 Aug; 13(9):. PubMed ID: 34578803
[TBL] [Abstract][Full Text] [Related]
4. Muscle MRI in patients with long-chain fatty acid oxidation disorders.
Diekman EF; van der Pol WL; Nievelstein RA; Houten SM; Wijburg FA; Visser G
J Inherit Metab Dis; 2014 May; 37(3):405-13. PubMed ID: 24305961
[TBL] [Abstract][Full Text] [Related]
5. Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.
Elizondo G; Matern D; Vockley J; Harding CO; Gillingham MB
Mol Genet Metab; 2020; 131(1-2):90-97. PubMed ID: 32928639
[TBL] [Abstract][Full Text] [Related]
6. Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Lotz-Havla AS; Röschinger W; Schiergens K; Singer K; Karall D; Konstantopoulou V; Wortmann SB; Maier EM
Orphanet J Rare Dis; 2018 Jul; 13(1):122. PubMed ID: 30029694
[TBL] [Abstract][Full Text] [Related]
7. Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.
Potter BK; Little J; Chakraborty P; Kronick JB; Evans J; Frei J; Sutherland SC; Wilson K; Wilson BJ
J Inherit Metab Dis; 2012 Jan; 35(1):115-23. PubMed ID: 21630065
[TBL] [Abstract][Full Text] [Related]
8. Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
Yuasa M; Hata I; Sugihara K; Isozaki Y; Ohshima Y; Hara K; Tajima G; Shigematsu Y
Dis Markers; 2019; 2019():2984747. PubMed ID: 30881520
[TBL] [Abstract][Full Text] [Related]
9. Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U; Ottenberger A; Gleich F; Maier EM; Lindner M; Husain RA; Palm K; Beblo S; Freisinger P; Santer R; Thimm E; Vom Dahl S; Weinhold N; Grohmann-Held K; Haase C; Hennermann JB; Hörbe-Blindt A; Kamrath C; Marquardt I; Marquardt T; Behne R; Haas D; Spiekerkoetter U; Hoffmann GF; Garbade SF; Grünert SC; Kölker S
Ann Clin Transl Neurol; 2024 Apr; 11(4):883-898. PubMed ID: 38263760
[TBL] [Abstract][Full Text] [Related]
10. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Bleeker JC; Kok IL; Ferdinandusse S; van der Pol WL; Cuppen I; Bosch AM; Langeveld M; Derks TGJ; Williams M; de Vries M; Mulder MF; Gozalbo ER; de Sain-van der Velden MGM; Rennings AJ; Schielen PJCI; Dekkers E; Houtkooper RH; Waterham HR; Pras-Raves ML; Wanders RJA; van Hasselt PM; Schoenmakers M; Wijburg FA; Visser G
J Inherit Metab Dis; 2019 May; 42(3):414-423. PubMed ID: 30761551
[TBL] [Abstract][Full Text] [Related]
11. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Yamada K; Taketani T
J Hum Genet; 2019 Feb; 64(2):73-85. PubMed ID: 30401918
[TBL] [Abstract][Full Text] [Related]
12. Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population.
Wang S; Leng J; Diao C; Wang Y; Zheng R
J Pediatr Endocrinol Metab; 2020 May; 33(6):683-690. PubMed ID: 32447334
[TBL] [Abstract][Full Text] [Related]
13. Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.
Fraser H; Geppert J; Johnson R; Johnson S; Connock M; Clarke A; Taylor-Phillips S; Stinton C
Orphanet J Rare Dis; 2019 Nov; 14(1):258. PubMed ID: 31730477
[TBL] [Abstract][Full Text] [Related]
14. Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Kang E; Kim YM; Kang M; Heo SH; Kim GH; Choi IH; Choi JH; Yoo HW; Lee BH
BMC Pediatr; 2018 Mar; 18(1):103. PubMed ID: 29519241
[TBL] [Abstract][Full Text] [Related]
15. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Schwantje M; Fuchs SA; de Boer L; Bosch AM; Cuppen I; Dekkers E; Derks TGJ; Ferdinandusse S; Ijlst L; Houtkooper RH; Maase R; van der Pol WL; de Vries MC; Verschoof-Puite RK; Wanders RJA; Williams M; Wijburg F; Visser G
J Inherit Metab Dis; 2022 Jul; 45(4):804-818. PubMed ID: 35383965
[TBL] [Abstract][Full Text] [Related]
16. The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
Grünert SC; Eckenweiler M; Haas D; Lindner M; Tsiakas K; Santer R; Tucci S; Spiekerkoetter U
J Inherit Metab Dis; 2021 Jul; 44(4):893-902. PubMed ID: 33638202
[TBL] [Abstract][Full Text] [Related]
17. Serial fatty acid profiles in a preterm infant with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Suganuma H; McPhee AJ; Bratkovic D; Gibson RA; Andersen CC
Pediatr Int; 2019 Apr; 61(4):415-416. PubMed ID: 31025818
[No Abstract] [Full Text] [Related]
18. Long-chain fatty acid oxidation during early human development.
Oey NA; den Boer ME; Wijburg FA; Vekemans M; Augé J; Steiner C; Wanders RJ; Waterham HR; Ruiter JP; Attié-Bitach T
Pediatr Res; 2005 Jun; 57(6):755-9. PubMed ID: 15845636
[TBL] [Abstract][Full Text] [Related]
19. Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Rovelli V; Manzoni F; Viau K; Pasquali M; Longo N
Mol Genet Metab; 2019 May; 127(1):64-73. PubMed ID: 31031081
[TBL] [Abstract][Full Text] [Related]
20. Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Schwantje M; Ebberink MS; Doolaard M; Ruiter JPN; Fuchs SA; Darin N; Hedberg-Oldfors C; Régal L; Donker Kaat L; Huidekoper HH; Olpin S; Cole D; Moat SJ; Visser G; Ferdinandusse S
J Inherit Metab Dis; 2022 Jul; 45(4):819-831. PubMed ID: 35403730
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
