190 related articles for article (PubMed ID: 32253025)
1. Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.
Nadjar Y; Souvannanorath S; Maisonobe T; Brisset M; De Lonlay P; Schiff M; Viala K; Boutron A; Nicolas G; Laforêt P
Rev Neurol (Paris); 2020 May; 176(5):380-386. PubMed ID: 32253025
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [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]
4. Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
Boese EA; Jain N; Jia Y; Schlechter CL; Harding CO; Gao SS; Patel RC; Huang D; Weleber RG; Gillingham MB; Pennesi ME
Ophthalmology; 2016 Oct; 123(10):2183-95. PubMed ID: 27491397
[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 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood.
Uzun ÖÜ; Çavdarlı B; Karalök S
Turk J Pediatr; 2021; 63(6):1097-1102. PubMed ID: 35023662
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association.
Kumar G; Nair R; Hendawy BS; AlShkeili OA; Alabdouli AA; Ali AMA; AlTenaiji AMJ
CEN Case Rep; 2019 Aug; 8(3):173-177. PubMed ID: 30747351
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations.
Dagher R; Massie R; Gentil BJ
Mol Genet Metab; 2021 May; 133(1):1-7. PubMed ID: 33744096
[TBL] [Abstract][Full Text] [Related]
18. Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients.
Immonen T; Ahola E; Toppila J; Lapatto R; Tyni T; Lauronen L
Eur J Paediatr Neurol; 2016 Jan; 20(1):38-44. PubMed ID: 26653362
[TBL] [Abstract][Full Text] [Related]
19. Analysis of a family with mitochondrial trifunctional protein deficiency caused by
Yang J; Yuan D; Tan X; Zeng Y; Tang N; Chen D; Tan J; Cai R; Huang J; Yan T
Mol Med Rep; 2022 Feb; 25(2):. PubMed ID: 34878152
[TBL] [Abstract][Full Text] [Related]
20. A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
Piekutowska-Abramczuk D; Olsen RK; Wierzba J; Popowska E; Jurkiewicz D; Ciara E; Ołtarzewski M; Gradowska W; Sykut-Cegielska J; Krajewska-Walasek M; Andresen BS; Gregersen N; Pronicka E
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S373-7. PubMed ID: 20814823
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
