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 *

229 related articles for article (PubMed ID: 21046290)

  • 21. Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study.
    Han J; Song X; Lu S; Ji G; Xie Y; Wu H
    Med Sci Monit; 2019 Nov; 25():9103-9111. PubMed ID: 31785094
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
    Béhin A; Acquaviva-Bourdain C; Souvannanorath S; Streichenberger N; Attarian S; Bassez G; Brivet M; Fouilhoux A; Labarre-Villa A; Laquerrière A; Pérard L; Kaminsky P; Pouget J; Rigal O; Vanhulle C; Eymard B; Vianey-Saban C; Laforêt P
    Rev Neurol (Paris); 2016 Mar; 172(3):231-41. PubMed ID: 27038534
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Spectrum of metabolic myopathies.
    Angelini C
    Biochim Biophys Acta; 2015 Apr; 1852(4):615-21. PubMed ID: 24997454
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Ichthyosis, cataracts, and motor delay in an infant: A case of Chanarin-Dorfman syndrome.
    Luu Y; Pithadia DJ; Teng J; Khuu P
    Pediatr Dermatol; 2023; 40(5):879-881. PubMed ID: 36709747
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Dorfman-Chanarin syndrome--a neutral lipid storage disease].
    Wollenberg A; Schaller M; Röschinger W; Schirren CG; Wolff H
    Hautarzt; 1997 Oct; 48(10):753-8. PubMed ID: 9441170
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.
    Whitaker CH; Felice KJ; Silvers D; Wu Q
    Muscle Nerve; 2015 Aug; 52(2):289-93. PubMed ID: 25556768
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene.
    Al-Hage J; Abbas O; Nemer G; Kurban M
    Clin Exp Dermatol; 2020 Mar; 45(2):257-259. PubMed ID: 31486100
    [No Abstract]   [Full Text] [Related]  

  • 29. Clinical findings and autophagic pathology in neutral lipid storage disease with myopathy.
    Hong D; Zheng J; Xin L; Xiang Y; Luan X; Cao L; Cong L; Fang P; Zhang J
    Clin Neuropathol; 2019; 38(4):157-167. PubMed ID: 30738494
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant.
    Yamada K; Yaguchi H; Abe M; Ishikawa K; Tanaka D; Oshima Y; Kudo A; Uwatoko H; Shirai S; Takahashi-Iwata I; Matsushima M; Nishino I; Yabe I
    Clin Neurol Neurosurg; 2023 May; 228():107670. PubMed ID: 36996668
    [No Abstract]   [Full Text] [Related]  

  • 31. Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.
    Durdu M; Missaglia S; Moro L; Tavian D
    BMC Med Genet; 2018 May; 19(1):88. PubMed ID: 29843625
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Investigation of adult-onset multiple acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.
    Huang K; Duan HQ; Li QX; Luo YB; Yang H
    Neuropathology; 2020 Dec; 40(6):531-539. PubMed ID: 32608139
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.
    Turnbull DM; Bartlett K; Stevens DL; Alberti KG; Gibson GJ; Johnson MA; McCulloch AJ; Sherratt HS
    N Engl J Med; 1984 Nov; 311(19):1232-6. PubMed ID: 6493275
    [No Abstract]   [Full Text] [Related]  

  • 34. Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China.
    Tan J; Yang H; Fan J; Fan Y; Xiao F
    Clin Neurol Neurosurg; 2018 May; 168():102-107. PubMed ID: 29539587
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function.
    Radner FP; Fischer J
    Biochim Biophys Acta; 2014 Mar; 1841(3):409-15. PubMed ID: 23928127
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.
    Liu XY; Jin M; Wang ZQ; Wang DN; He JJ; Lin MT; Fu HX; Wang N
    Chin Med J (Engl); 2016 Jun; 129(12):1425-31. PubMed ID: 27270537
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Multiple acyl-CoA dehydrogenase deficiency (MADD): a curable cause of genetic muscular lipidosis].
    Maillart E; Acquaviva-Bourdain C; Rigal O; Brivet M; Jardel C; Lombès A; Eymard B; Vianey-Saban C; Laforêt P
    Rev Neurol (Paris); 2010 Mar; 166(3):289-94. PubMed ID: 19592060
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Needle EMG, a Jigsaw to Disclose Lipid Storage Myopathy Due to Multiple Acyl-CoA Dehydrogenase Deficiency.
    Santananukarn M; Amornvit J; Pasutharnchat N; Jongpiputvanich S
    Am J Phys Med Rehabil; 2020 Jun; 99(6):e71-e74. PubMed ID: 31136308
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.
    Nur BG; Gencpinar P; Yuzbasıoglu A; Emre SD; Mihci E
    Eur J Med Genet; 2015 Apr; 58(4):238-42. PubMed ID: 25682902
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Neutral lipid storage disease with unusual presentation: report of three cases.
    Singh S; Sharma S; Agarwal S; Nangia A; Chander R; Varghese B
    Pediatr Dermatol; 2012; 29(3):341-4. PubMed ID: 21575048
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.