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La ricerca find articoli where soggetti phrase all words 'BYLER-DISEASE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 37 riferimenti
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    1. Arora, NK; Kohli, R; Gupta, DK; Bal, CS; Gupta, AK; Gupta, SD
      Hepatic technetium-99m-mebrofenin iminodiacetate scans and serum gamma-glutamyl transpeptidase levels interpreted in series to differentiate between extrahepatic biliary atresia and neonatal hepatitis

      ACTA PAEDIATRICA
    2. Ooi, BC; Phua, KB; Lee, BL; Tan, CEL; Ng, ISL; Quak, SH
      Lichenification and enlargement of hands and feet: A sign of progressive familial intrahepatic cholestasis with normal gamma-glutamyl-transpeptidase

      JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    3. Thompson, R; Strautnieks, S
      BSEP: Function and role in progressive familial intrahepatic cholestasis

      SEMINARS IN LIVER DISEASE
    4. Jacquemin, E
      Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: One gene for three diseases

      SEMINARS IN LIVER DISEASE
    5. Jansen, PLM; Muller, M; Sturm, E
      Genes and cholestasis

      HEPATOLOGY
    6. Eppens, EF; van Mil, SWC; de Vree, JM; Mok, KS; Juijn, JA; Elferink, RPJO; Berger, R; Houwen, RHJ; Klomp, LWJ
      FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte

      JOURNAL OF HEPATOLOGY
    7. Jacquemin, E; de Vree, JML; Cresteil, D; Sokal, EM; Sturm, E; Dumont, M; Scheffer, GL; Paul, M; Burdelski, M; Bosma, PJ; Bernard, O; Hadchouel, M; Elferink, RPJO
      The wide spectrum of multidrug resistance 3 deficiency: From neonatal cholestasis to cirrhosis of adulthood

      GASTROENTEROLOGY
    8. Colombo, C; Okolicsanyi, L; Strazzabosco, M
      Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications

      DIGESTIVE AND LIVER DISEASE
    9. Knisely, AS
      Progressive familial intrahepatic cholestasis: A personal perspective

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    10. Rebhandl, W; Felberbauer, FX; Huber, WD; Puig, S; Paya, K; Rauhofer, U; Saadi, S; Aberle, J; Horcher, E
      Progressive familial intrahepatic cholestasis (Byler disease): Current genetics and therapy

      KLINISCHE PADIATRIE
    11. Thompson, R; Jansen, PLM
      Genetic defects in hepatocanalicular transport

      SEMINARS IN LIVER DISEASE
    12. Klomp, LWJ; Bull, LN; Knisely, AS; van der Doelen, MAM; Juijn, JA; Berger, R; Forget, S; Nielsen, IM; Eiberg, H; Houwen, RHJ
      A missense mutation in FIC1 is associated with Greenland familial cholestasis

      HEPATOLOGY
    13. Jansen, PLM; Muller, M
      The molecular genetics of familial intrahepatic cholestasis

      GUT
    14. Melter, M; Rodeck, B; Kardorff, R; Hoyer, PF; Petersen, C; Ballauff, A; Brodehl, J
      Progressive familial intrahepatic cholestasis: Partial biliary diversion normalizes serum lipids and improves growth in noncirrhotic patients

      AMERICAN JOURNAL OF GASTROENTEROLOGY
    15. Dinler, G; Kocak, N; Ozen, H; Yuce, A; Gurakan, F
      Ursodeoxycholic acid treatment in children with Byler disease

      PEDIATRICS INTERNATIONAL
    16. Elferink, RPJO; Groen, AK
      The mechanism of biliary lipid secretion and its defects

      GASTROENTEROLOGY CLINICS OF NORTH AMERICA
    17. Jacquemin, E
      Progressive familial intrahepatic cholestasis

      JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
    18. Erlinger, S
      Molecular genetics of familial cholestasis.

      GASTROENTEROLOGIE CLINIQUE ET BIOLOGIQUE
    19. Shneider, BL
      Genetic cholestasis syndromes

      JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    20. Rebhandl, W; Felberbauer, FX; Turnbull, J; Paya, K; Barcik, U; Huber, WD; Whitington, PF; Horcher, E
      Biliary diversion by use of the appendix (cholecystoappendicostomy) in progressive familial intrahepatic cholestasis

      JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    21. Jacquemin, E; Hadchouel, M
      Genetic basis of progressive familial intrahepatic cholestasis

      JOURNAL OF HEPATOLOGY
    22. Janas, RM; Socha, J; Warnawin, K; Rujner, J
      Further studies on aminopeptidase-M in blood in children with cholestatic liver diseases and viral hepatitis

      DIGESTIVE DISEASES AND SCIENCES
    23. Oshima, T; Ikeda, K; Takasaka, T
      Sensorineural hearing loss associated with Byler disease

      TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
    24. Jansen, PLM; Strautnieks, SS; Jacquemin, E; Hadchouel, M; Sokal, EM; Hooiveld, GJEJ; Koning, JH; De Jager-Krikken, A; Kuipers, F; Stellaard, F; Bijleveld, CMA; Gouw, A; Van Goor, H; Thompson, RJ; Muller, M
      Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis

      GASTROENTEROLOGY
    25. STRAUTNIEKS SS; BULL LN; KNISELY AS; KOCOSHIS S; DAHL N; ARNELL H; SOKAL E; DAHAN K; CHILDS S; LING V; TANNER MS; KAGALWALLA AF; NEMETH A; PAWLOWSKA J; BAKER A; MIELIVERGANI G; FREIMER NB; GARDINER RM; THOMPSON RJ
      A GENE ENCODING A LIVER-SPECIFIC ABC TRANSPORTER IS MUTATED IN PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS

      Nature genetics
    26. BULL LN; VANEIJK MJT; PAWLIKOWSKA L; DEYOUNG JA; JUIJN JA; LIAO M; KLOMP LWJ; LOMRI N; BERGER R; SCHARSCHMIDT BF; KNISELY AS; HOUWEN RHJ; FREIMER NB
      A GENE ENCODING A P-TYPE ATPASE MUTATED IN 2 FORMS OF HEREDITARY CHOLESTASIS

      Nature genetics
    27. JACQUEMIN E
      PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLEST ASIS AND HEREDITARY ANOMALIES CONCERNING HEPATOCELLULAR METABOLISM OF BILE-ACIDS

      Archives de pediatrie
    28. MOSELEY RH
      WHAT THE AMISH CAN TELL US ABOUT - CHOLESTASIS

      Hepatology
    29. DEVREE JML; JACQUEMIN E; STURM E; CRESTEIL D; BOSMA PJ; ATEN J; DELEUZE JF; DESROCHERS M; BURDELSKI M; BERNARD O; ELFERINK RPJO; HADCHOUEL M
      MUTATIONS IN THE MDR3 GENE CAUSE PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS

      Proceedings of the National Academy of Sciences of the United Statesof America
    30. NAVEH Y; BASSAN L; ROSENTHAL E; BERKOWITZ D; JAFFE M; MANDEL H; BERANT M
      PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS AMONG THE ARAB POPULATION IN ISRAEL

      Journal of pediatric gastroenterology and nutrition
    31. JACQUEMIN E; HERMANS D; MYARA A; HABES D; DEBRAY D; HADCHOUEL M; SOKAL EM; BERNARD O
      URSODEOXYCHOLIC ACID THERAPY IN PEDIATRIC-PATIENTS WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS

      Hepatology
    32. WIECHMANN DA; HEUBI JH
      PEDIATRIC HEPATOBILIARY DISEASE

      Current opinion in gastroenterology
    33. SELAHERMAN S; BULL L; LOMRI N; RAHMAOUI C; LUTHER T; HAMMERMAN P; GENANT J; FREIMER N; SCHARSCHMIDT B
      IN SEARCH OF A GENE FOR HEREDITARY CHOLESTASIS

      Biochemical and molecular medicine
    34. BOURKE B; GOGGIN N; WALSH D; KENNEDY S; SETCHELL KDR; DRUMM B
      BYLER-LIKE FAMILIAL CHOLESTASIS IN AN EXTENDED KINDRED

      Archives of Disease in Childhood
    35. JACQUEMIN E; DUMONT M; BERNARD O; ERLINGER S; HADCHOUEL M
      EVIDENCE FOR DEFECTIVE PRIMARY BILE-ACID SECRETION IN CHILDREN WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (BYLER DISEASE)

      European journal of pediatrics
    36. ALONSO EM; SNOVER DC; MONTAG A; FREESE DK; WHITINGTON PF
      HISTOLOGIC PATHOLOGY OF THE LIVER IN PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS

      Journal of pediatric gastroenterology and nutrition
    37. WHITINGTON PF; FREESE DK; ALONSO EM; SCHWARZENBERG SJ; SHARP HL
      CLINICAL AND BIOCHEMICAL FINDINGS IN PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS

      Journal of pediatric gastroenterology and nutrition


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Documento generato il 22/10/20 alle ore 20:44:28