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 *

115 related articles for article (PubMed ID: 9934985)

  • 1. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.
    Shaag A; Saada A; Berger I; Mandel H; Joseph A; Feigenbaum A; Elpeleg ON
    Am J Med Genet; 1999 Jan; 82(2):177-82. PubMed ID: 9934985
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.
    Shany E; Saada A; Landau D; Shaag A; Hershkovitz E; Elpeleg ON
    Biochem Biophys Res Commun; 1999 Aug; 262(1):163-6. PubMed ID: 10448086
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence.
    Elpeleg ON; Shaag A; Glustein JZ; Anikster Y; Joseph A; Saada A
    Hum Mutat; 1997; 10(3):256-7. PubMed ID: 9298831
    [No Abstract]   [Full Text] [Related]  

  • 4. NOD2/CARD15 genotype and phenotype differences between Ashkenazi and Sephardic Jews with Crohn's disease.
    Karban A; Waterman M; Panhuysen CI; Pollak RD; Nesher S; Datta L; Weiss B; Suissa A; Shamir R; Brant SR; Eliakim R
    Am J Gastroenterol; 2004 Jun; 99(6):1134-40. PubMed ID: 15180737
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
    Tein I; Elpeleg O; Ben-Zeev B; Korman SH; Lossos A; Lev D; Lerman-Sagie T; Leshinsky-Silver E; Vockley J; Berry GT; Lamhonwah AM; Matern D; Roe CR; Gregersen N
    Mol Genet Metab; 2008 Feb; 93(2):179-89. PubMed ID: 18054510
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
    Kollberg G; Tulinius M; Melberg A; Darin N; Andersen O; Holmgren D; Oldfors A; Holme E
    Brain; 2009 Aug; 132(Pt 8):2170-9. PubMed ID: 19567699
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.
    Cerna L; Wenchich L; Hansiková H; Kmoch S; Peskova K; Chrastina P; Brynda J; Zeman J
    Med Sci Monit; 2001; 7(6):1319-25. PubMed ID: 11687750
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.
    Sansaricq C; Pardo S; Balwani M; Grace M; Raymond K
    J Inherit Metab Dis; 2006 Feb; 29(1):203-4. PubMed ID: 16601893
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
    Odièvre MH; Chretien D; Munnich A; Robinson BH; Dumoulin R; Masmoudi S; Kadhom N; Rötig A; Rustin P; Bonnefont JP
    Hum Mutat; 2005 Mar; 25(3):323-4. PubMed ID: 15712224
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.
    Haviv R; Zeharia A; Belaiche C; Haimi Cohen Y; Saada A
    Eur J Pediatr; 2014 Feb; 173(2):243-5. PubMed ID: 23995961
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutations associated with carnitine palmitoyltransferase II deficiency.
    Taggart RT; Smail D; Apolito C; Vladutiu GD
    Hum Mutat; 1999; 13(3):210-20. PubMed ID: 10090476
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.
    Lossos A; Meiner Z; Barash V; Soffer D; Schlesinger I; Abramsky O; Argov Z; Shpitzen S; Meiner V
    Ann Neurol; 1998 Dec; 44(6):867-72. PubMed ID: 9851430
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
    Morel CF; Lerner-Ellis JP; Rosenblatt DS
    Mol Genet Metab; 2006 Aug; 88(4):315-21. PubMed ID: 16714133
    [TBL] [Abstract][Full Text] [Related]  

  • 14. ATP synthesis in lipoamide dehydrogenase deficiency.
    Saada A; Aptowitzer I; Link G; Elpeleg ON
    Biochem Biophys Res Commun; 2000 Mar; 269(2):382-6. PubMed ID: 10708561
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
    Laforêt P; Acquaviva-Bourdain C; Rigal O; Brivet M; Penisson-Besnier I; Chabrol B; Chaigne D; Boespflug-Tanguy O; Laroche C; Bedat-Millet AL; Behin A; Delevaux I; Lombès A; Andresen BS; Eymard B; Vianey-Saban C
    Neuromuscul Disord; 2009 May; 19(5):324-9. PubMed ID: 19327992
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular and biochemical investigations in fumarase deficiency.
    Deschauer M; Gizatullina Z; Schulze A; Pritsch M; Knöppel C; Knape M; Zierz S; Gellerich FN
    Mol Genet Metab; 2006 Jun; 88(2):146-52. PubMed ID: 16510303
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Variation at NOD2/CARD15 in familial and sporadic cases of Crohn's disease in the Ashkenazi Jewish population.
    Zhou Z; Lin XY; Akolkar PN; Gulwani-Akolkar B; Levine J; Katz S; Silver J
    Am J Gastroenterol; 2002 Dec; 97(12):3095-101. PubMed ID: 12492195
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Liver disease in the Ashkenazi-Jewish lipoamide dehydrogenase deficiency.
    Aptowitzer I; Saada A; Faber J; Kleid D; Elpeleg ON
    J Pediatr Gastroenterol Nutr; 1997 May; 24(5):599-601. PubMed ID: 9161958
    [No Abstract]   [Full Text] [Related]  

  • 20. Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
    Brassier A; Ottolenghi C; Boutron A; Bertrand AM; Valmary-Degano S; Cervoni JP; Chrétien D; Arnoux JB; Hubert L; Rabier D; Lacaille F; de Keyzer Y; Di Martino V; de Lonlay P
    Mol Genet Metab; 2013 May; 109(1):28-32. PubMed ID: 23478190
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.