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 *

131 related articles for article (PubMed ID: 30477625)

  • 1. [Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency: a case report and literature review].
    Ma D; Yu D
    Zhongguo Dang Dai Er Ke Za Zhi; 2018 Nov; 20(11):930-933. PubMed ID: 30477625
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report.
    Liu H; Miao JK; Yu CW; Wan KX; Zhang J; Yuan ZJ; Yang J; Wang DJ; Zeng Y; Zou L
    BMC Pediatr; 2019 Oct; 19(1):344. PubMed ID: 31597564
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical, biochemical, molecular and therapeutic characteristics of four new patients of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency.
    Wang Q; Yang YL; Liu M; Chen JJ; Li XQ; Cao BY; Gong CX
    Clin Chim Acta; 2020 Oct; 509():83-90. PubMed ID: 32470406
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review.
    Kılıç M; Dorum S; Topak A; Yazıcı MU; Ezgu FS; Coskun T
    Am J Med Genet A; 2020 Jul; 182(7):1608-1614. PubMed ID: 32259399
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.
    Pitt JJ; Peters H; Boneh A; Yaplito-Lee J; Wieser S; Hinderhofer K; Johnson D; Zschocke J
    J Inherit Metab Dis; 2015 May; 38(3):459-66. PubMed ID: 25511235
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical, Biochemical, Molecular, and Outcome Features of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency in 10 Chinese Patients.
    Wu S; Shen L; Chen Q; Gong C; Yang Y; Wei H; Cao B; Chen Y
    Front Genet; 2021; 12():816779. PubMed ID: 35308163
    [No Abstract]   [Full Text] [Related]  

  • 7. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features.
    Conboy E; Vairo F; Schultz M; Agre K; Ridsdale R; Deyle D; Oglesbee D; Gavrilov D; Klee EW; Lanpher B
    JIMD Rep; 2018; 40():63-69. PubMed ID: 29030856
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia.
    Lee T; Takami Y; Yamada K; Kobayashi H; Hasegawa Y; Sasai H; Otsuka H; Takeshima Y; Fukao T
    JIMD Rep; 2019 Jul; 48(1):19-25. PubMed ID: 31392109
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency.
    Rojnueangnit K; Maneechai P; Thaweekul P; Piriyanon P; Khositseth S; Ittiwut C; Chetruengchai W; Kamolvisit W; Theerapanon T; Suphapeetiporn K; Porntaveetus T; Shotelersuk V
    Eur J Med Genet; 2020 Dec; 63(12):104086. PubMed ID: 33045405
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel
    Zhang P; Hu X; Guo R; Guo J; Li W; Qian S; Hao C; Liu J
    Pediatr Investig; 2019 Jun; 3(2):86-90. PubMed ID: 32851297
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis.
    Conlon TA; Fitzsimons PE; Borovickova I; Kirby F; Murphy S; Knerr I; Crushell E
    JIMD Rep; 2020 Sep; 55(1):26-31. PubMed ID: 32905056
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency:
    Ago Y; Otsuka H; Sasai H; Abdelkreem E; Nakama M; Aoyama Y; Matsumoto H; Fujiki R; Ohara O; Akiyama K; Fukui K; Watanabe Y; Nakajima Y; Ohnishi H; Ito T; Fukao T
    Exp Ther Med; 2020 Nov; 20(5):39. PubMed ID: 32952630
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient.
    Heidari M; Soleyman-Nejad M; Isazadeh A; Shapouri J; Taskhiri MH; Ahangari R; Mohamadi AR; Ebrahimi M; Karimi H; Bolhassani M; Karimi Z; Heidari M
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1507. PubMed ID: 32969201
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.
    Wolf NI; Rahman S; Clayton PT; Zschocke J
    Eur J Pediatr; 2003 Apr; 162(4):279-80. PubMed ID: 12647205
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [3-hydroxy-3-methylglutaraciduria (case report of a female Turkish sisters with 3-hydroxy-3- methylglutaryl-Coenzyme A lyase deficiency].
    Koling S; Kalhoff H; Schauerte P; Lehnert W; Diekmann L
    Klin Padiatr; 2000; 212(3):113-6. PubMed ID: 10916782
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].
    Tan JQ; Chen DY; Li ZT; Huang JW; Yan TZ; Cai R
    Zhongguo Dang Dai Er Ke Za Zhi; 2016 Oct; 18(10):1019-1025. PubMed ID: 27751224
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The diagnosis of mitochondrial HMG-CoA synthase deficiency.
    Zschocke J; Penzien JM; Bielen R; Casals N; Aledo R; Pié J; Hoffmann GF; Hegardt FG; Mayatepek E
    J Pediatr; 2002 Jun; 140(6):778-80. PubMed ID: 12072887
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.
    Gibson KM; Breuer J; Nyhan WL
    Eur J Pediatr; 1988 Dec; 148(3):180-6. PubMed ID: 3063529
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.
    Köksal T; Gündüz M; Özaydın E; Azak E
    Indian J Pediatr; 2015 Jul; 82(7):645-8. PubMed ID: 25708061
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
    Muñoz-Bonet JI; Ortega-Sánchez MD; León Guijarro JL
    Ital J Pediatr; 2017 Jan; 43(1):12. PubMed ID: 28257639
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.