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Journal Abstract Search

211 related items for PubMed ID: 15287248

  • 1. Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).
    Philippe A, Deron J, Geneviève D, de Lonlay P, Gibson KM, Rabier D, Munnich A.
    Dev Med Child Neurol; 2004 Aug; 46(8):564-8. PubMed ID: 15287248
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  • 2. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
    Gibson KM, Christensen E, Jakobs C, Fowler B, Clarke MA, Hammersen G, Raab K, Kobori J, Moosa A, Vollmer B, Rossier E, Iafolla AK, Matern D, Brouwer OF, Finkelstein J, Aksu F, Weber HP, Bakkeren JA, Gabreels FJ, Bluestone D, Barron TF, Beauvais P, Rabier D, Santos C, Lehnert W.
    Pediatrics; 1997 Apr; 99(4):567-74. PubMed ID: 9093300
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  • 3. 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.
    Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C.
    Neuropediatrics; 1998 Feb; 29(1):14-22. PubMed ID: 9553943
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  • 4. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria).
    Gibson KM, Gupta M, Pearl PL, Tuchman M, Vezina LG, Snead OC, Smit LM, Jakobs C.
    Biol Psychiatry; 2003 Oct 01; 54(7):763-8. PubMed ID: 14512218
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  • 7. Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.
    Knerr I, Gibson KM, Jakobs C, Pearl PL.
    CNS Spectr; 2008 Jul 01; 13(7):598-605. PubMed ID: 18622364
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  • 9. Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.
    Ethofer T, Seeger U, Klose U, Erb M, Kardatzki B, Kraft E, Landwehrmeyer GB, Grodd W, Storch A.
    Neurology; 2004 Mar 23; 62(6):1016-8. PubMed ID: 15037717
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  • 12. Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.
    Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM.
    J Inherit Metab Dis; 2007 Jun 23; 30(3):279-94. PubMed ID: 17457693
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  • 17. Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.
    Wolf NI, Haas D, Hoffmann GF, Jakobs C, Salomons GS, Wevers RA, Engelke UF, Rating D.
    J Inherit Metab Dis; 2004 Jun 23; 27(2):291-3. PubMed ID: 15243989
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  • 18. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
    Zeiger WA, Sun LR, Bosemani T, Pearl PL, Stafstrom CE.
    Pediatr Neurol; 2016 May 23; 58():113-5. PubMed ID: 27268762
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  • 19. Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity.
    Lee HHC, Pearl PL, Rotenberg A.
    J Child Neurol; 2021 Nov 23; 36(13-14):1200-1209. PubMed ID: 33624531
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  • 20. [Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin].
    Escalera GI, Ferrer I, Marina LC, Sala PR, Salomons GS, Jakobs C, Pérez-Cerdá C.
    An Pediatr (Barc); 2010 Feb 23; 72(2):128-32. PubMed ID: 20018576
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