検索結果 - Pietro Strisciuglio

  • 検索結果 1 - 7 結果 / 7
結果の絞り込み
  1. 1
    New Strategies for the Treatment of Phenylketonuria (PKU)

    New Strategies for the Treatment of Phenylketonuria (PKU) 著者: Pietro Strisciuglio, Daniela Concolino

    出版事項 2014
    全文の入手 全文の入手
    Revisão
    お気に入りに追加
    保存先:
  2. 2
    Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation

    Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opp... 著者: Gul N. Shah, Giuseppe Bonapace, Peiyi Hu, Pietro Strisciuglio, William S. Sly

    出版事項 2004
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  3. 3
    Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.

    Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism. 著者: Giovanni Di Minno, Giovanni Davı̀, Maurizio Margaglione, Federica Cirillo, Elvira Grandone, Giovanni Ciabattoni, Isabella Catalano, Pietro Strisciuglio, Generoso Andria, Carlo Patrono

    出版事項 1993
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  4. 4
    Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS

    Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS 著者: Giulia Polo, Alessandro P. Burlina, Thilini B. Kolamunnage, Michele Zampieri, Carlo Dionisi‐Vici, Pietro Strisciuglio, Martina Zaninotto, Mario Plebani, Alberto Burlina

    出版事項 2017
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  5. 5
    Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report

    Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report 著者: Alessandro Rossi, Erasmo Miele, Simona Fecarotta, Maria Veiga‐da‐Cunha, Massimo Martinelli, Carmine Mollica, Maria D’Armiento, Enza Mozzillo, Pietro Strisciuglio, Terry G. J. Derks, Annamaria Staiano, Giancarlo Parenti

    出版事項 2021
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  6. 6
    Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency

    Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency 著者: Vincenzo Leuzzi, Ca Carducci, Carla Carducci, Simone Pozzessere, Alberto Burlina, R. Cerone, Daniela Concolino, Donati Ma, Laura M. Fiori, Concetta Meli, A Ponzone, Francesco Porta, Pietro Strisciuglio, I. Antonozzi, Nenad Blau

    出版事項 2010
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  7. 7
    Primrose syndrome: Characterization of the phenotype in 42 patients

    Primrose syndrome: Characterization of the phenotype in 42 patients 著者: Daniela Melis, Daniel R. Carvalho, Tina Barbaro‐Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica H. Gerkes, Marrit M. Hitzert, Hanne Hove, Sandra Jansen, Petr Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance T. R. M. Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter D. Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. M. Hennekam

    出版事項 2020
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:

検索ツール: