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La ricerca find articoli where authors phrase all words ' KRASNEWICH D' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 24 riferimenti
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    1. Tayebi, N; Callahan, M; Madike, V; Stubblefield, BK; Orvisky, E; Krasnewich, D; Fillano, JJ; Sidransky, E
      Gaucher disease and parkinsonism: A phenotypic and genotypic characterization

      MOLECULAR GENETICS AND METABOLISM
    2. Pearl, PL; Krasnewich, D
      Neurologic course of congenital disorders of glycosylation

      JOURNAL OF CHILD NEUROLOGY
    3. Aebi, M; Helenius, A; Schenk, B; Barone, R; Fiumara, A; Berger, EG; Hennet, T; Imbach, T; Stutz, A; Bjursell, C; Uller, A; Wahlstrom, JG; Briones, P; Cardo, E; Clayton, P; Winchester, B; Cormier-Daire, V; de Lonlay, P; Cuer, M; Dupre, T; Seta, N; de Koning, T; Dorland, L; de Loos, F; Kupers, L; Fabritz, L; Hasilik, M; Marquardt, T; Niehues, R; Freeze, H; Grunewald, S; Heykants, L; Jaeken, J; Matthijs, G; Schollen, E; Keir, G; Kjaergaard, S; Schwartz, M; Skovby, F; Klein, A; Roussel, P; Korner, C; Lubke, T; Thiel, C; von Figura, K; Koscielak, J; Krasnewich, D; Lehle, L; Peters, V; Raab, M; Saether, O; Schachter, H; Van Schaftingen, E; Verbert, A; Vilaseca, A; Wevers, R; Yamashita, K
      Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG

      GLYCOBIOLOGY
    4. Stone, DL; Ginns, EI; Krasnewich, D; Sidransky, E
      Life-threatening splenic hemorrhage in two patients with Gaucher disease

      AMERICAN JOURNAL OF HEMATOLOGY
    5. Orvisky, E; Sidransky, E; McKinney, CE; LaMarca, ME; Samimi, R; Krasnewich, D; Martin, BM; Ginns, EI
      Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation

      PEDIATRIC RESEARCH
    6. Davis, J; Krasnewich, D; Puck, JM
      Genetic testing and screening in pediatric populations

      NURSING CLINICS OF NORTH AMERICA
    7. Davis, RL; Shrimpton, AE; Holohan, PD; Bradshaw, C; Feiglin, D; Collins, GH; Sonderegger, P; Kinter, J; Becker, LM; Lacbawan, F; Krasnewich, D; Muenke, M; Lawrence, DA; Yerby, MS; Shaw, CM; Gooptu, B; Elliott, PR; Finch, JT; Carrell, RW; Lomas, DA
      Familial dementia caused by polymlerization of mutant neurosergin

      NATURE
    8. KUMRA S; KRASNEWICH D; RAPOPORT JL
      ASSOCIATION OF SEX-CHROMOSOME ANOMALIES WITH CHILDHOOD-ONSET PSYCHOTIC DISORDERS

      Schizophrenia research
    9. KUMRA S; WIGGS E; KRASNEWICH D; MECK J; SMITH ACM; BEDWELL J; FERNANDEZ T; JACOBSEN LK; LENANE M; RAPOPORT JL
      BRIEF REPORT - ASSOCIATION OF SEX-CHROMOSOME ANOMALIES WITH CHILDHOOD-ONSET PSYCHOTIC DISORDERS

      Journal of the American Academy of Child and Adolescent Psychiatry
    10. PEARL PL; KRASNEWICH D; GAILLARD WD; WEINSTEIN SL; CONRY JA; VEZINA LG; DUBOVSKY E; KROHN KA; PACKER RJ
      NEUROLOGICAL COURSE AND COMPLICATIONS IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

      Annals of neurology
    11. KRASNEWICH D; DIETRICH K; BAUER L; GINNS EI; SIDRANSKY E
      SPLENECTOMY IN GAUCHER-DISEASE - NEW MANAGEMENT DILEMMAS

