These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 34667719)

  • 1. Valine metabolites analysis in ECHS1 deficiency.
    Kuwajima M; Kojima K; Osaka H; Hamada Y; Jimbo E; Watanabe M; Aoki S; Sato-Shirai I; Ichimoto K; Fushimi T; Murayama K; Ohtake A; Kohda M; Kishita Y; Yatsuka Y; Uchino S; Mimaki M; Miyake N; Matsumoto N; Okazaki Y; Ogata T; Yamagata T; Muramatsu K
    Mol Genet Metab Rep; 2021 Dec; 29():100809. PubMed ID: 34667719
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature.
    Yang H; Yu D
    BMC Pediatr; 2020 Feb; 20(1):50. PubMed ID: 32013919
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
    Yamada K; Aiba K; Kitaura Y; Kondo Y; Nomura N; Nakamura Y; Fukushi D; Murayama K; Shimomura Y; Pitt J; Yamaguchi S; Yokochi K; Wakamatsu N
    J Med Genet; 2015 Oct; 52(10):691-8. PubMed ID: 26251176
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
    Fitzsimons PE; Alston CL; Bonnen PE; Hughes J; Crushell E; Geraghty MT; Tetreault M; O'Reilly P; Twomey E; Sheikh Y; Walsh R; Waterham HR; Ferdinandusse S; Wanders RJA; Taylor RW; Pitt JJ; Mayne PD
    Am J Med Genet A; 2018 May; 176(5):1115-1127. PubMed ID: 29575569
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
    Peters H; Buck N; Wanders R; Ruiter J; Waterham H; Koster J; Yaplito-Lee J; Ferdinandusse S; Pitt J
    Brain; 2014 Nov; 137(Pt 11):2903-8. PubMed ID: 25125611
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
    Bernhardt I; Frajman LE; Ryder B; Andersen E; Wilson C; McKeown C; Anderson T; Coman D; Vincent AL; Buchanan C; Roxburgh R; Pitt J; De Hora M; Christodoulou J; Thorburn DR; Wilson F; Drake KM; Leask M; Yardley AM; Merriman T; Robertson S; Compton AG; Glamuzina E
    Mol Genet Metab; 2024 Jul; 142(3):108508. PubMed ID: 38820906
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.
    Pata S; Flores-Rojas K; Gil A; López-Laso E; Marti-Sánchez L; Baide-Mairena H; Pérez-Dueñas B; Gil-Campos M
    Orphanet J Rare Dis; 2022 Sep; 17(1):340. PubMed ID: 36064416
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblings.
    Sato-Shirai I; Ogawa E; Arisaka A; Osaka H; Murayama K; Kuwajima M; Watanabe M; Ichimoto K; Ohtake A; Kumada S
    Brain Dev; 2021 Feb; 43(2):308-313. PubMed ID: 33139125
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.
    Muntean C; Tripon F; Bogliș A; Bănescu C
    Int J Environ Res Public Health; 2022 Feb; 19(4):. PubMed ID: 35206276
    [No Abstract]   [Full Text] [Related]  

  • 11. Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
    Peters H; Ferdinandusse S; Ruiter JP; Wanders RJ; Boneh A; Pitt J
    Mol Genet Metab; 2015 Aug; 115(4):168-73. PubMed ID: 26163321
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
    Olgiati S; Skorvanek M; Quadri M; Minneboo M; Graafland J; Breedveld GJ; Bonte R; Ozgur Z; van den Hout MC; Schoonderwoerd K; Verheijen FW; van IJcken WF; Chien HF; Barbosa ER; Chang HC; Lai SC; Yeh TH; Lu CS; Wu-Chou YH; Kievit AJ; Han V; Gdovinova Z; Jech R; Hofstra RM; Ruijter GJ; Mandemakers W; Bonifati V
    Mov Disord; 2016 Jul; 31(7):1041-8. PubMed ID: 27090768
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and biochemical characterization of four patients with mutations in ECHS1.
    Ferdinandusse S; Friederich MW; Burlina A; Ruiter JP; Coughlin CR; Dishop MK; Gallagher RC; Bedoyan JK; Vaz FM; Waterham HR; Gowan K; Chatfield K; Bloom K; Bennett MJ; Elpeleg O; Van Hove JL; Wanders RJ
    Orphanet J Rare Dis; 2015 Jun; 10():79. PubMed ID: 26081110
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
    Haack TB; Jackson CB; Murayama K; Kremer LS; Schaller A; Kotzaeridou U; de Vries MC; Schottmann G; Santra S; Büchner B; Wieland T; Graf E; Freisinger P; Eggimann S; Ohtake A; Okazaki Y; Kohda M; Kishita Y; Tokuzawa Y; Sauer S; Memari Y; Kolb-Kokocinski A; Durbin R; Hasselmann O; Cremer K; Albrecht B; Wieczorek D; Engels H; Hahn D; Zink AM; Alston CL; Taylor RW; Rodenburg RJ; Trollmann R; Sperl W; Strom TM; Hoffmann GF; Mayr JA; Meitinger T; Bolognini R; Schuelke M; Nuoffer JM; Kölker S; Prokisch H; Klopstock T
    Ann Clin Transl Neurol; 2015 May; 2(5):492-509. PubMed ID: 26000322
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An incidental finding in newborn screening leading to the diagnosis of a patient with
    Pajares S; López RM; Gort L; Argudo-Ramírez A; Marín JL; González de Aledo-Castillo JM; García-Villoria J; Arranz JA; Del Toro M; Tort F; Ugarteburu O; Casellas MD; Fernández R; Ribes A
    Mol Genet Metab Rep; 2020 Mar; 22():100553. PubMed ID: 31908952
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.
    Huffnagel IC; Redeker EJW; Reneman L; Vaz FM; Ferdinandusse S; Poll-The BT
    JIMD Rep; 2018; 39():83-87. PubMed ID: 28755360
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
    Bedoyan JK; Yang SP; Ferdinandusse S; Jack RM; Miron A; Grahame G; DeBrosse SD; Hoppel CL; Kerr DS; Wanders RJA
    Mol Genet Metab; 2017 Apr; 120(4):342-349. PubMed ID: 28202214
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
    François-Heude MC; Lebigot E; Roze E; Warde MTA; Cances C; Damaj L; Espil C; Fluss J; de Lonlay P; Kern I; Lenaers G; Munnich A; Meyer P; Spitz MA; Torre S; Doummar D; Touati G; Leboucq N; Roubertie A
    Eur J Neurol; 2022 Nov; 29(11):3229-3242. PubMed ID: 36200804
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Loss of mitochondrial fatty acid β-oxidation protein short-chain Enoyl-CoA hydratase disrupts oxidative phosphorylation protein complex stability and function.
    Burgin H; Sharpe AJ; Nie S; Ziemann M; Crameri JJ; Stojanovski D; Pitt J; Ohtake A; Murayama K; McKenzie M
    FEBS J; 2023 Jan; 290(1):225-246. PubMed ID: 35962613
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.
    Sun D; Liu Z; Liu Y; Wu M; Fang F; Deng X; Liu Z; Song L; Murayama K; Zhang C; Zhu Y
    BMC Med Genet; 2020 Jul; 21(1):149. PubMed ID: 32677908
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.