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La ricerca find articoli where soggetti phrase all words '4-hydroxybutyric aciduria' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 18 riferimenti
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    1. Hogema, BM; Akaboshi, S; Taylor, M; Salomons, GS; Jakobs, C; Schutgens, RB; Wilcken, B; Worthington, S; Maropoulos, G; Grompe, M; Gibson, KM
      Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: Increased accuracy employing DNA, enzyme, and metabolite analyses

      MOLECULAR GENETICS AND METABOLISM
    2. Ishiguro, Y; Kajita, M; Aoshima, T; Watanabe, K; Kimura, M; Yamaguchi, S
      The first case of 4-hydroxybutyric aciduria in Japan

      BRAIN & DEVELOPMENT
    3. Al-Essa, MA; Bakheet, SM; Patay, ZJ; Powe, JE; Ozand, PT
      Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease

      BRAIN & DEVELOPMENT
    4. TUNNICLIFF G
      SITES OF ACTION OF GAMMA-HYDROXYBUTYRATE (GHB) - A NEUROACTIVE DRUG WITH ABUSE POTENTIAL

      Journal of toxicology. Clinical toxicology
    5. MAITRE M
      THE GAMMA-HYDROXYBUTYRATE SIGNALING SYSTEM IN BRAIN - ORGANIZATION AND FUNCTIONAL IMPLICATIONS

      Progress in neurobiology
    6. GIBSON KM; DOSKEY AE; RABIER D; JAKOBS C; MORLAT C
      DIFFERING CLINICAL PRESENTATION OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY IN ADOLESCENT SIBLINGS FROM LIFU ISLAND, NEW-CALEDONIA

      Journal of inherited metabolic disease
    7. PITT JJ; HAWKINS R; CLEARY M; EGGINGTON M; THORBURN DR; WARWICK L
      SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY - LOW EXCRETION OF METABOLITES IN A NEONATE

      Journal of inherited metabolic disease
    8. GIBSON KM; CHRISTENSEN E; JAKOBS C; FOWLER B; CLARE MA; HAMMERSEN G; RAAB K; KOBORI J; MOOSA A; VOLLMER B; ROSSIER E; IAFOLLA AK; MATERN D; BROUWER OF; FINELSTEIN J; AKSU F; WEBER HP; BAKKEREN JAJM; GABREELS FJM; BLUESTONE D; BARRON TF; BEAUVAIS P; RABIER D; SANTOS C; UMANSKY R; LEHNERT W
      THE CLINICAL PHENOTYPE OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY (4-HYDROXYBUTYRIC ACIDURIA) - CASE-REPORTS OF 23 NEW PATIENTS

      Pediatrics
    9. MATERN D; LEHNERT W; GIBSON KM; KORINTHENBERG R
      SEIZURES IN A BOY WITH SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCYTREATED WITH VIGABATRIN (GAMMA-VINYL-GABA)

      Journal of inherited metabolic disease
    10. DIETZ B; AKSU F; AGUIGAH G; WITTING W; AYGEN S; LEHNERT W; JAKOBS C
      VIGABATRIN THERAPY IN A 7 YEARS OLD BOY W ITH SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY

      Monatsschrift fur Kinderheilkunde
    11. OPP J; RAAB K; JAKOBS C; LEHNERT W; GIBSON KM
      SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFIC IENCY IN 2 SIBLINGS

      Monatsschrift fur Kinderheilkunde
    12. GIBSON KM; JAKOBS C; OGIER H; HAGENFELDT L; EEGOLOFSSON KE; EEGOLOFSSON O; AKSU F; WEBER HP; ROSSIER E; VOLLMER B; LEHNERT W
      VIGABATRIN THERAPY IN 6 PATIENTS WITH SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY

      Journal of inherited metabolic disease
    13. RASHED M; OZAND PT; ALAQEEL A; GASCON GG
      EXPERIENCE OF KING-FAISAL-SPECIALIST-HOSPITAL AND RESEARCH-CENTER WITH SAUDI ORGANIC-ACID DISORDERS - INTRODUCTION

      Brain & development
    14. HOFFMANN GF; GIBSON KM; TREFZ FK; NYHAN WL; BREMER HJ; RATING D
      NEUROLOGICAL MANIFESTATIONS OF ORGANIC-ACID DISORDERS

      European journal of pediatrics
    15. GIBSON KM; BAUMANN C; OGIER H; ROSSIER E; VOLLMER B; JAKOBS C
      PRENATAL AND POSTNATAL DIAGNOSIS OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY USING ENZYME AND METABOLITE ASSAYS

      Journal of inherited metabolic disease
    16. THORBURN DR; THOMPSON GN; HOWELLS DW
      A FLUOROMETRIC ASSAY FOR SUCCINIC SEMIALDEHYDE DEHYDROGENASE-ACTIVITYSUITABLE FOR PRENATAL-DIAGNOSIS OF THE ENZYME DEFICIENCY

      Journal of inherited metabolic disease
    17. HOFFMANN GF; MEIERAUGENSTEIN W; STOCKLER S; SURTEES R; RATING D; NYHAN WL
      PHYSIOLOGY AND PATHOPHYSIOLOGY OF ORGANIC-ACIDS IN CEREBROSPINAL-FLUID

      Journal of inherited metabolic disease
    18. JAKOBS C; JAEKEN J; GIBSON KM
      INHERITED DISORDERS OF GABA-METABOLISM

      Journal of inherited metabolic disease


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/08/20 alle ore 23:56:57