Rezultati pretrage - Pietro Strisciuglio

  • Prikaz rezultata 1 – 7 od 7
Detaljiziraj rezultate
  1. 1
    New Strategies for the Treatment of Phenylketonuria (PKU)

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

    Izdano 2014
    Preuzmi cijeli tekst Preuzmi cijeli tekst
    Revisão
    Spremi u popis
    Spremljeno u:
  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... od Gul N. Shah, Giuseppe Bonapace, Peiyi Hu, Pietro Strisciuglio, William S. Sly

    Izdano 2004
    Preuzmi cijeli tekst Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:
  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. od Giovanni Di Minno, Giovanni Davı̀, Maurizio Margaglione, Federica Cirillo, Elvira Grandone, Giovanni Ciabattoni, Isabella Catalano, Pietro Strisciuglio, Generoso Andria, Carlo Patrono

    Izdano 1993
    Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:
  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 od Giulia Polo, Alessandro P. Burlina, Thilini B. Kolamunnage, Michele Zampieri, Carlo Dionisi‐Vici, Pietro Strisciuglio, Martina Zaninotto, Mario Plebani, Alberto Burlina

    Izdano 2017
    Preuzmi cijeli tekst Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:
  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 od 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

    Izdano 2021
    Preuzmi cijeli tekst Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:
  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 od 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

    Izdano 2010
    Preuzmi cijeli tekst Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:
  7. 7
    Primrose syndrome: Characterization of the phenotype in 42 patients

    Primrose syndrome: Characterization of the phenotype in 42 patients od 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

    Izdano 2020
    Preuzmi cijeli tekst Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:

Alati za pretragu: