180 related articles for article (PubMed ID: 27769081)
1. An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
Erdol S; Ture M; Baytan B; Yakut T; Saglam H
J Pediatr Hematol Oncol; 2016 Nov; 38(8):661-662. PubMed ID: 27769081
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder.
Terrone G; Ruoppolo M; Brunetti-Pierri N; Cozzolino C; Scolamiero E; Parenti G; Romano A; Andria G; Salvatore F; Frisso G
Neurology; 2014 Jan; 82(1):e1-4. PubMed ID: 24379101
[No Abstract] [Full Text] [Related]
4. [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]
5. 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]
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. 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]
8. 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]
9. 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]
10. Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.
Ojala T; Nupponen I; Saloranta C; Sarkola T; Sekar P; Breilin A; Tyni T
Eur J Pediatr; 2015 Dec; 174(12):1689-92. PubMed ID: 26070998
[TBL] [Abstract][Full Text] [Related]
11. [Variation of long-chain 3-hydroxyacyl-CoA dehydrogenase DNA methylation in placenta of different preeclampsia-like mouse models].
Han Y; Yang Z; Ding X; Yu H; Yi Y
Zhonghua Fu Chan Ke Za Zhi; 2015 Oct; 50(10):740-6. PubMed ID: 26675572
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.
Haglind CB; Nordenström A; Ask S; von Döbeln U; Gustafsson J; Stenlid MH
J Inherit Metab Dis; 2015 Mar; 38(2):315-22. PubMed ID: 25141826
[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. 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]
17. Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Immonen T; Turanlahti M; Paganus A; Keskinen P; Tyni T; Lapatto R
Acta Paediatr; 2016 May; 105(5):549-54. PubMed ID: 26676313
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]