311 related articles for article (PubMed ID: 15902556)
1. Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Olpin SE; Clark S; Andresen BS; Bischoff C; Olsen RK; Gregersen N; Chakrapani A; Downing M; Manning NJ; Sharrard M; Bonham JR; Muntoni F; Turnbull DN; Pourfarzam M
J Inherit Metab Dis; 2005; 28(4):533-44. PubMed ID: 15902556
[TBL] [Abstract][Full Text] [Related]
2. Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.
Roe DS; Yang BZ; Vianey-Saban C; Struys E; Sweetman L; Roe CR
Mol Genet Metab; 2006 Jan; 87(1):40-7. PubMed ID: 16297647
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Li Y; He C; Li S; Wang J; Jiang L; Guo Y
Eur J Med Genet; 2021 Dec; 64(12):104344. PubMed ID: 34543737
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. [Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease].
Yamamoto Y; Matsui N; Hiramatsu Y; Miyazaki Y; Nodera H; Izumi Y; Takashima H; Kaji R
Rinsho Shinkeigaku; 2017 Feb; 57(2):82-87. PubMed ID: 28132977
[TBL] [Abstract][Full Text] [Related]
8. Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders.
Roe CR; Roe DS; Wallace M; Garritson B
Mol Genet Metab; 2007 Dec; 92(4):346-50. PubMed ID: 17825594
[TBL] [Abstract][Full Text] [Related]
9. Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.
Park HD; Kim SR; Ki CS; Lee SY; Chang YS; Jin DK; Park WS
Ann Clin Lab Sci; 2009; 39(4):399-404. PubMed ID: 19880769
[TBL] [Abstract][Full Text] [Related]
10. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
Sims HF; Brackett JC; Powell CK; Treem WR; Hale DE; Bennett MJ; Gibson B; Shapiro S; Strauss AW
Proc Natl Acad Sci U S A; 1995 Jan; 92(3):841-5. PubMed ID: 7846063
[TBL] [Abstract][Full Text] [Related]
11. Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Fletcher AL; Pennesi ME; Harding CO; Weleber RG; Gillingham MB
Mol Genet Metab; 2012 May; 106(1):18-24. PubMed ID: 22459206
[TBL] [Abstract][Full Text] [Related]
12. Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.
Bo R; Yamada K; Kobayashi H; Jamiyan P; Hasegawa Y; Taketani T; Fukuda S; Hata I; Niida Y; Shigematsu Y; Iijima K; Yamaguchi S
J Hum Genet; 2017 Sep; 62(9):809-814. PubMed ID: 28515471
[TBL] [Abstract][Full Text] [Related]
13. Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
Shahrokhi M; Shafiei M; Galehdari H; Shariati G
Arch Iran Med; 2017 Jan; 20(1):22-27. PubMed ID: 28112527
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.
Spiekerkoetter U; Sun B; Khuchua Z; Bennett MJ; Strauss AW
Hum Mutat; 2003 Jun; 21(6):598-607. PubMed ID: 12754706
[TBL] [Abstract][Full Text] [Related]
16. RETINAL PHENOTYPE IN A CASE OF LCHAD/TFP DEFICIENCY WITH LATE-STAGE DIAGNOSIS.
Knowles JA; Dimopoulos IS; MacDonald IM
Retin Cases Brief Rep; 2019 Summer; 13(3):279-282. PubMed ID: 28301411
[TBL] [Abstract][Full Text] [Related]
17. Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein-deficient skin fibroblasts: implications for medium chain triglyceride dietary treatment of LCHAD deficiency.
Jones PM; Butt Y; Bennett MJ
Pediatr Res; 2003 May; 53(5):783-7. PubMed ID: 12621125
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