      Blood
    12. ORVISKY E; STJOHN E; PARKER M; SIDRANSKY E; MARTIN BM; GINNS EI; KRASNEWICH D
      CARBOHYDRATE-DEFICIENT-GLYCOPROTEIN-SYNDROME CORRELATION OF IN-VITRO 2(H-3)MANNOSE METABOLIC LABELING STUDIES WITH PHOSPHOMANNOMUTASE ACTIVITY (PMM) - PMM DETERMINED BY DIRECT ANALYSIS OF MANNOSE-1-PHOSPHATE TO MANNOSE-6-PHOSPHATE INTERCONVERSION

      Glycobiology
    13. ANIKSTER Y; GROPMAN A; LEWANDA AF; TIFFT C; SCHONBERG S; KRASNEWICH D
      PARTIAL TRISOMY 10P FROM MATERNAL PERICENTRIC-INVERSION WITH SEVERE NEUROLOGIC SEQUELAE

      American journal of human genetics
    14. GRAF M; COPENHEAVERHUNG D; WEINSTEIN S; CHANDRA S; TIFFT C; KRASNEWICH D
      PENA-SHOKEIR PHENOTYPE IN AN INFANT WITH 47,XYY

      American journal of human genetics
    15. KUMRA S; WIGGS E; JACOBSEN LK; KRASNEWICH D; SMITH ACM; MECK J; BEDWELL J; LENANE M; RAPOPORT JL
      AN ASSOCIATION BETWEEN SEX-CHROMOSOME ANOMALIES AND CHILDHOOD PSYCHOSIS

      American journal of human genetics
    16. ORVISKY E; MCKINNEY CE; KRASNEWICH D; ELIASON WK; TAYEBI N; MARTIN BM; GINNS EI; SIDRANSKY E
      GLUCOSYLSPHINGOSINE ACCUMULATION IN THE BRAIN, LIVER, AND SPLEEN OF TYPE-2 GAUCHER MICE

      American journal of human genetics
    17. TAYEBI N; REISSNER K; ORVISKY E; EHLERT M; MARTIN BM; SIDRANSKY E; GINNS EI; KRASNEWICH D
      ANALYSIS OF A PHOSPHOMANNOMUTASE-2 GENE IN AMERICAN PATIENTS WITH TYPE-1 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (CDGS)

      American journal of human genetics
    18. TUCKER L; MAKHLOUF S; DAVIS L; KRASNEWICH D; ANDERSON B
      REACTIVITY OF A MONOCLONAL-ANTIBODY TO TRANSFERRINS FROM CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES

      The FASEB journal
    19. KRASNEWICH D; BERNARDINI I; ROUHANI F; BRANTLY M; HOLT G; GAHL W
      BIOCHEMICAL HETEROGENEITY IN TYPE-1 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (CDGS)

      Pediatric research
    20. HAHN SH; KRASNEWICH D; BRANTLY M; KVITTINGEN EA; GAHL WA
      HETEROZYGOSITY FOR AN EXON-12 SPLICING MUTATION AND A W234G MISSENSE MUTATION IN AN AMERICAN CHILD WITH CHRONIC TYROSINEMIA TYPE-1

      Human mutation
    21. GAHL W; GUO J; KRASNEWICH D; BERNARDINI I; HOLT G
      C-85 DOLICHOLS IN SLOUGHED RENAL-CELLS OF PATIENTS WITH HERMANSKY-PUDLAK SYNDROME (HPS)

      American journal of human genetics
    22. GORDON CT; KRASNEWICH D; WHITE B; LENANE M; RAPOPORT JL
      TRANSLOCATION INVOLVING CHROMOSOME-1 AND CHROMOSOME-7 IN A BOY WITH CHILDHOOD-ONSET SCHIZOPHRENIA

      Journal of autism and developmental disorders
    23. THEODOROPOULOS DS; KRASNEWICH D; KAISERKUPFER MI; GAHL WA
      CLASSIC NEPHROPATHIC CYSTINOSIS AS AN ADULT DISEASE

      JAMA, the journal of the American Medical Association
    24. OSHIRO S; NAKAJIMA H; MARKELLO T; KRASNEWICH D; BERNARDINI I; GAHL WA
      REDOX, TRANSFERRIN-INDEPENDENT, AND RECEPTOR-MEDIATED ENDOCYTOSIS IRON UPTAKE SYSTEMS IN CULTURED HUMAN FIBROBLASTS

      The Journal of biological chemistry


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/05/20 alle ore 04:28:01