खोज परिणाम - Alberto Burlina

परिणाम को परिष्कृत करें
  1. 1
    Up to date knowledge on different treatment strategies for phenylketonuria

    Up to date knowledge on different treatment strategies for phenylketonuria द्वारा Amaya Bélanger‐Quintana, Alberto Burlina, Cary O. Harding, Ania C. Muntau

    प्रकाशित 2011
    पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:
  2. 2
    Newborn screening in mucopolysaccharidoses

    Newborn screening in mucopolysaccharidoses द्वारा Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:
  3. 3
    Mitochondrial Short-Chain L-3-Hydroxyacl-Coenzyme A Dehydrogenase Deficiency: A New Defect of Fatty Acid Oxidation

    Mitochondrial Short-Chain L-3-Hydroxyacl-Coenzyme A Dehydrogenase Deficiency: A New Defect of Fatty Acid Oxidation द्वारा Malcolm J. Bennett, Michael Weinberger, Joyce A. Kobori, Piero Rinaldo, Alberto Burlina

    प्रकाशित 1996
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  4. 4
    Effective AAV‐mediated gene therapy in a mouse model of ethylmalonic encephalopathy

    Effective AAV‐mediated gene therapy in a mouse model of ethylmalonic encephalopathy द्वारा Ivano Di Meo, Alberto Auricchio, Costanza Lamperti, Alberto Burlina, Carlo Viscomi, Massimo Zeviani

    प्रकाशित 2012
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  5. 5
    Mutations in <i>TIMM50</i> compromise cell survival in OxPhos‐dependent metabolic conditions

    Mutations in <i>TIMM50</i> compromise cell survival in OxPhos‐dependent metabolic conditions द्वारा Aurelio Reyes, Laura Melchionda, Alberto Burlina, Alan J. Robinson, Daniele Ghezzi, Massimo Zeviani

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  6. 6
    Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires

    Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria... द्वारा Antoine Regnault, Alberto Burlina, Amy Cunningham, Esther Bettiol, Flavie Moreau-Stucker, K Benmedjahed, Annet M. Bosch

    प्रकाशित 2015
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  7. 7
    Phenylketonuria

    Phenylketonuria द्वारा Francjan J. van Spronsen, Nenad Blau, Cary O. Harding, Alberto Burlina, Nicola Longo, Annet M. Bosch

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:
  8. 8
    The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review

    The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review द्वारा Alessandro P. Burlina, Robin Lachmann, Renzo Manara, Chiara Cazzorla, Andrea Celato, Francjan J. van Spronsen, Alberto Burlina

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:
  9. 9
    Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy

    Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy द्वारा Alberto Burlina, Giulia Polo, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Giovanni Duro, Leonardo Salviati, Alessandro P. Burlina

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  10. 10
    Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

    Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries द्वारा Annet M. Bosch, Alberto Burlina, Amy Cunningham, Esther Bettiol, Flavie Moreau-Stucker, Ekaterina Koledova, K Benmedjahed, Antoine Regnault

    प्रकाशित 2015
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  11. 11
    Arginase 1 deficiency: a treatable form of spastic paraplegia

    Arginase 1 deficiency: a treatable form of spastic paraplegia द्वारा Alessandro P. Burlina, Anna Ardissone, Roberta Battini, Alberto Burlina, Serena Gasperini, Andrea Pession, Francesco Porta, Carlo Dionisi‐Vici

    प्रकाशित 2025
    पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:
  12. 12
    Newborn Screening for Fabry Disease: Current Status of Knowledge

    Newborn Screening for Fabry Disease: Current Status of Knowledge द्वारा Vincenza Gragnaniello, Alessandro P. Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Elena Porcù, Maria Stornaiuolo, Chiara Cazzorla, Alberto Burlina

    प्रकाशित 2023
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:
  13. 13
    Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

    Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency द्वारा Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner, François Feillet, Céline Chéry, Alberto Burlina, Raymond C. Stevens, Beat Thöny, Nenad Blau

    प्रकाशित 2007
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  14. 14
    Characterization of Mouse and Human GTP Cyclohydrolase I Genes

    Characterization of Mouse and Human GTP Cyclohydrolase I Genes द्वारा Hiroshi Ichinose, Tamae Ohye, Yoichi Matsuda, Tada-aki Hori, Nenad Blau, Alberto Burlina, Bobbye Rouse, Reuben Matalon, Keisuke Fujita, Toshiharu Nagatsu

    प्रकाशित 1995
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  15. 15
    Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria

    Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria द्वारा Chiara Cazzorla, Luca Cegolon, Alessandro P. Burlina, Andrea Celato, Pamela Massa, Laura Giordano, Giulia Polo, Aurora Daniele, Francesco Salvatore, Alberto Burlina

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  16. 16
    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 द्वारा Giulia Polo, Alessandro P. Burlina, Thilini B. Kolamunnage, Michele Zampieri, Carlo Dionisi‐Vici, Pietro Strisciuglio, Martina Zaninotto, Mario Plebani, Alberto Burlina

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  17. 17
    Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study

    Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study द्वारा Giulia Polo, Alessandro P. Burlina, Enzo Ranieri, Francesca Colucci, Laura Rubert, Antonia Pascarella, Giovanni Duro, Albina Tummolo, Andrea Padoan, Mario Plebani, Alberto Burlina

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  18. 18
    Living with phenylketonuria in adulthood: The PKU ATTITUDE study

    Living with phenylketonuria in adulthood: The PKU ATTITUDE study द्वारा Chiara Cazzorla, Giulia Bensi, Giacomo Biasucci, Vincenzo Leuzzi, Filippo Manti, Antonella Musumeci, Francesco Papadia, Vera Stoppioni, Albina Tummolo, Marcella Vendemiale, Giulia Polo, Alberto Burlina

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  19. 19
    Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

    Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience द्वारा Vincenza Gragnaniello, Alessandro P. Burlina, Giulia Polo, Antonella Giuliani, Leonardo Salviati, Giovanni Duro, Chiara Cazzorla, Laura Rubert, Evelina Maines, Dominique P. Germain, Alberto Burlina

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  20. 20
    Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden

    Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden द्वारा Chiara Cazzorla, Vincenza Gragnaniello, Giacomo Gaiga, Daniela Gueraldi, Andrea Puma, Christian Loro, G L Benetti, Rossana Schiavo, Elena Porcù, Alessandro P. Burlina, Alberto Burlina

    प्रकाशित 2025
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:

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