159 related articles for article (PubMed ID: 34543737)
41. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
Llorca-Cardeñosa A; Català-Mora J; García-Cazorla A; Meavilla S; Castejón-Ponce E
Arch Soc Esp Oftalmol; 2016 May; 91(5):236-9. PubMed ID: 26896063
[TBL] [Abstract][Full Text] [Related]
42. Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.
García García LC; Zamorano Martín F; Rocha de Lossada C; García Lorente M; Luque Aranda G; Escudero Gómez J
Arch Soc Esp Oftalmol (Engl Ed); 2021 Sep; 96(9):496-499. PubMed ID: 34479707
[TBL] [Abstract][Full Text] [Related]
43. Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.
Lefort B; Gouache E; Acquaviva C; Tardieu M; Benoist JF; Dumas JF; Servais S; Chevalier S; Vianey-Saban C; Labarthe F
Biochim Biophys Acta Mol Basis Dis; 2017 Jun; 1863(6):1292-1299. PubMed ID: 28392417
[TBL] [Abstract][Full Text] [Related]
44. Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database.
Lim CC; Vockley J; Ujah O; Kirby RS; Edick MJ; Berry SA; Arnold GL
Mol Genet Metab Rep; 2022 Sep; 32():100884. PubMed ID: 35677112
[TBL] [Abstract][Full Text] [Related]
45. When the usual symptoms become an unusual diagnosis: a case report of trifunctional protein complex.
Anderson S; Brooks SS
Neonatal Netw; 2013; 32(4):262-73. PubMed ID: 23835545
[TBL] [Abstract][Full Text] [Related]
46. 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]
47. ECHS1 deficiency and its biochemical and clinical phenotype.
Ozlu C; Chelliah P; Dahshi H; Horton D; Edgar VB; Messahel S; Kayani S
Am J Med Genet A; 2022 Oct; 188(10):2908-2919. PubMed ID: 35856138
[TBL] [Abstract][Full Text] [Related]
48. 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]
49. Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency.
Androudi S; Mataftsi A; Brazitikos P
Ophthalmol Retina; 2018 Jan; 2(1):74. PubMed ID: 31047310
[No Abstract] [Full Text] [Related]
50. A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.
Hong YB; Lee JH; Park JM; Choi YR; Hyun YS; Yoon BR; Yoo JH; Koo H; Jung SC; Chung KW; Choi BO
BMC Med Genet; 2013 Dec; 14():125. PubMed ID: 24314034
[TBL] [Abstract][Full Text] [Related]
51. 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]
52. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.
Spiekerkoetter U; Khuchua Z; Yue Z; Bennett MJ; Strauss AW
Pediatr Res; 2004 Feb; 55(2):190-6. PubMed ID: 14630990
[TBL] [Abstract][Full Text] [Related]
53. 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]
54. Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene.
Das AM; Illsinger S; Lücke T; Hartmann H; Ruiter JP; Steuerwald U; Waterham HR; Duran M; Wanders RJ
Clin Chem; 2006 Mar; 52(3):530-4. PubMed ID: 16423905
[TBL] [Abstract][Full Text] [Related]
55. The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement.
Spierkerkoetter U; Khuchua Z; Yue Z; Strauss AW
J Inherit Metab Dis; 2004; 27(2):294-6. PubMed ID: 15243991
[TBL] [Abstract][Full Text] [Related]
56. Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler-Najjar syndrome type I and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Knapp A; Jagła M; Madetko-Talowska A; Szewczyk K; Książek T; Końska K; Kwinta P
Am J Med Genet A; 2022 Jun; 188(6):1848-1852. PubMed ID: 35199468
[TBL] [Abstract][Full Text] [Related]
57. Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
Karall D; Brunner-Krainz M; Kogelnig K; Konstantopoulou V; Maier EM; Möslinger D; Plecko B; Sperl W; Volkmar B; Scholl-Bürgi S
Orphanet J Rare Dis; 2015 Feb; 10():21. PubMed ID: 25888220
[TBL] [Abstract][Full Text] [Related]
58. Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
Rigaudière F; Delouvrier E; Le Gargasson JF; Milani P; Ogier de Baulny H; Schiff M
Doc Ophthalmol; 2021 Jun; 142(3):371-380. PubMed ID: 33392894
[TBL] [Abstract][Full Text] [Related]
59. Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
van Vliet P; Berden AE; van Schie MKM; Bakker JA; Heringhaus C; de Coo IFM; Langeveld M; Schroijen MA; Arbous MS
JIMD Rep; 2018; 38():101-105. PubMed ID: 28685493
[TBL] [Abstract][Full Text] [Related]
60. Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency.
Spiekerkoetter U; Mueller M; Cloppenburg E; Motz R; Mayatepek E; Bueltmann B; Korenke C
Mol Genet Metab; 2008 Aug; 94(4):428-430. PubMed ID: 18485779
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]