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 *

138 related articles for article (PubMed ID: 36271826)

  • 1. Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
    Sitaram S; Banka HC; Vassallo G; Pavaine J; Fairclough A; Wright R; Fairbanks L; Bierau J; Bowden L; Schwahn B; Horman A; Banka S
    Am J Med Genet A; 2023 Jan; 191(1):234-237. PubMed ID: 36271826
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.
    Van den Berghe G; Vincent MF; Jaeken J
    J Inherit Metab Dis; 1997 Jun; 20(2):193-202. PubMed ID: 9211192
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
    Jaeken J; Wadman SK; Duran M; van Sprang FJ; Beemer FA; Holl RA; Theunissen PM; de Cock P; van den Bergh F; Vincent MF
    Eur J Pediatr; 1988 Nov; 148(2):126-31. PubMed ID: 3234432
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.
    Macchiaiolo M; Barresi S; Cecconi F; Zanni G; Niceta M; Bellacchio E; Lazzarino G; Amorini AM; Bertini ES; Rizza S; Contardi B; Tartaglia M; Bartuli A
    Ital J Pediatr; 2017 Aug; 43(1):65. PubMed ID: 28768552
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.
    Mierzewska H; Schmidt-Sidor B; Lewandowska E; Grajkowska W; Kuśmierska K; Jurkiewicz E; Stepień T; Rafałowska J
    Folia Neuropathol; 2008; 46(1):81-91. PubMed ID: 18368630
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.
    Köhler M; Assmann B; Bräutigam C; Storm W; Marie S; Vincent MF; Van den Berghe G; Simmonds HA; Hoffmann GF
    Eur J Paediatr Neurol; 1999; 3(1):3-6. PubMed ID: 10727185
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.
    Krijt J; Skopova V; Adamkova V; Cermakova R; Jurecka A; Kmoch S; Zikanova M
    Clin Biochem; 2013 Dec; 46(18):1899-901. PubMed ID: 24183879
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Adenylosuccinate lyase deficiency: the first identified polish patient.
    Jurkiewicz E; Mierzewska H; Kuśmierska K
    Brain Dev; 2007 Oct; 29(9):600-2. PubMed ID: 17485188
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
    Chen BC; McGown IN; Thong MK; Pitt J; Yunus ZM; Khoo TB; Ngu LH; Duley JA
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S159-62. PubMed ID: 20177786
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.
    Andelman-Gur MM; Saitsu H; Matsumoto N; Spiegel R; Yosovich K; Lev D; Lerman-Sagie T; Blumkin L
    Eur J Med Genet; 2020 Dec; 63(12):104061. PubMed ID: 32890691
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
    Mastrogiorgio G; Macchiaiolo M; Buonuomo PS; Bellacchio E; Bordi M; Vecchio D; Brown KP; Watson NK; Contardi B; Cecconi F; Tartaglia M; Bartuli A
    Orphanet J Rare Dis; 2021 Mar; 16(1):112. PubMed ID: 33648541
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Adenylosuccinate lyase deficiency.
    Jurecka A; Zikanova M; Kmoch S; Tylki-Szymańska A
    J Inherit Metab Dis; 2015 Mar; 38(2):231-42. PubMed ID: 25112391
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
    Zulfiqar M; Lin DD; Van der Graaf M; Barker PB; Fahrner JA; Marie S; Morava E; De Boer L; Willemsen MA; Vining E; Horská A; Engelke U; Wevers RA; Maegawa GH
    J Magn Reson Imaging; 2013 Apr; 37(4):974-80. PubMed ID: 23055421
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients.
    Mierzewska H; Schmidt-Sidor B; Jurkiewicz E; Bogdańska A; Kuśmierska K; Stepień T
    Folia Neuropathol; 2009; 47(4):314-20. PubMed ID: 20054783
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
    Gitiaux C; Ceballos-Picot I; Marie S; Valayannopoulos V; Rio M; Verrieres S; Benoist JF; Vincent MF; Desguerre I; Bahi-Buisson N
    Eur J Hum Genet; 2009 Jan; 17(1):133-6. PubMed ID: 18830228
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
    Marie S; Cuppens H; Heuterspreute M; Jaspers M; Tola EZ; Gu XX; Legius E; Vincent MF; Jaeken J; Cassiman JJ; Van den Berghe G
    Hum Mutat; 1999; 13(3):197-202. PubMed ID: 10090474
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.
    Jurecka A; Zikanova M; Tylki-Szymanska A; Krijt J; Bogdanska A; Gradowska W; Mullerova K; Sykut-Cegielska J; Kmoch S; Pronicka E
    Mol Genet Metab; 2008 Aug; 94(4):435-442. PubMed ID: 18524658
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Adenylosuccinate lyase deficiency--first British case.
    Marinaki AM; Champion M; Kurian MA; Simmonds HA; Marie S; Vincent MF; van den Berghe G; Duley JA; Fairbanks LD
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1231-3. PubMed ID: 15571235
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.
    Cakmak Celik F; Ozlu MM; Ceylaner S
    Clin Neurol Neurosurg; 2021 Mar; 202():106506. PubMed ID: 33497949
    [No Abstract]   [Full Text] [Related]  

  • 20. ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy.
    Banerjee A; Bhatia V; Didwal G; Singh AK; Saini AG
    Indian J Pediatr; 2021 Mar; 88(3):263-265. PubMed ID: 32681428
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.