Search Results - Sansao, Lilian

  • Showing 1 - 7 results of 7
Refine Results
  1. 1
    P235: Cerebellar ataxia with hypogonadism: Clinical clues to diagnosis adult PMM2-CDG patients

    P235: Cerebellar ataxia with hypogonadism: Clinical clues to diagnosis adult PMM2-CDG patients by Lourenco, Charles, Queiroz, Amadeu, Albuquerque, Regina, Sansao, Lilian, Fonseca, Jacqueline

    Get full text
    Article
    Save to List
    Saved in:
  2. 2
    P024: Next generation sequencing in the diagnosis of acute hepatic porphyrias (AHP): Unraveling the molecular basis of AHP in Brazilian patients

    P024: Next generation sequencing in the diagnosis of acute hepatic porphyrias (AHP): Unraveling the molecular basis of AHP in Brazilian patients by Lourenco, Charles, Queiroz, Amadeu, Albuquerque, Regina, Sansao, Lilian, Fonseca, Jacqueline

    Get full text
    Article
    Save to List
    Saved in:
  3. 3
    P025: Sapropterin therapy in DHPR deficiency: Overcoming barriers in the treatment

    P025: Sapropterin therapy in DHPR deficiency: Overcoming barriers in the treatment by Lourenco, Charles, Albuquerque, Regina, Sansao, Lilian, Campi, Renan, Tomaz, Debora, Fonseca, Jacqueline

    Get full text
    Article
    Save to List
    Saved in:
  4. 4
    P015: Connecting the dots (and neurons): Unraveling the genetic basis of neurotransmitters disorders in a large cohort of Brazilian patients

    P015: Connecting the dots (and neurons): Unraveling the genetic basis of neurotransmitters disorders in a large cohort of Brazilian patients by Lourenco, Charles, Queiroz, Amadeu, Sansao, Lilian, Albuquerque, Regina, Fonseca, Jacqueline, Coelho, Erica, da Penha Ananias Morita, Maria, Estephan, Eduardo

    Get full text
    Article
    Save to List
    Saved in:
  5. 5
    What lies beneath: Next generation sequencing unraveling Niemann-Pick disease type C in adults

    What lies beneath: Next generation sequencing unraveling Niemann-Pick disease type C in adults by Lourenco, Charles M., Queiroz, Amadeu, Sansao, Lilian, da Penha Ananias Morita, Maria, Coelho, Erica, Fonseca, Jacqueline

    Get full text
    Article
    Save to List
    Saved in:
  6. 6
    UNRAVELING PHENOTYPES IN A COHORT OF BRAZILIAN PATIENTS WITH CUTANEOUS PORPHYRIAS: INTEGRATING BIOCHEMICAL TESTING AND A TARGETED GENE PANEL TO SOLVE CLINICAL CONUNDRUMS

    UNRAVELING PHENOTYPES IN A COHORT OF BRAZILIAN PATIENTS WITH CUTANEOUS PORPHYRIAS: INTEGRATING BIOCHEMICAL TESTING AND A TARGETED GENE PANEL TO SOLVE CLINICAL CONUNDRUMS by Lourenco, Charles, Albuquerque, Regina, Queiroz, Amadeu, Sansao, Lilian, Fonseca, Jacqueline, Ribeiro, Erlane, Bussman, Ieda

    Get full text
    Article
    Save to List
    Saved in:
  7. 7
    “Cassandra Curse” or a modern “Sisyphus Burden”? Recurrent attacks in a cohort of Brazilian patients with acute hepatic porphyrias

    “Cassandra Curse” or a modern “Sisyphus Burden”? Recurrent attacks in a cohort of Brazilian patients with acute hepatic porphyrias by Lourenco, Charles, Albuquerque, Regina, Fonseca, Jacqueline, Coelho, Erica, Queiroz, Amadeu, Morita, Maria Da Penha Ananias, Estephan, Eduardo, Sansao, Lilian, Fagundes, Thamy, Aguiar, Daniela

    Get full text
    Article
    Save to List
    Saved in:

Search Tools: