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La ricerca find articoli where soggetti phrase all words 'LYSINURIC PROTEIN INTOLERANCE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 39 riferimenti
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    1. Font, M; Feliubadalo, L; Estivill, X; Nunes, V; Golomb, E; Kreiss, Y; Pras, E; Bisceglia, L; d'Adamo, AP; Zelante, L; Gasparini, P; Bassi, MT; George, AL; Manzoni, M; Riboni, M; Ballabio, A; Borsani, G; Reig, N; Fernandez, E; Zorzano, A; Bertran, J; Palacin, M
      Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria

      HUMAN MOLECULAR GENETICS
    2. Zelikovic, I
      Molecular pathophysiology of tubular transport disorders

      PEDIATRIC NEPHROLOGY
    3. Wagner, CA; Lang, F; Broer, S
      Function and structure of heterodimeric amino acid transporters

      AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
    4. Chillaron, J; Roca, R; Valencia, A; Zorzano, A; Palacin, M
      Heteromeric amino acid transporters: biochemistry, genetics, and physiology

      AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
    5. Hennemann, G; Docter, R; Friesema, ECH; De Jong, M; Krenning, EP; Visser, TJ
      Plasma membrane transport of thyroid hormones and its role in thyroid hormone metabolism and bioavailability

      ENDOCRINE REVIEWS
    6. Battaglia, FC; Regnault, TRH
      Placental transport and metabolism of amino acids

      PLACENTA
    7. Bassi, MT; Gasol, E; Manzoni, M; Pineda, M; Riboni, M; Martin, R; Zorzano, A; Borsani, G; Palacin, M
      Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system x(c)(-)

      PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
    8. Kauffman, RP; Overton, TH; Shiflett, M; Jennings, JC
      Osteoporosis in children and adolescent girls: Case report of idiopathic juvenile osteoporosis and review of the literature

      OBSTETRICAL & GYNECOLOGICAL SURVEY
    9. Bode, BP
      Recent molecular advances in mammalian glutamine transport

      JOURNAL OF NUTRITION
    10. Vargas, M; Deves, R
      System y(+)L-like activities account for high and low amino-acid transportphenotypes in chicken erythrocytes

      JOURNAL OF MEMBRANE BIOLOGY
    11. Campbell, WA; Thompson, NL
      Overexpression of LAT1/CD98 light chain is sufficient to increase system L-amino acid transport activity in mouse hepatocytes but not fibroblasts

      JOURNAL OF BIOLOGICAL CHEMISTRY
    12. Ribeiro, ACM; Brunini, TMC; Ellory, JC; Mann, GE
      Abnormalities in L-arginine transport and nitric oxide biosynthesis in chronic renal and heart failure

      CARDIOVASCULAR RESEARCH
    13. Palacin, M; Bertran, J; Zorzano, A
      Heteromeric amino acid transporters explain inherited aminoacidurias

      CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
    14. Noguchi, A; Shoji, Y; Koizumi, A; Takahashi, T; Shoji, Y; Matsumori, M; Kayo, T; Ohata, T; Wada, Y; Yoshimura, I; Maisawa, S; Konishi, M; Takasago, Y; Takada, G
      SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families

      HUMAN MUTATION
    15. Goodyer, P; Boutros, M; Rozen, R
      The molecular basis of cystinuria: An update

      EXPERIMENTAL NEPHROLOGY
    16. Palacin, M
      The family of heteromultimeric amino acid transporters reveals aminoaciduria genes

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    17. Dall'Asta, V; Bussolati, O; Sala, R; Rotoli, BM; Sebastio, G; Sperandeo, MP; Andria, G; Gazzola, GC
      Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects

      AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
    18. Zorzano, A; Fandos, C; Palacin, M
      Role of plasma membrane transporters in muscle metabolism

      BIOCHEMICAL JOURNAL
    19. Verrey, F; Meier, C; Rossier, G; Kuhn, LC
      Glycoprotein-associated amino acid exchangers: broadening the range of transport specificity

      PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
    20. Boyd, CAR; Deves, R; Laynes, R; Kudo, Y; Sebastio, G
      Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance

      PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
    21. Desjeux, JF
      The molecular and genetic base of congenital transport defects

      GUT
    22. Pfeiffer, R; Rossier, G; Spindler, B; Meier, C; Kuhn, L; Verrey, F
      Amino acid transport of y(+)L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family

      EMBO JOURNAL
    23. Sperandeo, MP; Buoninconti, A; Passariello, A; Scala, I; Adami, A; Lauteala, T; Mykkanen, J; Andria, G; Sebastio, G
      Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report

      PRENATAL DIAGNOSIS
    24. Verrey, F; Jack, DL; Paulsen, IT; Saier, MH; Pfeiffer, R
      New glycoprotein-associated amino acid transporters

      JOURNAL OF MEMBRANE BIOLOGY
    25. Lukkarinen, M; Parto, K; Ruuskanen, O; Vainio, O; Kayhty, H; Olander, RM; Simell, O
      B and T cell immunity in patients with lysinuric protein intolerance

      CLINICAL AND EXPERIMENTAL IMMUNOLOGY
    26. Lauteala, T; Mykkanen, J; Sperandeo, MP; Gasparini, P; Savontaus, ML; Simell, O; Andria, G; Sebastio, G; Aula, P
      Genetic homogeneity of lysinuric protein intolerance

      EUROPEAN JOURNAL OF HUMAN GENETICS
    27. KAMODA T; NAGAI Y; SHIGETA M; KOBAYASHI C; SEKIJIMA T; SHIBASAKI M; NAKAMURA N
      LYSINURIC PROTEIN INTOLERANCE AND SYSTEMIC LUPUS-ERYTHEMATOSUS

      European journal of pediatrics
    28. JELLUM E; DOLLEKAMP H; BRUNSVIG A; GISLEFOSS R
      DIAGNOSTIC APPLICATIONS OF CHROMATOGRAPHY AND CAPILLARY ELECTROPHORESIS

      Journal of chromatography B. Biomedical sciences and applications
    29. BADIZADEGAN K; PEREZATAYDE AR
      FOCAL GLYCOGENOSIS OF THE LIVER IN DISORDERS OF UREAGENESIS - ITS OCCURRENCE AND DIAGNOSTIC-SIGNIFICANCE

      Hepatology
    30. GURSEL T; KOCAK U; TUMER L; HASANOGLU A
      BONE-MARROW HEMOPHAGOCYTOSIS AND IMMUNOLOGICAL ABNORMALITIES IN A PATIENT WITH LYSINURIC PROTEIN INTOLERANCE

      Acta haematologica
    31. DOIREAU V; FENNETEAU O; DUVAL M; PERELMAN S; VILMER E; TOUATI G; SCHLEGEL N; DEBAULNY HO
      LYSINURIC PROTEIN INTOLERANCE WITH CHARAC TERISTIC BONE-MARROW ABNORMALITIES

      Archives de pediatrie
    32. SCHIMANSKI U; KRIEGER D; HORN M; STREMMEL W; WERMUTH B; THEILMANN L
      A NOVEL 2-NUCLEOTIDE DELETION IN THE ORNITHINE TRANSCARBAMYLASE GENE CAUSING FATAL HYPERAMMONIA IN EARLY-PREGNANCY

      Hepatology
    33. MCMANUS DT; MOORE R; HILL CM; RODGERS C; CARSON DJ; LOVE AHG
      NECROPSY FINDINGS IN LYSINURIC PROTEIN INTOLERANCE

      Journal of Clinical Pathology
    34. TAKAYAMA N; HAMADA H; KUBO T
      LYSINURIC PROTEIN INTOLERANCE IN PREGNANCY - CASE-REPORT WITH SUCCESSFUL OUTCOME

      Archives of gynecology and obstetrics
    35. PRIDMORE CL; CLARKE JTR; BLASER S
      ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN FEMALES - AN OFTEN OVERLOOKED CAUSE OF TREATABLE ENCEPHALOPATHY

      Journal of child neurology
    36. YOSHIDA Y; MACHIGASHIRA K; SUEHARA M; ARIMURA H; MORITOYO T; NAGAMATSU K; OSAME M
      IMMUNOLOGICAL ABNORMALITY IN PATIENTS WITH LYSINURIC PROTEIN INTOLERANCE

      Journal of the neurological sciences
    37. TREEM WR
      INHERITED AND ACQUIRED SYNDROMES OF HYPERAMMONEMIA AND ENCEPHALOPATHYIN CHILDREN

      Seminars in liver disease
    38. PARTO K; KALLAJOKI M; AHO H; SIMELL O
      PULMONARY ALVEOLAR PROTEINOSIS AND GLOMERULONEPHRITIS IN LYSINURIC PROTEIN INTOLERANCE - CASE-REPORTS AND AUTOPSY FINDINGS OF 4 PEDIATRIC-PATIENTS

      Human pathology
    39. DIROCCO M; GARIBOTTO G; ROSSI GA; CARUSO U; TACCONE A; PICCO P; BORRONE C
      ROLE OF HEMATOLOGICAL, PULMONARY AND RENAL COMPLICATIONS IN THE LONG-TERM PROGNOSIS OF PATIENTS WITH LYSINURIC PROTEIN INTOLERANCE

      European journal of pediatrics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/01/21 alle ore 22:25:55