BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 36654993)

  • 21. A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.
    Ryder B; Tolomeo M; Nochi Z; Colella M; Barile M; Olsen RK; Inbar-Feigenberg M
    JIMD Rep; 2019; 45():37-44. PubMed ID: 30311138
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
    Zhuo Z; Jin P; Li F; Li H; Chen X; Wang H
    J Neurol Sci; 2015; 353(1-2):84-6. PubMed ID: 25913573
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
    Hu G; Zeng J; Wang C; Zhou W; Jia Z; Yang J; Zheng B
    Front Pediatr; 2020; 8():118. PubMed ID: 32292771
    [No Abstract]   [Full Text] [Related]  

  • 24. Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager.
    Prasad M; Hussain S
    J Child Neurol; 2015 Jan; 30(1):96-9. PubMed ID: 24453145
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat.
    Wakitani S; Torisu S; Yoshino T; Hattanda K; Yamato O; Tasaki R; Fujita H; Nishino K
    JIMD Rep; 2014; 13():43-51. PubMed ID: 24142280
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
    Bisschoff M; Smuts I; Dercksen M; Schoonen M; Vorster BC; van der Watt G; Spencer C; Naidu K; Henning F; Meldau S; McFarland R; Taylor RW; Patel K; Fassad MR; Vandrovcova J; ; Wanders RJA; van der Westhuizen FH
    Orphanet J Rare Dis; 2024 Jan; 19(1):15. PubMed ID: 38221620
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects.
    Lupica A; Oteri R; Volta S; Ghezzi D; Drago SFA; Rodolico C; Musumeci O; Toscano A
    Front Neurol; 2022; 13():815523. PubMed ID: 35309592
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report.
    Tian H; Zhong Y; Liu Z; Wei L; Yuan Y; Zhang Y; Wang L
    Front Neurol; 2022; 13():991060. PubMed ID: 36588907
    [TBL] [Abstract][Full Text] [Related]  

  • 29. ETF-QO Mutants Uncoupled Fatty Acid β-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
    Chokchaiwong S; Kuo YT; Hsu SP; Hsu YC; Lin SH; Zhong WB; Lin YF; Kao SH
    Cells; 2019 Jan; 8(2):. PubMed ID: 30709034
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
    Chen W; Zhang Y; Ni Y; Cai S; Zheng X; Mastaglia FL; Wu J
    BMC Neurol; 2019 Dec; 19(1):330. PubMed ID: 31852447
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure.
    Izumi R; Suzuki N; Nagata M; Hasegawa T; Abe Y; Saito Y; Mochizuki H; Tateyama M; Aoki M
    Intern Med; 2011; 50(21):2663-8. PubMed ID: 22041377
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
    Ding M; Liu R; Qiubo L; Zhang Y; Kong Q
    Medicine (Baltimore); 2020 Sep; 99(37):e21944. PubMed ID: 32925727
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.
    Mereis M; Wanders RJA; Schoonen M; Dercksen M; Smuts I; van der Westhuizen FH
    Int J Biochem Cell Biol; 2021 Mar; 132():105899. PubMed ID: 33279678
    [TBL] [Abstract][Full Text] [Related]  

  • 34. FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
    Muru K; Reinson K; Künnapas K; Lilleväli H; Nochi Z; Mosegaard S; Pajusalu S; Olsen RKJ; Õunap K
    Mol Genet Genomic Med; 2019 Sep; 7(9):e915. PubMed ID: 31392824
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.
    Wang ZQ; Chen XJ; Murong SX; Wang N; Wu ZY
    J Mol Med (Berl); 2011 Jun; 89(6):569-76. PubMed ID: 21347544
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
    Goh LL; Lee Y; Tan ES; Lim JSC; Lim CW; Dalan R
    BMC Med Genomics; 2018 Apr; 11(1):37. PubMed ID: 29615056
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.
    Wen B; Li D; Shan J; Liu S; Li W; Zhao Y; Lin P; Zheng J; Li D; Gong Y; Yan C
    Mol Genet Metab; 2013 Jun; 109(2):154-60. PubMed ID: 23628458
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
    Lin Y; Zhang W; Chen Z; Lin C; Lin W; Fu Q; Peng W; Chen D
    J Pediatr Endocrinol Metab; 2021 May; 34(5):649-652. PubMed ID: 33823107
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation.
    Rao NN; Burns K; Manolikos C; Hodge S
    BMJ Case Rep; 2023 May; 16(5):. PubMed ID: 37217231
    [TBL] [Abstract][Full Text] [Related]  

  • 40. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
    Gempel K; Topaloglu H; Talim B; Schneiderat P; Schoser BG; Hans VH; Pálmafy B; Kale G; Tokatli A; Quinzii C; Hirano M; Naini A; DiMauro S; Prokisch H; Lochmüller H; Horvath R
    Brain; 2007 Aug; 130(Pt 8):2037-44. PubMed ID: 17412732
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.